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"geneSymbol": "ERCC2", "hgvs": [ "ENST00000684407.1:c.444G>A" ], "proteinEffect": { "hgvs": "ENSP00000507775.1:p.Trp148Ter", "hgvsWellDefined": 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"start": 599 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000391945.10:c.567G>A" ], "proteinEffect": { "hgvs": "ENSP00000375809.4:p.Trp189Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS752942", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000391945.10:c.567G>A" }, "RefSeq": { "hgvs": "NM_000400.4:c.567G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000375809.4:p.Trp189Ter" }, "RefSeq": { "hgvs": "NP_000391.1:p.Trp189Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 633, "referenceAllele": "G", "start": 632 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000586131.6:c.495G>A" ], "proteinEffect": { "hgvs": "ENSP00000464887.1:p.Trp165Ter", "hgvsWellDefined": "ENSP00000464887.1:p.Trp165Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS761023" }, { "coordinates": [ { "allele": "A", "end": 664, "referenceAllele": "G", "start": 663 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ 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"ENSP00000375809.3:p.Trp189_Leu760delinsCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274834" }, { "coordinates": [ { "allele": "A", "end": 714, "referenceAllele": "G", "start": 713 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000485403.6:c.495G>A" ], "proteinEffect": { "hgvs": "ENSP00000431229.2:p.Trp165Ter", "hgvsWellDefined": "ENSP00000431229.2:p.Trp165_Pro405delinsCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyGlnAlaGlnHisCysGlySerSerArgAsnGlnLysArgSerHisProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS324435" }, { "coordinates": [ { "allele": "A", "end": 625, "referenceAllele": "G", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000586131.5:c.495G>A" ], "proteinEffect": { "hgvs": "ENSP00000464887.1:p.Trp165Ter", "hgvsWellDefined": "ENSP00000464887.1:p.Trp165Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS389189" }, { "coordinates": [ { "allele": "A", "end": 559, "referenceAllele": "G", "start": 558 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000586441.1:n.559G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS389391" }, { "coordinates": [ { "allele": "A", "end": 355, "endIntronDirection": "-", "endIntronOffset": 533, "referenceAllele": "G", "start": 355, "startIntronDirection": "-", "startIntronOffset": 534 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000586737.5:n.356-534G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS389602" }, { "coordinates": [ { "allele": "A", "end": 377, "endIntronDirection": "-", "endIntronOffset": 533, "referenceAllele": "G", "start": 377, "startIntronDirection": "-", "startIntronOffset": 534 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000591309.5:c.361-534G>A" ], "proteinEffect": { "hgvs": "ENSP00000465207.1:n.361-534G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS392789" }, { "@id": "http://reg.genome.network/allele/PA915965402", "coordinates": [ { "allele": "A", "end": 614, "referenceAllele": "G", "start": 613 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "NM_000400.3:c.567G>A", "LRG_461t1:c.567G>A" ], "proteinEffect": { "hgvs": "NP_000391.1:p.Trp189Ter", "hgvsWellDefined": "NP_000391.1:p.Trp189_Leu760delinsCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006461" }, { "@id": "http://reg.genome.network/allele/PA2825743854", "coordinates": [ { "allele": "A", "end": 917, "referenceAllele": "G", "start": 916 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "NM_001130867.1:c.495G>A" ], "proteinEffect": { "hgvs": "NP_001124339.1:p.Trp165Ter", "hgvsWellDefined": "NP_001124339.1:p.Trp165_Pro405delinsCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyGlnAlaGlnHisCysGlySerSerArgAsnGlnLysArgSerHisProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012110" }, { "coordinates": [ { "allele": "A", "end": 595, "referenceAllele": "G", "start": 594 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "XM_011526611.1:c.489G>A" ], "proteinEffect": { "hgvs": "XP_011524913.1:p.Trp163Ter", "hgvsWellDefined": "XP_011524913.1:p.Trp163_Leu734delinsCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093713" }, { "coordinates": [ { "allele": "A", "end": 614, "referenceAllele": "G", "start": 613 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "XR_935763.1:n.614G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS131004" }, { "coordinates": [ { "allele": "A", "end": 596, "referenceAllele": "G", "start": 595 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "XM_011526611.2:c.489G>A" ], "proteinEffect": { "hgvs": "XP_011524913.1:p.Trp163Ter", "hgvsWellDefined": "XP_011524913.1:p.Trp163_Leu734delinsCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548334" }, { "coordinates": [ { "allele": "A", "end": 510, "referenceAllele": "G", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "XM_017026467.1:c.444G>A" ], "proteinEffect": { "hgvs": "XP_016881956.1:p.Trp148Ter", "hgvsWellDefined": "XP_016881956.1:p.Trp148_Leu719delinsCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576612" }, { "coordinates": [ { "allele": "A", "end": 614, "referenceAllele": "G", "start": 613 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "XR_001753633.2:n.614G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600116" }, { "coordinates": [ { "allele": "A", "end": 614, "referenceAllele": "G", "start": 613 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "XR_001753634.2:n.614G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600117" }, { "@id": "http://reg.genome.network/allele/PA915965402", "coordinates": [ { "allele": "A", "end": 600, "referenceAllele": "G", "start": 599 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "NM_000400.4:c.567G>A" ], "proteinEffect": { "hgvs": "NP_000391.1:p.Trp189Ter", "hgvsWellDefined": "NP_000391.1:p.Trp189_Leu760delinsCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674827", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000391945.10:c.567G>A" }, "RefSeq": { "hgvs": "NM_000400.4:c.567G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000375809.4:p.Trp189Ter" }, "RefSeq": { "hgvs": "NP_000391.1:p.Trp189Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825743854", "coordinates": [ { "allele": "A", "end": 903, "referenceAllele": "G", "start": 902 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "NM_001130867.2:c.495G>A" ], "proteinEffect": { "hgvs": "NP_001124339.1:p.Trp165Ter", "hgvsWellDefined": "NP_001124339.1:p.Trp165_Pro405delinsCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyGlnAlaGlnHisCysGlySerSerArgAsnGlnLysArgSerHisProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712357" } ], "type": "nucleotide" }