{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA346730730", "communityStandardTitle": [ "NM_000251.3(MSH2):c.514A>T (p.Lys172Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2049915[alleleid]", "alleleId": 2049915, "preferredName": "NM_000251.3(MSH2):c.514A>T (p.Lys172Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1995415", "RCV": [ "RCV002796574", "RCV003455577" ], "variationId": 1995415 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.47637380A>T?assembly=hg19", "id": "chr2:g.47637380A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.47410241A>T?assembly=hg38", "id": "chr2:g.47410241A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2465708237", "rs": 2465708237 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 47410241, "referenceAllele": "A", "start": 47410240 } ], "hgvs": [ "NC_000002.12:g.47410241A>T", "CM000664.2:g.47410241A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 47637380, "referenceAllele": "A", "start": 47637379 } ], "hgvs": [ "NC_000002.11:g.47637380A>T", "CM000664.1:g.47637380A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 47490884, "referenceAllele": "A", "start": 47490883 } ], "hgvs": [ "NC_000002.10:g.47490884A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 12118, "referenceAllele": "A", "start": 12117 } ], "hgvs": [ "NG_007110.2:g.12118A>T", "LRG_218:g.12118A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000486" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 550, "referenceAllele": "A", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000644900.2:c.514A>T" ], "proteinEffect": { "hgvs": "ENSP00000495641.2:p.Lys172Ter", "hgvsWellDefined": "ENSP00000495641.2:p.Lys172_Met883delinsLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluValValThrIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914416" }, { "coordinates": [ { "allele": "T", "end": 550, "referenceAllele": "A", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000233146.7:c.514A>T" ], "proteinEffect": { "hgvs": "ENSP00000233146.2:p.Lys172Ter", "hgvsWellDefined": "ENSP00000233146.2:p.Lys172_Thr934delinsLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluGlnGlyGluLysIleIleGlnGluPheLeuSerLysValLysGlnMetProPheThrGluMetSerGluGluAsnIleThrIleLysLeuLysGlnLeuLysAlaGluValIleAlaLysAsnAsnSerPheValAsnGluIleIleSerArgIleLysValThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740907", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000233146.7:c.514A>T" }, "RefSeq": { "hgvs": "NM_000251.3:c.514A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000233146.2:p.Lys172Ter" }, "RefSeq": { "hgvs": "NP_000242.1:p.Lys172Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 455, "referenceAllele": "A", "start": 454 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000543555.6:c.316A>T" ], "proteinEffect": { "hgvs": "ENSP00000442697.1:p.Lys106Ter", "hgvsWellDefined": "ENSP00000442697.1:p.Lys106_Thr868delinsLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluGlnGlyGluLysIleIleGlnGluPheLeuSerLysValLysGlnMetProPheThrGluMetSerGluGluAsnIleThrIleLysLeuLysGlnLeuLysAlaGluValIleAlaLysAsnAsnSerPheValAsnGluIleIleSerArgIleLysValThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759735" }, { "coordinates": [ { "allele": "T", "end": 587, "referenceAllele": "A", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000644092.1:c.514A>T" ], "proteinEffect": { "hgvs": "ENSP00000496351.1:p.Lys172Ter", "hgvsWellDefined": "ENSP00000496351.1:p.Lys172_Lys558delinsLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnArgValTyrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767627" }, { "coordinates": [ { "allele": "T", "end": 587, "referenceAllele": "A", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000645339.1:c.514A>T" ], "proteinEffect": { "hgvs": "ENSP00000496441.1:p.Lys172Ter", "hgvsWellDefined": "ENSP00000496441.1:p.Lys172_Gly918delinsLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768299" }, { "coordinates": [ { "allele": "T", "end": 587, "referenceAllele": "A", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000645506.1:c.514A>T" ], "proteinEffect": { "hgvs": "ENSP00000495455.1:p.Lys172Ter", "hgvsWellDefined": "ENSP00000495455.1:p.Lys172_Ala924delinsLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerAlaThrProSerAlaSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768389" }, { "coordinates": [ { "allele": "T", "end": 587, "referenceAllele": "A", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000646415.1:c.514A>T" ], "proteinEffect": { "hgvs": "ENSP00000495543.1:p.Lys172Ter", "hgvsWellDefined": "ENSP00000495543.1:p.Lys172_His938delinsLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerAspProThrProThrArgAsnThrGlnProLeuThrGlnSerTrpAlaCysValGlySerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768860" }, { "coordinates": [ { "allele": "T", "end": 737, "referenceAllele": "A", "start": 736 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000233146.6:c.514A>T" ], "proteinEffect": { "hgvs": "ENSP00000233146.2:p.Lys172Ter", "hgvsWellDefined": "ENSP00000233146.2:p.Lys172_Thr934delinsLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluGlnGlyGluLysIleIleGlnGluPheLeuSerLysValLysGlnMetProPheThrGluMetSerGluGluAsnIleThrIleLysLeuLysGlnLeuLysAlaGluValIleAlaLysAsnAsnSerPheValAsnGluIleIleSerArgIleLysValThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247203" }, { "coordinates": [ { "allele": "T", "end": 576, "referenceAllele": "A", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000406134.5:c.514A>T" ], "proteinEffect": { "hgvs": "ENSP00000384199.1:p.Lys172Ter", "hgvsWellDefined": "ENSP00000384199.1:p.Lys172_Ser921delinsLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerGlyGluLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247307" }, { "coordinates": [ { "allele": "T", "end": 455, "referenceAllele": "A", "start": 454 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000454849.5:c.316A>T" ], "proteinEffect": { "hgvs": "ENSP00000411482.1:p.Lys106Ter", "hgvsWellDefined": "ENSP00000411482.1:p.Lys106Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247404" }, { "coordinates": [ { "allele": "T", "end": 455, "referenceAllele": "A", "start": 454 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000543555.5:c.316A>T" ], "proteinEffect": { "hgvs": "ENSP00000442697.1:p.Lys106Ter", "hgvsWellDefined": "ENSP00000442697.1:p.Lys106_Thr868delinsLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluGlnGlyGluLysIleIleGlnGluPheLeuSerLysValLysGlnMetProPheThrGluMetSerGluGluAsnIleThrIleLysLeuLysGlnLeuLysAlaGluValIleAlaLysAsnAsnSerPheValAsnGluIleIleSerArgIleLysValThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247173" }, { "coordinates": [ { "allele": "T", "end": 554, "referenceAllele": "A", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000610696.4:c.514A>T" ], "proteinEffect": { "hgvs": "ENSP00000483159.1:p.Lys172Ter", "hgvsWellDefined": "ENSP00000483159.1:p.Lys172_Ser533delinsLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluLysSerProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400534" }, { "coordinates": [ { "allele": "T", "end": 554, "referenceAllele": "A", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000613514.4:c.514A>T" ], "proteinEffect": { "hgvs": "ENSP00000484137.1:p.Lys172Ter", "hgvsWellDefined": "ENSP00000484137.1:p.Lys172_Glu485delinsLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgAsnAsnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401778" }, { "coordinates": [ { "allele": "T", "end": 554, "referenceAllele": "A", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000617333.3:c.514A>T" ], "proteinEffect": { "hgvs": "ENSP00000482468.1:p.Lys172Ter", "hgvsWellDefined": "ENSP00000482468.1:p.Lys172_Val410delinsLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspTyrPheValAspSerGlnIleLeuThrAspLeuProArgSerPheLysAspLysGlnGlnThrTyrLysIleValThrAspSerIleArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403437" }, { "coordinates": [ { "allele": "T", "end": 554, "referenceAllele": "A", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000617938.4:c.514A>T" ], "proteinEffect": { "hgvs": "ENSP00000481158.1:p.Lys172Ter", "hgvsWellDefined": "ENSP00000481158.1:p.Lys172_Cys341delinsLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403700" }, { "coordinates": [ { "allele": "T", "end": 554, "referenceAllele": "A", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000621359.2:c.514A>T" ], "proteinEffect": { "hgvs": "ENSP00000481416.1:p.Lys172Ter", "hgvsWellDefined": "ENSP00000481416.1:p.Lys172_Pro810delinsLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrIlePheMetAsnLeuLeuProTrpProIleArgTyrGlnLeuLeuIleIleTyrMetSerGlnHisSerProLeuLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405232" }, { "@id": "http://reg.genome.network/allele/PA2825081406", "coordinates": [ { "allele": "T", "end": 639, "referenceAllele": "A", "start": 638 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "NM_000251.2:c.514A>T", "LRG_218t1:c.514A>T" ], "proteinEffect": { "hgvs": "NP_000242.1:p.Lys172Ter", "hgvsWellDefined": "NP_000242.1:p.Lys172_Thr934delinsLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluGlnGlyGluLysIleIleGlnGluPheLeuSerLysValLysGlnMetProPheThrGluMetSerGluGluAsnIleThrIleLysLeuLysGlnLeuLysAlaGluValIleAlaLysAsnAsnSerPheValAsnGluIleIleSerArgIleLysValThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006313" }, { "@id": "http://reg.genome.network/allele/PA2826462937", "coordinates": [ { "allele": "T", "end": 455, "referenceAllele": "A", "start": 454 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "NM_001258281.1:c.316A>T" ], "proteinEffect": { "hgvs": "NP_001245210.1:p.Lys106Ter", "hgvsWellDefined": "NP_001245210.1:p.Lys106_Thr868delinsLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluGlnGlyGluLysIleIleGlnGluPheLeuSerLysValLysGlnMetProPheThrGluMetSerGluGluAsnIleThrIleLysLeuLysGlnLeuLysAlaGluValIleAlaLysAsnAsnSerPheValAsnGluIleIleSerArgIleLysValThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019766" }, { "coordinates": [ { "allele": "T", "end": 586, "referenceAllele": "A", "start": 585 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XM_005264332.2:c.514A>T" ], "proteinEffect": { "hgvs": "XP_005264389.2:p.Lys172Ter", "hgvsWellDefined": "XP_005264389.2:p.Lys172_Gly974delinsLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerGlyGlyAspPheLysArgLysSerLeuValValCysLysAlaThrAsnProAlaLeuLysTrpIleValProSerProLeuAsnGluPheSerPheIleHisLeuGluLysHisSerLeuValLeuSerMetGluLeuGlnAlaThrSerGlyGlyAlaGlnCysProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064175" }, { "coordinates": [ { "allele": "T", "end": 586, "referenceAllele": "A", "start": 585 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XM_011532867.1:c.514A>T" ], "proteinEffect": { "hgvs": "XP_011531169.1:p.Lys172Ter", "hgvsWellDefined": "XP_011531169.1:p.Lys172_Ala924delinsLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerAlaThrProSerAlaSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099893" }, { "coordinates": [ { "allele": "T", "end": 586, "referenceAllele": "A", "start": 585 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XR_939685.1:n.586A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS134381" }, { "coordinates": [ { "allele": "T", "end": 576, "referenceAllele": "A", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XM_005264332.4:c.514A>T" ], "proteinEffect": { "hgvs": "XP_005264389.2:p.Lys172Ter", "hgvsWellDefined": "XP_005264389.2:p.Lys172_Gly974delinsLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerGlyGlyAspPheLysArgLysSerLeuValValCysLysAlaThrAsnProAlaLeuLysTrpIleValProSerProLeuAsnGluPheSerPheIleHisLeuGluLysHisSerLeuValLeuSerMetGluLeuGlnAlaThrSerGlyGlyAlaGlnCysProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535844" }, { "coordinates": [ { "allele": "T", "end": 576, "referenceAllele": "A", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XM_011532867.2:c.514A>T" ], "proteinEffect": { "hgvs": "XP_011531169.1:p.Lys172Ter", "hgvsWellDefined": "XP_011531169.1:p.Lys172_Ala924delinsLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerAlaThrProSerAlaSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551004" }, { "coordinates": [ { "allele": "T", "end": 576, "referenceAllele": "A", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XR_001738747.2:n.576A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589206" }, { "coordinates": [ { "allele": "T", "end": 576, "referenceAllele": "A", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XR_939685.2:n.576A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS612357" }, { "@id": "http://reg.genome.network/allele/PA2825081406", "coordinates": [ { "allele": "T", "end": 550, "referenceAllele": "A", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "NM_000251.3:c.514A>T" ], "proteinEffect": { "hgvs": "NP_000242.1:p.Lys172Ter", "hgvsWellDefined": "NP_000242.1:p.Lys172_Thr934delinsLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluGlnGlyGluLysIleIleGlnGluPheLeuSerLysValLysGlnMetProPheThrGluMetSerGluGluAsnIleThrIleLysLeuLysGlnLeuLysAlaGluValIleAlaLysAsnAsnSerPheValAsnGluIleIleSerArgIleLysValThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674763", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000233146.7:c.514A>T" }, "RefSeq": { "hgvs": "NM_000251.3:c.514A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000233146.2:p.Lys172Ter" }, "RefSeq": { "hgvs": "NP_000242.1:p.Lys172Ter" } } } } ], "type": "nucleotide" }