{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA406369793", "communityStandardTitle": [ "NM_000400.4(ERCC2):c.1230C>G (p.Tyr410Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2834330[alleleid]", "alleleId": 2834330, "preferredName": "NM_000400.4(ERCC2):c.1230C>G (p.Tyr410Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2675057", "RCV": [ "RCV003467933" ], "variationId": 2675057 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.45864789G>C?assembly=hg19", "id": "chr19:g.45864789G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.45361531G>C?assembly=hg38", "id": "chr19:g.45361531G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/142184249", "rs": 142184249 } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "C", "end": 45361531, "referenceAllele": "G", "start": 45361530 } ], "hgvs": [ "NC_000019.10:g.45361531G>C", "CM000681.2:g.45361531G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "C", "end": 45864789, "referenceAllele": "G", "start": 45864788 } ], "hgvs": [ "NC_000019.9:g.45864789G>C", "CM000681.1:g.45864789G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "C", "end": 50556629, "referenceAllele": "G", "start": 50556628 } ], "hgvs": [ "NC_000019.8:g.50556629G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "G", "end": 14057, "referenceAllele": "C", "start": 14056 } ], "hgvs": [ "NG_007067.2:g.14057C>G", "LRG_461:g.14057C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000447" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1278, "referenceAllele": "C", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000391944.8:c.1230C>G" ], "proteinEffect": { "hgvs": "ENSP00000375808.4:p.Tyr410Ter", "hgvsWellDefined": "ENSP00000375808.4:p.Tyr410_Pro829delinsAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgValArgProAlaSerProSerArgHisProProArgLeuSerPheSerSerArgLysSerProTrpIleLeuProThrProHisProGlnProAlaCysProProAlaLeuSerLysGluLysPheIleValHisLeuArgAlaArgLeuTrpGlyGluGlyGlyAspSerArgGlyHisArgCysGlnGlnValAlaGlnAlaArgGlnGlyGluArgSerTrpGlyGluGluAlaLeuGlyValPheArgArgAspGlyAlaGlyLeuGluLysAlaGlyProSerProThrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824443" }, { "coordinates": [ { "allele": "G", "end": 1278, "referenceAllele": "C", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000682414.1:c.1230C>G" ], "proteinEffect": { "hgvs": "ENSP00000507019.1:p.Tyr410Ter", "hgvsWellDefined": "ENSP00000507019.1:p.Tyr410_Leu760delinsAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827406" }, { "coordinates": [ { "allele": "G", "end": 1259, "referenceAllele": "C", "start": 1258 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000682508.1:n.1259C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS827498" }, { "coordinates": [ { "allele": "G", "end": 1154, "referenceAllele": "C", "start": 1153 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000684218.1:c.*488C>G" ], "proteinEffect": { "hgvs": "ENSP00000507804.1:n.*488C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS829175" }, { "coordinates": [ { "allele": "G", "end": 1178, "referenceAllele": "C", "start": 1177 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000684407.1:c.1107C>G" ], "proteinEffect": { "hgvs": "ENSP00000507775.1:p.Tyr369Ter", "hgvsWellDefined": "ENSP00000507775.1:p.Tyr369_Leu719delinsAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829362" }, { "coordinates": [ { "allele": "G", "end": 1278, "referenceAllele": "C", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000684458.1:c.1230C>G" ], "proteinEffect": { "hgvs": "ENSP00000508260.1:p.Tyr410Ter", "hgvsWellDefined": "ENSP00000508260.1:p.Tyr410_Pro459delinsAlaLysAlaAlaTrpThrProArgTrpProSerAsnProTyrLeuSerValSerSerLeuSerSerSerHisLeuGlyHisCysProArgTrpThrSerThrProArgSerTrpThrSerThrProSerProTrpGlnProSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829412" }, { "coordinates": [ { "allele": "G", "end": 1263, "referenceAllele": "C", "start": 1262 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000391945.10:c.1230C>G" ], "proteinEffect": { "hgvs": "ENSP00000375809.4:p.Tyr410Ter", "hgvsWellDefined": "ENSP00000375809.4:p.Tyr410_Leu760delinsAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752942", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000391945.10:c.1230C>G" }, "RefSeq": { "hgvs": "NM_000400.4:c.1230C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000375809.4:p.Tyr410Ter" }, "RefSeq": { "hgvs": "NP_000391.1:p.Tyr410Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 353, "referenceAllele": "C", "start": 352 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000587376.6:c.353C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS761078" }, { "coordinates": [ { "allele": "G", "end": 1327, "referenceAllele": "C", "start": 1326 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000646507.1:n.1327C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS768913" }, { "coordinates": [ { "allele": "G", "end": 1911, "referenceAllele": "C", "start": 1910 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000391941.6:c.1158C>G" ], "proteinEffect": { "hgvs": "ENSP00000375805.2:p.Tyr386Ter", "hgvsWellDefined": "ENSP00000375805.2:p.Tyr386_Arg706del" }, "referenceSequence": "http://reg.genome.network/refseq/RS274831" }, { "coordinates": [ { "allele": "G", "end": 401, "referenceAllele": "C", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000391942.6:n.401C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS274832" }, { "coordinates": [ { "allele": "G", "end": 1043, "referenceAllele": "C", "start": 1042 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000391944.7:c.996C>G" ], "proteinEffect": { "hgvs": "ENSP00000375808.3:p.Tyr332Ter", "hgvsWellDefined": "ENSP00000375808.3:p.Tyr332_Leu682delinsAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274833" }, { "coordinates": [ { "allele": "G", "end": 1308, "referenceAllele": "C", "start": 1307 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000391945.8:c.1230C>G" ], "proteinEffect": { "hgvs": "ENSP00000375809.3:p.Tyr410Ter", "hgvsWellDefined": "ENSP00000375809.3:p.Tyr410_Leu760delinsAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274834" }, { "coordinates": [ { "allele": "G", "end": 1377, "referenceAllele": "C", "start": 1376 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000485403.6:c.1158C>G" ], "proteinEffect": { "hgvs": "ENSP00000431229.2:p.Tyr386Ter", "hgvsWellDefined": "ENSP00000431229.2:p.Tyr386_Pro405delinsAlaLysGlyGlnAlaGlnHisCysGlySerSerArgAsnGlnLysArgSerHisProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS324435" }, { "coordinates": [ { "allele": "G", "end": 353, "referenceAllele": "C", "start": 352 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000587376.5:c.353C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS390034" }, { "@id": "http://reg.genome.network/allele/PA2580109315", "coordinates": [ { "allele": "G", "end": 1277, "referenceAllele": "C", "start": 1276 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "NM_000400.3:c.1230C>G", "LRG_461t1:c.1230C>G" ], "proteinEffect": { "hgvs": "NP_000391.1:p.Tyr410Ter", "hgvsWellDefined": "NP_000391.1:p.Tyr410_Leu760delinsAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006461" }, { "@id": "http://reg.genome.network/allele/PA2825744245", "coordinates": [ { "allele": "G", "end": 1580, "referenceAllele": "C", "start": 1579 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "NM_001130867.1:c.1158C>G" ], "proteinEffect": { "hgvs": "NP_001124339.1:p.Tyr386Ter", "hgvsWellDefined": "NP_001124339.1:p.Tyr386_Pro405delinsAlaLysGlyGlnAlaGlnHisCysGlySerSerArgAsnGlnLysArgSerHisProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012110" }, { "coordinates": [ { "allele": "G", "end": 1258, "referenceAllele": "C", "start": 1257 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "XM_011526611.1:c.1152C>G" ], "proteinEffect": { "hgvs": "XP_011524913.1:p.Tyr384Ter", "hgvsWellDefined": "XP_011524913.1:p.Tyr384_Leu734delinsAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093713" }, { "coordinates": [ { "allele": "G", "end": 1277, "referenceAllele": "C", "start": 1276 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "XR_935763.1:n.1277C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS131004" }, { "coordinates": [ { "allele": "G", "end": 1259, "referenceAllele": "C", "start": 1258 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "XM_011526611.2:c.1152C>G" ], "proteinEffect": { "hgvs": "XP_011524913.1:p.Tyr384Ter", "hgvsWellDefined": "XP_011524913.1:p.Tyr384_Leu734delinsAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548334" }, { "coordinates": [ { "allele": "G", "end": 1173, "referenceAllele": "C", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "XM_017026467.1:c.1107C>G" ], "proteinEffect": { "hgvs": "XP_016881956.1:p.Tyr369Ter", "hgvsWellDefined": "XP_016881956.1:p.Tyr369_Leu719delinsAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576612" }, { "coordinates": [ { "allele": "G", "end": 1277, "referenceAllele": "C", "start": 1276 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "XR_001753633.2:n.1277C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS600116" }, { "coordinates": [ { "allele": "G", "end": 1277, "referenceAllele": "C", "start": 1276 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "XR_001753634.2:n.1277C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS600117" }, { "@id": "http://reg.genome.network/allele/PA2580109315", "coordinates": [ { "allele": "G", "end": 1263, "referenceAllele": "C", "start": 1262 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "NM_000400.4:c.1230C>G" ], "proteinEffect": { "hgvs": "NP_000391.1:p.Tyr410Ter", "hgvsWellDefined": "NP_000391.1:p.Tyr410_Leu760delinsAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674827", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000391945.10:c.1230C>G" }, "RefSeq": { "hgvs": "NM_000400.4:c.1230C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000375809.4:p.Tyr410Ter" }, "RefSeq": { "hgvs": "NP_000391.1:p.Tyr410Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825744245", "coordinates": [ { "allele": "G", "end": 1566, "referenceAllele": "C", "start": 1565 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "NM_001130867.2:c.1158C>G" ], "proteinEffect": { "hgvs": "NP_001124339.1:p.Tyr386Ter", "hgvsWellDefined": "NP_001124339.1:p.Tyr386_Pro405delinsAlaLysGlyGlnAlaGlnHisCysGlySerSerArgAsnGlnLysArgSerHisProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712357" } ], "type": "nucleotide" }