{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA9513844", "communityStandardTitle": [ "NM_000400.4(ERCC2):c.262C>T (p.Arg88Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2671150[alleleid]", "alleleId": 2671150, "preferredName": "NM_000400.4(ERCC2):c.262C>T (p.Arg88Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2506192", "RCV": [ "RCV003236423", "RCV003466048", "RCV003561256" ], "variationId": 2506192 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/19-45871986-G-A", "id": "19-45871986-G-A", "variant": "19:45871986 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.45871986G>A?assembly=hg19", "id": "chr19:g.45871986G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.45368728G>A?assembly=hg38", "id": "chr19:g.45368728G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/748842373", "rs": 748842373 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-45871986-G-A?dataset=gnomad_r2_1", "id": "19-45871986-G-A", "variant": "19:45871986 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-45368728-G-A?dataset=gnomad_r4", "id": "19-45368728-G-A", "variant": "19:45368728 G / A" } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 45368728, "referenceAllele": "G", "start": 45368727 } ], "hgvs": [ "NC_000019.10:g.45368728G>A", "CM000681.2:g.45368728G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 45871986, "referenceAllele": "G", "start": 45871985 } ], "hgvs": [ "NC_000019.9:g.45871986G>A", "CM000681.1:g.45871986G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 50563826, "referenceAllele": "G", "start": 50563825 } ], "hgvs": [ "NC_000019.8:g.50563826G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "T", "end": 6860, "referenceAllele": "C", "start": 6859 } ], "hgvs": [ "NG_007067.2:g.6860C>T", "LRG_461:g.6860C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000447" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 310, "referenceAllele": "C", "start": 309 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000391944.8:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000375808.4:p.Arg88Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS824443" }, { "coordinates": [ { "allele": "T", "end": 310, "referenceAllele": "C", "start": 309 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000682414.1:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000507019.1:p.Arg88Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS827406" }, { "coordinates": [ { "allele": "T", "end": 291, "referenceAllele": "C", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000682508.1:n.291C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827498" }, { "coordinates": [ { "allele": "T", "end": 310, "referenceAllele": "C", "start": 309 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000684218.1:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000507804.1:p.Arg88Ter", "hgvsWellDefined": "ENSP00000507804.1:p.Arg88_Pro205delinsLysLeuLeuAsnPheTyrGluLysGlnGluGlyGluLysLeuProPheLeuGlyLeuAlaLeuSerSerArgLysAsnLeuCysIleHisProGluValThrProLeuArgPheGlyLysAspValAspGlyLysCysHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerThrThrSerAlaSerThrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829175" }, { "coordinates": [ { "allele": "T", "end": 210, "referenceAllele": "C", "start": 209 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000684407.1:c.139C>T" ], "proteinEffect": { "hgvs": "ENSP00000507775.1:p.Arg47Ter", "hgvsWellDefined": "ENSP00000507775.1:p.Arg47_Leu719delinsLysLeuLeuAsnPheTyrGluLysGlnGluGlyGluLysLeuProPheLeuGlyLeuAlaLeuSerSerArgLysAsnLeuCysIleHisProGluValThrProLeuArgPheGlyLysAspValAspGlyLysCysHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829362" }, { "coordinates": [ { "allele": "T", "end": 310, "referenceAllele": "C", "start": 309 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000684458.1:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000508260.1:p.Arg88Ter", "hgvsWellDefined": "ENSP00000508260.1:p.Arg88_Pro459delinsLysLeuLeuAsnPheTyrGluLysGlnGluGlyGluLysLeuProPheLeuGlyLeuAlaLeuSerSerArgLysAsnLeuCysIleHisProGluValThrProLeuArgPheGlyLysAspValAspGlyLysCysHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysAlaAlaTrpThrProArgTrpProSerAsnProTyrLeuSerValSerSerLeuSerSerSerHisLeuGlyHisCysProArgTrpThrSerThrProArgSerTrpThrSerThrProSerProTrpGlnProSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829412" }, { "coordinates": [ { "allele": "T", "end": 295, "referenceAllele": "C", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000391945.10:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000375809.4:p.Arg88Ter", "hgvsWellDefined": "ENSP00000375809.4:p.Arg88_Leu760delinsLysLeuLeuAsnPheTyrGluLysGlnGluGlyGluLysLeuProPheLeuGlyLeuAlaLeuSerSerArgLysAsnLeuCysIleHisProGluValThrProLeuArgPheGlyLysAspValAspGlyLysCysHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752942", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000391945.10:c.262C>T" }, "RefSeq": { "hgvs": "NM_000400.4:c.262C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000375809.4:p.Arg88Ter" }, "RefSeq": { "hgvs": "NP_000391.1:p.Arg88Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 328, "referenceAllele": "C", "start": 327 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000586131.6:c.190C>T" ], "proteinEffect": { "hgvs": "ENSP00000464887.1:p.Arg64Ter", "hgvsWellDefined": "ENSP00000464887.1:p.Arg64Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS761023" }, { "coordinates": [ { "allele": "T", "end": 359, "referenceAllele": "C", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000646507.1:n.359C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768913" }, { "coordinates": [ { "allele": "T", "end": 943, "referenceAllele": "C", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000391941.6:c.190C>T" ], "proteinEffect": { "hgvs": "ENSP00000375805.2:p.Arg64Ter", "hgvsWellDefined": "ENSP00000375805.2:p.Arg64_Arg706del" }, "referenceSequence": "http://reg.genome.network/refseq/RS274831" }, { "coordinates": [ { "allele": "T", "end": 309, "referenceAllele": "C", "start": 308 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000391944.7:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000375808.3:p.Arg88Ter", "hgvsWellDefined": "ENSP00000375808.3:p.Arg88_Leu682delinsLysLeuLeuAsnPheTyrGluLysGlnGluGlyGluLysLeuProPheLeuGlyLeuAlaLeuSerSerArgLysAsnLeuCysIleHisProGluIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274833" }, { "coordinates": [ { "allele": "T", "end": 340, "referenceAllele": "C", "start": 339 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000391945.8:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000375809.3:p.Arg88Ter", "hgvsWellDefined": "ENSP00000375809.3:p.Arg88_Leu760delinsLysLeuLeuAsnPheTyrGluLysGlnGluGlyGluLysLeuProPheLeuGlyLeuAlaLeuSerSerArgLysAsnLeuCysIleHisProGluValThrProLeuArgPheGlyLysAspValAspGlyLysCysHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274834" }, { "coordinates": [ { "allele": "T", "end": 409, "referenceAllele": "C", "start": 408 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000485403.6:c.190C>T" ], "proteinEffect": { "hgvs": "ENSP00000431229.2:p.Arg64Ter", "hgvsWellDefined": "ENSP00000431229.2:p.Arg64_Pro405delinsLysLeuLeuAsnPheTyrGluLysGlnGluGlyGluLysLeuProPheLeuGlyLeuAlaLeuSerSerArgLysAsnLeuCysIleHisProGluValThrProLeuArgPheGlyLysAspValAspGlyLysCysHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyGlnAlaGlnHisCysGlySerSerArgAsnGlnLysArgSerHisProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS324435" }, { "coordinates": [ { "allele": "T", "end": 320, "referenceAllele": "C", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000586131.5:c.190C>T" ], "proteinEffect": { "hgvs": "ENSP00000464887.1:p.Arg64Ter", "hgvsWellDefined": "ENSP00000464887.1:p.Arg64Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS389189" }, { "coordinates": [ { "allele": "T", "end": 254, "referenceAllele": "C", "start": 253 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000586441.1:n.254C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS389391" }, { "coordinates": [ { "allele": "T", "end": 257, "referenceAllele": "C", "start": 256 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000586737.5:n.257C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS389602" }, { "coordinates": [ { "allele": "T", "end": 475, "referenceAllele": "C", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000586856.1:c.112C>T" ], "proteinEffect": { "hgvs": "ENSP00000466998.1:p.Arg38Ter", "hgvsWellDefined": "ENSP00000466998.1:p.Arg38_Glu109del" }, "referenceSequence": "http://reg.genome.network/refseq/RS389688" }, { "coordinates": [ { "allele": "T", "end": 279, "referenceAllele": "C", "start": 278 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000591309.5:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000465207.1:p.Arg88Ter", "hgvsWellDefined": "ENSP00000465207.1:p.Arg88_Pro127delinsLysLeuLeuAsnPheTyrGluLysGlnGluGlyGluLysLeuProPheLeuGlyLeuAlaLeuSerSerArgLysAsnLeuCysIleHisProGluThrThrSerAlaSerThrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS392789" }, { "@id": "http://reg.genome.network/allele/PA2741814469", "coordinates": [ { "allele": "T", "end": 309, "referenceAllele": "C", "start": 308 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "NM_000400.3:c.262C>T", "LRG_461t1:c.262C>T" ], "proteinEffect": { "hgvs": "NP_000391.1:p.Arg88Ter", "hgvsWellDefined": "NP_000391.1:p.Arg88_Leu760delinsLysLeuLeuAsnPheTyrGluLysGlnGluGlyGluLysLeuProPheLeuGlyLeuAlaLeuSerSerArgLysAsnLeuCysIleHisProGluValThrProLeuArgPheGlyLysAspValAspGlyLysCysHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006461" }, { "@id": "http://reg.genome.network/allele/PA2825743720", "coordinates": [ { "allele": "T", "end": 612, "referenceAllele": "C", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "NM_001130867.1:c.190C>T" ], "proteinEffect": { "hgvs": "NP_001124339.1:p.Arg64Ter", "hgvsWellDefined": "NP_001124339.1:p.Arg64_Pro405delinsLysLeuLeuAsnPheTyrGluLysGlnGluGlyGluLysLeuProPheLeuGlyLeuAlaLeuSerSerArgLysAsnLeuCysIleHisProGluValThrProLeuArgPheGlyLysAspValAspGlyLysCysHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyGlnAlaGlnHisCysGlySerSerArgAsnGlnLysArgSerHisProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012110" }, { "coordinates": [ { "allele": "T", "end": 290, "referenceAllele": "C", "start": 289 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "XM_011526611.1:c.184C>T" ], "proteinEffect": { "hgvs": "XP_011524913.1:p.Arg62Ter", "hgvsWellDefined": "XP_011524913.1:p.Arg62_Leu734delinsLysLeuLeuAsnPheTyrGluLysGlnGluGlyGluLysLeuProPheLeuGlyLeuAlaLeuSerSerArgLysAsnLeuCysIleHisProGluValThrProLeuArgPheGlyLysAspValAspGlyLysCysHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093713" }, { "coordinates": [ { "allele": "T", "end": 309, "referenceAllele": "C", "start": 308 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "XR_935763.1:n.309C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS131004" }, { "coordinates": [ { "allele": "T", "end": 291, "referenceAllele": "C", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "XM_011526611.2:c.184C>T" ], "proteinEffect": { "hgvs": "XP_011524913.1:p.Arg62Ter", "hgvsWellDefined": "XP_011524913.1:p.Arg62_Leu734delinsLysLeuLeuAsnPheTyrGluLysGlnGluGlyGluLysLeuProPheLeuGlyLeuAlaLeuSerSerArgLysAsnLeuCysIleHisProGluValThrProLeuArgPheGlyLysAspValAspGlyLysCysHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548334" }, { "coordinates": [ { "allele": "T", "end": 205, "referenceAllele": "C", "start": 204 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "XM_017026467.1:c.139C>T" ], "proteinEffect": { "hgvs": "XP_016881956.1:p.Arg47Ter", "hgvsWellDefined": "XP_016881956.1:p.Arg47_Leu719delinsLysLeuLeuAsnPheTyrGluLysGlnGluGlyGluLysLeuProPheLeuGlyLeuAlaLeuSerSerArgLysAsnLeuCysIleHisProGluValThrProLeuArgPheGlyLysAspValAspGlyLysCysHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576612" }, { "coordinates": [ { "allele": "T", "end": 309, "referenceAllele": "C", "start": 308 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "XR_001753633.2:n.309C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS600116" }, { "coordinates": [ { "allele": "T", "end": 309, "referenceAllele": "C", "start": 308 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "XR_001753634.2:n.309C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS600117" }, { "@id": "http://reg.genome.network/allele/PA2741814469", "coordinates": [ { "allele": "T", "end": 295, "referenceAllele": "C", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "NM_000400.4:c.262C>T" ], "proteinEffect": { "hgvs": "NP_000391.1:p.Arg88Ter", "hgvsWellDefined": "NP_000391.1:p.Arg88_Leu760delinsLysLeuLeuAsnPheTyrGluLysGlnGluGlyGluLysLeuProPheLeuGlyLeuAlaLeuSerSerArgLysAsnLeuCysIleHisProGluValThrProLeuArgPheGlyLysAspValAspGlyLysCysHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674827", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000391945.10:c.262C>T" }, "RefSeq": { "hgvs": "NM_000400.4:c.262C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000375809.4:p.Arg88Ter" }, "RefSeq": { "hgvs": "NP_000391.1:p.Arg88Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825743720", "coordinates": [ { "allele": "T", "end": 598, "referenceAllele": "C", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "NM_001130867.2:c.190C>T" ], "proteinEffect": { "hgvs": "NP_001124339.1:p.Arg64Ter", "hgvsWellDefined": "NP_001124339.1:p.Arg64_Pro405delinsLysLeuLeuAsnPheTyrGluLysGlnGluGlyGluLysLeuProPheLeuGlyLeuAlaLeuSerSerArgLysAsnLeuCysIleHisProGluValThrProLeuArgPheGlyLysAspValAspGlyLysCysHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyGlnAlaGlnHisCysGlySerSerArgAsnGlnLysArgSerHisProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712357" } ], "type": "nucleotide" }