{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA020781", "communityStandardTitle": [ "NM_000059.4(BRCA2):c.475G>A (p.Val159Met)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=66379[alleleid]", "alleleId": 66379, "preferredName": "NM_000059.4(BRCA2):c.475G>A (p.Val159Met)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/51711", "RCV": [ "RCV000113649", "RCV000218417", "RCV000236273", "RCV001379120", "RCV001391212", "RCV003473347" ], "variationId": 51711 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.32900287G>A?assembly=hg19", "id": "chr13:g.32900287G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.32326150G>A?assembly=hg38", "id": "chr13:g.32326150G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/80358702", "rs": 80358702 } ] }, "genomicAlleles": [ { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 32326150, "referenceAllele": "G", "start": 32326149 } ], "hgvs": [ "NC_000013.11:g.32326150G>A", "CM000675.2:g.32326150G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000061" }, { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 32900287, "referenceAllele": "G", "start": 32900286 } ], "hgvs": [ "NC_000013.10:g.32900287G>A", "CM000675.1:g.32900287G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000037" }, { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 31798287, "referenceAllele": "G", "start": 31798286 } ], "hgvs": [ "NC_000013.9:g.31798287G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000013" }, { "coordinates": [ { "allele": "A", "end": 15671, "referenceAllele": "G", "start": 15670 } ], "hgvs": [ "NG_012772.3:g.15671G>A", "LRG_293:g.15671G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002532" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 674, "referenceAllele": "G", "start": 673 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000470094.2:c.475G>A" ], "proteinEffect": { "hgvs": "ENSP00000434898.2:p.Val159Met", "hgvsWellDefined": "ENSP00000434898.2:p.Val159Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS914116" }, { "coordinates": [ { "allele": "A", "end": 674, "referenceAllele": "G", "start": 673 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000528762.2:c.475G>A" ], "proteinEffect": { "hgvs": "ENSP00000433168.2:p.Val159Met", "hgvsWellDefined": "ENSP00000433168.2:p.Val159Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS914230" }, { "coordinates": [ { "allele": "A", "end": 673, "referenceAllele": "G", "start": 672 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000530893.7:c.106G>A" ], "proteinEffect": { "hgvs": "ENSP00000499438.2:p.Val36Met", "hgvsWellDefined": "ENSP00000499438.2:p.Val36Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS914239" }, { "coordinates": [ { "allele": "A", "end": 674, "referenceAllele": "G", "start": 673 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000665585.2:c.475G>A" ], "proteinEffect": { "hgvs": "ENSP00000499570.2:p.Val159Met", "hgvsWellDefined": "ENSP00000499570.2:p.Val159Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS914440" }, { "coordinates": [ { "allele": "A", "end": 674, "referenceAllele": "G", "start": 673 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000666593.2:c.475G>A" ], "proteinEffect": { "hgvs": "ENSP00000499256.2:p.Val159Met", "hgvsWellDefined": "ENSP00000499256.2:p.Val159Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS914441" }, { "coordinates": [ { "allele": "A", "end": 674, "referenceAllele": "G", "start": 673 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000700202.2:c.475G>A" ], "proteinEffect": { "hgvs": "ENSP00000514856.2:p.Val159Met", "hgvsWellDefined": "ENSP00000514856.2:p.Val159Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS914479" }, { "coordinates": [ { "allele": "A", "end": 346, "referenceAllele": "G", "start": 345 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000700200.1:n.346G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS911045" }, { "coordinates": [ { "allele": "A", "end": 766, "referenceAllele": "G", "start": 765 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000700201.1:c.*254G>A" ], "proteinEffect": { "hgvs": "ENSP00000514855.1:n.*254G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS911046" }, { "coordinates": [ { "allele": "A", "end": 674, "referenceAllele": "G", "start": 673 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000380152.8:c.475G>A" ], "proteinEffect": { "hgvs": "ENSP00000369497.3:p.Val159Met", "hgvsWellDefined": "ENSP00000369497.3:p.Val159Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS752343", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000380152.8:c.475G>A" }, "RefSeq": { "hgvs": "NM_000059.4:c.475G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000369497.3:p.Val159Met" }, "RefSeq": { "hgvs": "NP_000050.3:p.Val159Met" } } } }, { "coordinates": [ { "allele": "A", "end": 574, "referenceAllele": "G", "start": 573 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000544455.6:c.475G>A" ], "proteinEffect": { "hgvs": "ENSP00000439902.1:p.Val159Met", "hgvsWellDefined": "ENSP00000439902.1:p.Val159Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS759772" }, { "coordinates": [ { "allele": "A", "end": 475, "referenceAllele": "G", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000614259.2:c.475G>A" ], "proteinEffect": { "hgvs": "ENSP00000506251.1:p.Val159Met", "hgvsWellDefined": "ENSP00000506251.1:p.Val159Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS761959" }, { "coordinates": [ { "allele": "A", "end": 600, "referenceAllele": "G", "start": 599 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000680887.1:c.475G>A" ], "proteinEffect": { "hgvs": "ENSP00000505508.1:p.Val159Met", "hgvsWellDefined": "ENSP00000505508.1:p.Val159Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS780501" }, { "coordinates": [ { "allele": "A", "end": 708, "referenceAllele": "G", "start": 707 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000380152.7:c.475G>A" ], "proteinEffect": { "hgvs": "ENSP00000369497.3:p.Val159Met", "hgvsWellDefined": "ENSP00000369497.3:p.Val159Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS247169" }, { "coordinates": [ { "allele": "A", "end": 673, "referenceAllele": "G", "start": 672 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000530893.6:n.673G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS356076" }, { "coordinates": [ { "allele": "A", "end": 702, "referenceAllele": "G", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000544455.5:c.475G>A" ], "proteinEffect": { "hgvs": "ENSP00000439902.1:p.Val159Met", "hgvsWellDefined": "ENSP00000439902.1:p.Val159Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS247233" }, { "coordinates": [ { "allele": "A", "end": 475, "referenceAllele": "G", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000614259.1:n.475G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS402107" }, { "@id": "http://reg.genome.network/allele/PA269093", "coordinates": [ { "allele": "A", "end": 702, "referenceAllele": "G", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "NM_000059.3:c.475G>A", "LRG_293t1:c.475G>A" ], "proteinEffect": { "hgvs": "NP_000050.2:p.Val159Met", "hgvsWellDefined": "NP_000050.2:p.Val159Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS006123" }, { "coordinates": [ { "allele": "A", "end": 798, "referenceAllele": "G", "start": 797 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "XM_011535203.1:c.475G>A" ], "proteinEffect": { "hgvs": "XP_011533505.1:p.Val159Met", "hgvsWellDefined": "XP_011533505.1:p.Val159Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS102211" }, { "coordinates": [ { "allele": "A", "end": 708, "referenceAllele": "G", "start": 707 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "XM_011535204.1:c.475G>A" ], "proteinEffect": { "hgvs": "XP_011533506.1:p.Val159Met", "hgvsWellDefined": "XP_011533506.1:p.Val159Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS102212" }, { "coordinates": [ { "allele": "A", "end": 708, "referenceAllele": "G", "start": 707 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "XM_011535205.1:c.475G>A" ], "proteinEffect": { "hgvs": "XP_011533507.1:p.Val159Met", "hgvsWellDefined": "XP_011533507.1:p.Val159Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS102213" }, { "@id": "http://reg.genome.network/allele/PA2573060133", "coordinates": [ { "allele": "A", "end": 674, "referenceAllele": "G", "start": 673 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "NM_000059.4:c.475G>A" ], "proteinEffect": { "hgvs": "NP_000050.3:p.Val159Met", "hgvsWellDefined": "NP_000050.3:p.Val159Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS710794", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000380152.8:c.475G>A" }, "RefSeq": { "hgvs": "NM_000059.4:c.475G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000369497.3:p.Val159Met" }, "RefSeq": { "hgvs": "NP_000050.3:p.Val159Met" } } } } ], "type": "nucleotide" }