{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA025260", "communityStandardTitle": [ "NM_000059.4(BRCA2):c.7758G>A (p.Trp2586Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4990363", "active": true, "id": "COSM4990363" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4990364", "active": true, "id": "COSM4990364" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=46672[alleleid]", "alleleId": 46672, "preferredName": "NM_000059.4(BRCA2):c.7758G>A (p.Trp2586Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/38116", "RCV": [ "RCV000031698", "RCV000255811", "RCV000569377", "RCV000496860", "RCV003332090" ], "variationId": 38116 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.32932019G>A?assembly=hg19", "id": "chr13:g.32932019G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.32357882G>A?assembly=hg38", "id": "chr13:g.32357882G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/80359004", "rs": 80359004 } ] }, "genomicAlleles": [ { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 32357882, "referenceAllele": "G", "start": 32357881 } ], "hgvs": [ "NC_000013.11:g.32357882G>A", "CM000675.2:g.32357882G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000061" }, { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 32932019, "referenceAllele": "G", "start": 32932018 } ], "hgvs": [ "NC_000013.10:g.32932019G>A", "CM000675.1:g.32932019G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000037" }, { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 31830019, "referenceAllele": "G", "start": 31830018 } ], "hgvs": [ "NC_000013.9:g.31830019G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000013" }, { "coordinates": [ { "allele": "A", "end": 47403, "referenceAllele": "G", "start": 47402 } ], "hgvs": [ "NG_012772.3:g.47403G>A", "LRG_293:g.47403G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002532" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 7957, "referenceAllele": "G", "start": 7956 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000470094.2:c.7758G>A" ], "proteinEffect": { "hgvs": "ENSP00000434898.2:p.Trp2586Ter", "hgvsWellDefined": "ENSP00000434898.2:p.Trp2586_Pro3200delinsLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluArgGlnSerLeuAlaLeuSerProProGlyTrpSerThrIleAlaGlnSerArgIleThrAlaValSerAlaSerTrpAlaGlnAlaIleLeuValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914116" }, { "coordinates": [ { "allele": "A", "end": 7957, "referenceAllele": "G", "start": 7956 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000528762.2:c.7758G>A" ], "proteinEffect": { "hgvs": "ENSP00000433168.2:p.Trp2586Ter", "hgvsWellDefined": "ENSP00000433168.2:p.Trp2586_Phe2898delinsLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluValThrSerSerThrGluValLeuAsnProProLysSerSerMetArgValGlyIleAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914230" }, { "coordinates": [ { "allele": "A", "end": 7956, "referenceAllele": "G", "start": 7955 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000530893.7:c.7389G>A" ], "proteinEffect": { "hgvs": "ENSP00000499438.2:p.Trp2463Ter", "hgvsWellDefined": "ENSP00000499438.2:p.Trp2463_Ile3295delinsLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914239" }, { "coordinates": [ { "allele": "A", "end": 7957, "referenceAllele": "G", "start": 7956 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000665585.2:c.7758G>A" ], "proteinEffect": { "hgvs": "ENSP00000499570.2:p.Trp2586Ter", "hgvsWellDefined": "ENSP00000499570.2:p.Trp2586_Phe2916delinsLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluValProHisGlyTrpGlyGlyLeuArgLysLeuThrIleIleValGluAspGluGlyGluAlaSerThrPhePheThrArgTrpGlnGluArgGluTyrArgGluAsnSerHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914440" }, { "coordinates": [ { "allele": "A", "end": 7957, "referenceAllele": "G", "start": 7956 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000666593.2:c.7758G>A" ], "proteinEffect": { "hgvs": "ENSP00000499256.2:p.Trp2586Ter", "hgvsWellDefined": "ENSP00000499256.2:p.Trp2586_Ile3097delinsLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrValSerTyrGlnTrpLysIleGluAspMetIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914441" }, { "coordinates": [ { "allele": "A", "end": 7957, "referenceAllele": "G", "start": 7956 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000700202.2:c.7758G>A" ], "proteinEffect": { "hgvs": "ENSP00000514856.2:p.Trp2586Ter", "hgvsWellDefined": "ENSP00000514856.2:p.Trp2586_Ile3401delinsLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914479" }, { "coordinates": [ { "allele": "A", "end": 225, "referenceAllele": "G", "start": 224 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000700202.1:c.225G>A" ], "proteinEffect": { "hgvs": "ENSP00000514856.1:p.Trp75Ter", "hgvsWellDefined": "ENSP00000514856.1:p.Trp75_Ile890delinsLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911047" }, { "coordinates": [ { "allele": "A", "end": 7957, "referenceAllele": "G", "start": 7956 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000380152.8:c.7758G>A" ], "proteinEffect": { "hgvs": "ENSP00000369497.3:p.Trp2586Ter", "hgvsWellDefined": "ENSP00000369497.3:p.Trp2586_Ile3418delinsLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752343", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000380152.8:c.7758G>A" }, "RefSeq": { "hgvs": "NM_000059.4:c.7758G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000369497.3:p.Trp2586Ter" }, "RefSeq": { "hgvs": "NP_000050.3:p.Trp2586Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 7857, "referenceAllele": "G", "start": 7856 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000544455.6:c.7758G>A" ], "proteinEffect": { "hgvs": "ENSP00000439902.1:p.Trp2586Ter", "hgvsWellDefined": "ENSP00000439902.1:p.Trp2586_Ile3418delinsLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759772" }, { "coordinates": [ { "allele": "A", "end": 7758, "referenceAllele": "G", "start": 7757 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000614259.2:c.7758G>A" ], "proteinEffect": { "hgvs": "ENSP00000506251.1:p.Trp2586Ter", "hgvsWellDefined": "ENSP00000506251.1:p.Trp2586_Ala2649delinsLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrSerCysSerGlyLeuCysValThrLeuGlnValTrpIleGlnSerLeuPheLeuGluPheGlyPheIleIleThrIleAspGlySerTyrGlyAsnTrpGlnLeuTrpAsnValProPheLeuArgAsnLeuLeuIleAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS761959" }, { "coordinates": [ { "allele": "A", "end": 323, "referenceAllele": "G", "start": 322 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000665585.1:c.323G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS772907" }, { "coordinates": [ { "allele": "A", "end": 7883, "referenceAllele": "G", "start": 7882 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000680887.1:c.7758G>A" ], "proteinEffect": { "hgvs": "ENSP00000505508.1:p.Trp2586Ter", "hgvsWellDefined": "ENSP00000505508.1:p.Trp2586_Ile3418delinsLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780501" }, { "coordinates": [ { "allele": "A", "end": 7991, "referenceAllele": "G", "start": 7990 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000380152.7:c.7758G>A" ], "proteinEffect": { "hgvs": "ENSP00000369497.3:p.Trp2586Ter", "hgvsWellDefined": "ENSP00000369497.3:p.Trp2586_Ile3418delinsLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247169" }, { "coordinates": [ { "allele": "A", "end": 7985, "referenceAllele": "G", "start": 7984 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000544455.5:c.7758G>A" ], "proteinEffect": { "hgvs": "ENSP00000439902.1:p.Trp2586Ter", "hgvsWellDefined": "ENSP00000439902.1:p.Trp2586_Ile3418delinsLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247233" }, { "coordinates": [ { "allele": "A", "end": 7758, "referenceAllele": "G", "start": 7757 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000614259.1:n.7758G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS402107" }, { "@id": "http://reg.genome.network/allele/PA167620", "coordinates": [ { "allele": "A", "end": 7985, "referenceAllele": "G", "start": 7984 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "NM_000059.3:c.7758G>A", "LRG_293t1:c.7758G>A" ], "proteinEffect": { "hgvs": "NP_000050.2:p.Trp2586Ter", "hgvsWellDefined": "NP_000050.2:p.Trp2586_Ile3418delinsLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006123" }, { "coordinates": [ { "allele": "A", "end": 8081, "referenceAllele": "G", "start": 8080 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "XM_011535203.1:c.7758G>A" ], "proteinEffect": { "hgvs": "XP_011533505.1:p.Trp2586Ter", "hgvsWellDefined": "XP_011533505.1:p.Trp2586_Ile3418delinsLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102211" }, { "coordinates": [ { "allele": "A", "end": 7895, "referenceAllele": "G", "start": 7894 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "XM_011535204.1:c.7662G>A" ], "proteinEffect": { "hgvs": "XP_011533506.1:p.Trp2554Ter", "hgvsWellDefined": "XP_011533506.1:p.Trp2554_Ile3386delinsLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102212" }, { "coordinates": [ { "allele": "A", "end": 7991, "referenceAllele": "G", "start": 7990 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "XM_011535205.1:c.7758G>A" ], "proteinEffect": { "hgvs": "XP_011533507.1:p.Trp2586Ter", "hgvsWellDefined": "XP_011533507.1:p.Trp2586_Tyr2920delinsLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluLeuTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102213" }, { "@id": "http://reg.genome.network/allele/PA1139681068", "coordinates": [ { "allele": "A", "end": 7957, "referenceAllele": "G", "start": 7956 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "NM_000059.4:c.7758G>A" ], "proteinEffect": { "hgvs": "NP_000050.3:p.Trp2586Ter", "hgvsWellDefined": "NP_000050.3:p.Trp2586_Ile3418delinsLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS710794", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000380152.8:c.7758G>A" }, "RefSeq": { "hgvs": "NM_000059.4:c.7758G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000369497.3:p.Trp2586Ter" }, "RefSeq": { "hgvs": "NP_000050.3:p.Trp2586Ter" } } } } ], "type": "nucleotide" }