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"http://reg.genome.network/refseq/RS247233" }, { "@id": "http://reg.genome.network/allele/PA269399", "coordinates": [ { "allele": "G", "end": 9583, "referenceAllele": "T", "start": 9582 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "NM_000059.3:c.9356T>G", "LRG_293t1:c.9356T>G" ], "proteinEffect": { "hgvs": "NP_000050.2:p.Leu3119Ter", "hgvsWellDefined": "NP_000050.2:p.Leu3119_Ile3418delinsIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006123" }, { "coordinates": [ { "allele": "G", "end": 9679, "referenceAllele": "T", "start": 9678 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "XM_011535203.1:c.9356T>G" ], "proteinEffect": { "hgvs": "XP_011533505.1:p.Leu3119Ter", "hgvsWellDefined": "XP_011533505.1:p.Leu3119_Ile3418delinsIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102211" }, { "coordinates": [ { "allele": "G", "end": 9493, "referenceAllele": "T", "start": 9492 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "XM_011535204.1:c.9260T>G" ], "proteinEffect": { "hgvs": "XP_011533506.1:p.Leu3087Ter", "hgvsWellDefined": "XP_011533506.1:p.Leu3087_Ile3386delinsIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102212" }, { "@id": "http://reg.genome.network/allele/PA2573058430", "coordinates": [ { "allele": "G", "end": 9555, "referenceAllele": "T", "start": 9554 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "NM_000059.4:c.9356T>G" ], "proteinEffect": { "hgvs": "NP_000050.3:p.Leu3119Ter", "hgvsWellDefined": "NP_000050.3:p.Leu3119_Ile3418delinsIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS710794", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000380152.8:c.9356T>G" }, "RefSeq": { "hgvs": "NM_000059.4:c.9356T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000369497.3:p.Leu3119Ter" }, "RefSeq": { "hgvs": "NP_000050.3:p.Leu3119Ter" } } } } ], "type": "nucleotide" }