{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA025356", "communityStandardTitle": [ "NM_000059.4(BRCA2):c.7963C>T (p.Gln2655Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4390263", "active": true, "id": "COSM4390263" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4390264", "active": true, "id": "COSM4390264" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=46684[alleleid]", "alleleId": 46684, "preferredName": "NM_000059.4(BRCA2):c.7963C>T (p.Gln2655Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/38128", "RCV": [ "RCV000031710", "RCV001178396", "RCV003529926" ], "variationId": 38128 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.32936817C>T?assembly=hg19", "id": "chr13:g.32936817C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.32362680C>T?assembly=hg38", "id": "chr13:g.32362680C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/397507395", "rs": 397507395 } ] }, "genomicAlleles": [ { "chromosome": "13", "coordinates": [ { "allele": "T", "end": 32362680, "referenceAllele": "C", "start": 32362679 } ], "hgvs": [ "NC_000013.11:g.32362680C>T", "CM000675.2:g.32362680C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000061" }, { "chromosome": "13", "coordinates": [ { "allele": "T", "end": 32936817, "referenceAllele": "C", "start": 32936816 } ], "hgvs": [ "NC_000013.10:g.32936817C>T", "CM000675.1:g.32936817C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000037" }, { "chromosome": "13", "coordinates": [ { "allele": "T", "end": 31834817, "referenceAllele": "C", "start": 31834816 } ], "hgvs": [ "NC_000013.9:g.31834817C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000013" }, { "coordinates": [ { "allele": "T", "end": 52201, "referenceAllele": "C", "start": 52200 } ], "hgvs": [ "NG_012772.3:g.52201C>T", "LRG_293:g.52201C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002532" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 8162, "referenceAllele": "C", "start": 8161 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000470094.2:c.7963C>T" ], "proteinEffect": { "hgvs": "ENSP00000434898.2:p.Gln2655Ter", "hgvsWellDefined": "ENSP00000434898.2:p.Gln2655_Pro3200delinsLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluArgGlnSerLeuAlaLeuSerProProGlyTrpSerThrIleAlaGlnSerArgIleThrAlaValSerAlaSerTrpAlaGlnAlaIleLeuValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914116" }, { "coordinates": [ { "allele": "T", "end": 8162, "referenceAllele": "C", "start": 8161 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000528762.2:c.7963C>T" ], "proteinEffect": { "hgvs": "ENSP00000433168.2:p.Gln2655Ter", "hgvsWellDefined": "ENSP00000433168.2:p.Gln2655_Phe2898delinsLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluValThrSerSerThrGluValLeuAsnProProLysSerSerMetArgValGlyIleAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914230" }, { "coordinates": [ { "allele": "T", "end": 8161, "referenceAllele": "C", "start": 8160 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000530893.7:c.7594C>T" ], "proteinEffect": { "hgvs": "ENSP00000499438.2:p.Gln2532Ter", "hgvsWellDefined": "ENSP00000499438.2:p.Gln2532_Ile3295delinsLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914239" }, { "coordinates": [ { "allele": "T", "end": 8162, "referenceAllele": "C", "start": 8161 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000665585.2:c.7963C>T" ], "proteinEffect": { "hgvs": "ENSP00000499570.2:p.Gln2655Ter", "hgvsWellDefined": "ENSP00000499570.2:p.Gln2655_Phe2916delinsLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluValProHisGlyTrpGlyGlyLeuArgLysLeuThrIleIleValGluAspGluGlyGluAlaSerThrPhePheThrArgTrpGlnGluArgGluTyrArgGluAsnSerHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914440" }, { "coordinates": [ { "allele": "T", "end": 8162, "referenceAllele": "C", "start": 8161 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000666593.2:c.7963C>T" ], "proteinEffect": { "hgvs": "ENSP00000499256.2:p.Gln2655Ter", "hgvsWellDefined": "ENSP00000499256.2:p.Gln2655_Ile3097delinsLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrValSerTyrGlnTrpLysIleGluAspMetIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914441" }, { "coordinates": [ { "allele": "T", "end": 8162, "referenceAllele": "C", "start": 8161 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000700202.2:c.7963C>T" ], "proteinEffect": { "hgvs": "ENSP00000514856.2:p.Gln2655Ter", "hgvsWellDefined": "ENSP00000514856.2:p.Gln2655_Ile3401delinsLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914479" }, { "coordinates": [ { "allele": "T", "end": 430, "referenceAllele": "C", "start": 429 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000700202.1:c.430C>T" ], "proteinEffect": { "hgvs": "ENSP00000514856.1:p.Gln144Ter", "hgvsWellDefined": "ENSP00000514856.1:p.Gln144_Ile890delinsLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911047" }, { "coordinates": [ { "allele": "T", "end": 8162, "referenceAllele": "C", "start": 8161 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000380152.8:c.7963C>T" ], "proteinEffect": { "hgvs": "ENSP00000369497.3:p.Gln2655Ter", "hgvsWellDefined": "ENSP00000369497.3:p.Gln2655_Ile3418delinsLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752343", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000380152.8:c.7963C>T" }, "RefSeq": { "hgvs": "NM_000059.4:c.7963C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000369497.3:p.Gln2655Ter" }, "RefSeq": { "hgvs": "NP_000050.3:p.Gln2655Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 8062, "referenceAllele": "C", "start": 8061 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000544455.6:c.7963C>T" ], "proteinEffect": { "hgvs": "ENSP00000439902.1:p.Gln2655Ter", "hgvsWellDefined": "ENSP00000439902.1:p.Gln2655_Ile3418delinsLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759772" }, { "coordinates": [ { "allele": "T", "end": 7971, "referenceAllele": "C", "start": 7970 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000614259.2:c.7971C>T" ], "proteinEffect": { "hgvs": "ENSP00000506251.1:n.7971C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS761959" }, { "coordinates": [ { "allele": "T", "end": 528, "referenceAllele": "C", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000665585.1:c.528C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS772907" }, { "coordinates": [ { "allele": "T", "end": 8088, "referenceAllele": "C", "start": 8087 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000680887.1:c.7963C>T" ], "proteinEffect": { "hgvs": "ENSP00000505508.1:p.Gln2655Ter", "hgvsWellDefined": "ENSP00000505508.1:p.Gln2655_Ile3418delinsLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780501" }, { "coordinates": [ { "allele": "T", "end": 8196, "referenceAllele": "C", "start": 8195 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000380152.7:c.7963C>T" ], "proteinEffect": { "hgvs": "ENSP00000369497.3:p.Gln2655Ter", "hgvsWellDefined": "ENSP00000369497.3:p.Gln2655_Ile3418delinsLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247169" }, { "coordinates": [ { "allele": "T", "end": 8190, "referenceAllele": "C", "start": 8189 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000544455.5:c.7963C>T" ], "proteinEffect": { "hgvs": "ENSP00000439902.1:p.Gln2655Ter", "hgvsWellDefined": "ENSP00000439902.1:p.Gln2655_Ile3418delinsLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247233" }, { "@id": "http://reg.genome.network/allele/PA260960", "coordinates": [ { "allele": "T", "end": 8190, "referenceAllele": "C", "start": 8189 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "NM_000059.3:c.7963C>T", "LRG_293t1:c.7963C>T" ], "proteinEffect": { "hgvs": "NP_000050.2:p.Gln2655Ter", "hgvsWellDefined": "NP_000050.2:p.Gln2655_Ile3418delinsLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006123" }, { "coordinates": [ { "allele": "T", "end": 8286, "referenceAllele": "C", "start": 8285 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "XM_011535203.1:c.7963C>T" ], "proteinEffect": { "hgvs": "XP_011533505.1:p.Gln2655Ter", "hgvsWellDefined": "XP_011533505.1:p.Gln2655_Ile3418delinsLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102211" }, { "coordinates": [ { "allele": "T", "end": 8100, "referenceAllele": "C", "start": 8099 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "XM_011535204.1:c.7867C>T" ], "proteinEffect": { "hgvs": "XP_011533506.1:p.Gln2623Ter", "hgvsWellDefined": "XP_011533506.1:p.Gln2623_Ile3386delinsLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102212" }, { "coordinates": [ { "allele": "T", "end": 8196, "referenceAllele": "C", "start": 8195 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "XM_011535205.1:c.7963C>T" ], "proteinEffect": { "hgvs": "XP_011533507.1:p.Gln2655Ter", "hgvsWellDefined": "XP_011533507.1:p.Gln2655_Tyr2920delinsLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluLeuTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102213" }, { "@id": "http://reg.genome.network/allele/PA2573057140", "coordinates": [ { "allele": "T", "end": 8162, "referenceAllele": "C", "start": 8161 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "NM_000059.4:c.7963C>T" ], "proteinEffect": { "hgvs": "NP_000050.3:p.Gln2655Ter", "hgvsWellDefined": "NP_000050.3:p.Gln2655_Ile3418delinsLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS710794", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000380152.8:c.7963C>T" }, "RefSeq": { "hgvs": "NM_000059.4:c.7963C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000369497.3:p.Gln2655Ter" }, "RefSeq": { "hgvs": "NP_000050.3:p.Gln2655Ter" } } } } ], "type": "nucleotide" }