{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA180944", "communityStandardTitle": [ "NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=232757", "active": true, "id": "COSM232757" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5574290", "active": true, "id": "COSM5574290" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=49283[alleleid]", "alleleId": 49283, "preferredName": "NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40813", "RCV": [ "RCV000158024", "RCV000254662", "RCV000524055", "RCV000844675" ], "variationId": 40813 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.4101103C>T?assembly=hg19", "id": "chr19:g.4101103C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.4101105C>T?assembly=hg38", "id": "chr19:g.4101105C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/727504382", "rs": 727504382 } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 4101105, "referenceAllele": "C", "start": 4101104 } ], "hgvs": [ "NC_000019.10:g.4101105C>T", "CM000681.2:g.4101105C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 4101103, "referenceAllele": "C", "start": 4101102 } ], "hgvs": [ "NC_000019.9:g.4101103C>T", "CM000681.1:g.4101103C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 4052103, "referenceAllele": "C", "start": 4052102 } ], "hgvs": [ "NC_000019.8:g.4052103C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "A", "end": 28024, "referenceAllele": "G", "start": 28023 } ], "hgvs": [ "NG_007996.1:g.28024G>A", "LRG_750:g.28024G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000763" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1058, "referenceAllele": "G", "start": 1057 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "ENST00000394867.9:n.1058G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS824483" }, { "coordinates": [ { "allele": "A", "end": 1058, "referenceAllele": "G", "start": 1057 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "ENST00000687128.1:n.1058G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS830922" }, { "coordinates": [ { "allele": "A", "end": 559, "referenceAllele": "G", "start": 558 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "ENST00000689792.1:n.559G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS832368" }, { "coordinates": [ { "allele": "A", "end": 866, "referenceAllele": "G", "start": 865 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "ENST00000262948.10:c.619G>A" ], "proteinEffect": { "hgvs": "ENSP00000262948.4:p.Glu207Lys", "hgvsWellDefined": "ENSP00000262948.4:p.Glu207Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS742424", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000262948.10:c.619G>A" }, "RefSeq": { "hgvs": "NM_030662.4:c.619G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000262948.4:p.Glu207Lys" }, "RefSeq": { "hgvs": "NP_109587.1:p.Glu207Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 873, "referenceAllele": "G", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "ENST00000262948.9:c.619G>A" ], "proteinEffect": { "hgvs": "ENSP00000262948.3:p.Glu207Lys", "hgvsWellDefined": "ENSP00000262948.3:p.Glu207Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS251144" }, { "coordinates": [ { "allele": "A", "end": 622, "referenceAllele": "G", "start": 621 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "ENST00000394867.8:c.328G>A" ], "proteinEffect": { "hgvs": "ENSP00000378336.1:p.Glu110Lys", "hgvsWellDefined": "ENSP00000378336.1:p.Glu110Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS276391" }, { "coordinates": [ { "allele": "A", "end": 566, "referenceAllele": "G", "start": 565 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "ENST00000593364.5:n.566G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS394174" }, { "coordinates": [ { "allele": "A", "end": 220, "referenceAllele": "G", "start": 219 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "ENST00000597008.5:n.220G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS395768" }, { "coordinates": [ { "allele": "A", "end": 83, "referenceAllele": "G", "start": 82 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "ENST00000597263.5:n.83G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS395890" }, { "coordinates": [ { "allele": "A", "end": 889, "referenceAllele": "G", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "ENST00000599345.1:n.889G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS396794" }, { "coordinates": [ { "allele": "A", "end": 920, "referenceAllele": "G", "start": 919 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "ENST00000601786.5:n.920G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS397890" }, { "coordinates": [ { "allele": "A", "end": 339, "referenceAllele": "G", "start": 338 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "ENST00000602167.5:n.339G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS398068" }, { "@id": "http://reg.genome.network/allele/PA180946", "coordinates": [ { "allele": "A", "end": 873, "referenceAllele": "G", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "NM_030662.3:c.619G>A", "LRG_750t1:c.619G>A" ], "proteinEffect": { "hgvs": "NP_109587.1:p.Glu207Lys", "hgvsWellDefined": "NP_109587.1:p.Glu207Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS038376" }, { "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "G", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "XM_006722799.2:c.619G>A" ], "proteinEffect": { "hgvs": "XP_006722862.1:p.Glu207Lys", "hgvsWellDefined": "XP_006722862.1:p.Glu207Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS074725" }, { "coordinates": [ { "allele": "A", "end": 582, "referenceAllele": "G", "start": 581 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "XM_011528133.1:c.49G>A" ], "proteinEffect": { "hgvs": "XP_011526435.1:p.Glu17Lys", "hgvsWellDefined": "XP_011526435.1:p.Glu17Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS095206" }, { "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "G", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "XM_017026989.1:c.619G>A" ], "proteinEffect": { "hgvs": "XP_016882478.1:p.Glu207Lys", "hgvsWellDefined": "XP_016882478.1:p.Glu207Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS577000" }, { "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "G", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "XM_017026990.1:c.619G>A" ], "proteinEffect": { "hgvs": "XP_016882479.1:p.Glu207Lys", "hgvsWellDefined": "XP_016882479.1:p.Glu207Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS577001" }, { "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "G", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "XM_017026991.1:c.619G>A" ], "proteinEffect": { "hgvs": "XP_016882480.1:p.Glu207Lys", "hgvsWellDefined": "XP_016882480.1:p.Glu207Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS577002" }, { "@id": "http://reg.genome.network/allele/PA180946", "coordinates": [ { "allele": "A", "end": 866, "referenceAllele": "G", "start": 865 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "NM_030662.4:c.619G>A" ], "proteinEffect": { "hgvs": "NP_109587.1:p.Glu207Lys", "hgvsWellDefined": "NP_109587.1:p.Glu207Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS698868", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000262948.10:c.619G>A" }, "RefSeq": { "hgvs": "NM_030662.4:c.619G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000262948.4:p.Glu207Lys" }, "RefSeq": { "hgvs": "NP_109587.1:p.Glu207Lys" } } } } ], "type": "nucleotide" }