{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA406379637", "communityStandardTitle": [ "NM_000400.4(ERCC2):c.121G>T (p.Glu41Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=615830[alleleid]", "alleleId": 615830, "preferredName": "NM_000400.4(ERCC2):c.121G>T (p.Glu41Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/627442", "RCV": [ "RCV000770818" ], "variationId": 627442 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.45872390C>A?assembly=hg19", "id": "chr19:g.45872390C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.45369132C>A?assembly=hg38", "id": "chr19:g.45369132C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1568546252", "rs": 1568546252 } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 45369132, "referenceAllele": "C", "start": 45369131 } ], "hgvs": [ "NC_000019.10:g.45369132C>A", "CM000681.2:g.45369132C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 45872390, "referenceAllele": "C", "start": 45872389 } ], "hgvs": [ "NC_000019.9:g.45872390C>A", "CM000681.1:g.45872390C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 50564230, "referenceAllele": "C", "start": 50564229 } ], "hgvs": [ "NC_000019.8:g.50564230C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "T", "end": 6456, "referenceAllele": "G", "start": 6455 } ], "hgvs": [ "NG_007067.2:g.6456G>T", "LRG_461:g.6456G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000447" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 169, "referenceAllele": "G", "start": 168 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000391944.8:c.121G>T" ], "proteinEffect": { "hgvs": "ENSP00000375808.4:p.Glu41Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS824443" }, { "coordinates": [ { "allele": "T", "end": 169, "referenceAllele": "G", "start": 168 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000682414.1:c.121G>T" ], "proteinEffect": { "hgvs": "ENSP00000507019.1:p.Glu41Ter", "hgvsWellDefined": "ENSP00000507019.1:p.Glu41_Leu760delinsMetProSerGlyThrGlyLysThrValSerLeuLeuAlaLeuIleMetAlaTyrGlnArgAlaTyrProLeuGluValThrLysLeuIleTyrCysSerArgThrValProGluIleGluLysValIleGluGluLeuArgLysLeuLeuAsnPheTyrGluLysGlnGluGlyGluLysLeuProPheLeuGlyLeuAlaLeuSerSerArgLysAsnLeuCysIleHisProGluValThrProLeuArgPheGlyLysAspValAspGlyLysCysHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827406" }, { "coordinates": [ { "allele": "T", "end": 73, "referenceAllele": "G", "start": 72 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000682508.1:n.73G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827498" }, { "coordinates": [ { "allele": "T", "end": 169, "referenceAllele": "G", "start": 168 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000684218.1:c.121G>T" ], "proteinEffect": { "hgvs": "ENSP00000507804.1:p.Glu41Ter", "hgvsWellDefined": "ENSP00000507804.1:p.Glu41_Pro205delinsMetProSerGlyThrGlyLysThrValSerLeuLeuAlaLeuIleMetAlaTyrGlnArgAlaTyrProLeuGluValThrLysLeuIleTyrCysSerArgThrValProGluIleGluLysValIleGluGluLeuArgLysLeuLeuAsnPheTyrGluLysGlnGluGlyGluLysLeuProPheLeuGlyLeuAlaLeuSerSerArgLysAsnLeuCysIleHisProGluValThrProLeuArgPheGlyLysAspValAspGlyLysCysHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerThrThrSerAlaSerThrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829175" }, { "coordinates": [ { "allele": "T", "end": 69, "referenceAllele": "G", "start": 68 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000684407.1:c.-3G>T" ], "proteinEffect": { "hgvs": "ENSP00000507775.1:n.-3G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS829362" }, { "coordinates": [ { "allele": "T", "end": 169, "referenceAllele": "G", "start": 168 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000684458.1:c.121G>T" ], "proteinEffect": { "hgvs": "ENSP00000508260.1:p.Glu41Ter", "hgvsWellDefined": "ENSP00000508260.1:p.Glu41_Pro459delinsMetProSerGlyThrGlyLysThrValSerLeuLeuAlaLeuIleMetAlaTyrGlnArgAlaTyrProLeuGluValThrLysLeuIleTyrCysSerArgThrValProGluIleGluLysValIleGluGluLeuArgLysLeuLeuAsnPheTyrGluLysGlnGluGlyGluLysLeuProPheLeuGlyLeuAlaLeuSerSerArgLysAsnLeuCysIleHisProGluValThrProLeuArgPheGlyLysAspValAspGlyLysCysHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysAlaAlaTrpThrProArgTrpProSerAsnProTyrLeuSerValSerSerLeuSerSerSerHisLeuGlyHisCysProArgTrpThrSerThrProArgSerTrpThrSerThrProSerProTrpGlnProSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829412" }, { "coordinates": [ { "allele": "T", "end": 154, "referenceAllele": "G", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000391945.10:c.121G>T" ], "proteinEffect": { "hgvs": "ENSP00000375809.4:p.Glu41Ter", "hgvsWellDefined": "ENSP00000375809.4:p.Glu41_Leu760delinsMetProSerGlyThrGlyLysThrValSerLeuLeuAlaLeuIleMetAlaTyrGlnArgAlaTyrProLeuGluValThrLysLeuIleTyrCysSerArgThrValProGluIleGluLysValIleGluGluLeuArgLysLeuLeuAsnPheTyrGluLysGlnGluGlyGluLysLeuProPheLeuGlyLeuAlaLeuSerSerArgLysAsnLeuCysIleHisProGluValThrProLeuArgPheGlyLysAspValAspGlyLysCysHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752942", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000391945.10:c.121G>T" }, "RefSeq": { "hgvs": "NM_000400.4:c.121G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000375809.4:p.Glu41Ter" }, "RefSeq": { "hgvs": "NP_000391.1:p.Glu41Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 187, "referenceAllele": "G", "start": 186 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000586131.6:c.49G>T" ], "proteinEffect": { "hgvs": "ENSP00000464887.1:p.Glu17Ter", "hgvsWellDefined": "ENSP00000464887.1:p.Glu17Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS761023" }, { "coordinates": [ { "allele": "T", "end": 141, "referenceAllele": "G", "start": 140 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000646507.1:n.141G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768913" }, { "coordinates": [ { "allele": "T", "end": 802, "referenceAllele": "G", "start": 801 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000391941.6:c.49G>T" ], "proteinEffect": { "hgvs": "ENSP00000375805.2:p.Glu17Ter", "hgvsWellDefined": "ENSP00000375805.2:p.Glu17_Arg706del" }, "referenceSequence": "http://reg.genome.network/refseq/RS274831" }, { "coordinates": [ { "allele": "T", "end": 168, "referenceAllele": "G", "start": 167 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000391944.7:c.121G>T" ], "proteinEffect": { "hgvs": "ENSP00000375808.3:p.Glu41Ter", "hgvsWellDefined": "ENSP00000375808.3:p.Glu41_Leu682delinsMetProSerGlyThrGlyLysThrValSerLeuLeuAlaLeuIleMetAlaTyrGlnArgAlaTyrProLeuGluValThrLysLeuIleTyrCysSerArgThrValProGluIleGluLysValIleGluGluLeuArgLysLeuLeuAsnPheTyrGluLysGlnGluGlyGluLysLeuProPheLeuGlyLeuAlaLeuSerSerArgLysAsnLeuCysIleHisProGluIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274833" }, { "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "G", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000391945.8:c.121G>T" ], "proteinEffect": { "hgvs": "ENSP00000375809.3:p.Glu41Ter", "hgvsWellDefined": "ENSP00000375809.3:p.Glu41_Leu760delinsMetProSerGlyThrGlyLysThrValSerLeuLeuAlaLeuIleMetAlaTyrGlnArgAlaTyrProLeuGluValThrLysLeuIleTyrCysSerArgThrValProGluIleGluLysValIleGluGluLeuArgLysLeuLeuAsnPheTyrGluLysGlnGluGlyGluLysLeuProPheLeuGlyLeuAlaLeuSerSerArgLysAsnLeuCysIleHisProGluValThrProLeuArgPheGlyLysAspValAspGlyLysCysHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274834" }, { "coordinates": [ { "allele": "T", "end": 268, "referenceAllele": "G", "start": 267 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000485403.6:c.49G>T" ], "proteinEffect": { "hgvs": "ENSP00000431229.2:p.Glu17Ter", "hgvsWellDefined": "ENSP00000431229.2:p.Glu17_Pro405delinsMetProSerGlyThrGlyLysThrValSerLeuLeuAlaLeuIleMetAlaTyrGlnArgAlaTyrProLeuGluValThrLysLeuIleTyrCysSerArgThrValProGluIleGluLysValIleGluGluLeuArgLysLeuLeuAsnPheTyrGluLysGlnGluGlyGluLysLeuProPheLeuGlyLeuAlaLeuSerSerArgLysAsnLeuCysIleHisProGluValThrProLeuArgPheGlyLysAspValAspGlyLysCysHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyGlnAlaGlnHisCysGlySerSerArgAsnGlnLysArgSerHisProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS324435" }, { "coordinates": [ { "allele": "T", "end": 179, "referenceAllele": "G", "start": 178 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000586131.5:c.49G>T" ], "proteinEffect": { "hgvs": "ENSP00000464887.1:p.Glu17Ter", "hgvsWellDefined": "ENSP00000464887.1:p.Glu17Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS389189" }, { "coordinates": [ { "allele": "T", "end": 36, "referenceAllele": "G", "start": 35 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000586441.1:n.36G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS389391" }, { "coordinates": [ { "allele": "T", "end": 36, "referenceAllele": "G", "start": 35 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000586737.5:n.36G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS389602" }, { "coordinates": [ { "allele": "T", "end": 396, "endIntronDirection": "-", "endIntronOffset": 139, "referenceAllele": "G", "start": 396, "startIntronDirection": "-", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000586856.1:c.34-140G>T" ], "proteinEffect": { "hgvs": "ENSP00000466998.1:n.34-140G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS389688" }, { "coordinates": [ { "allele": "T", "end": 138, "referenceAllele": "G", "start": 137 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "ENST00000591309.5:c.121G>T" ], "proteinEffect": { "hgvs": "ENSP00000465207.1:p.Glu41Ter", "hgvsWellDefined": "ENSP00000465207.1:p.Glu41_Pro127delinsMetProSerGlyThrGlyLysThrValSerLeuLeuAlaLeuIleMetAlaTyrGlnArgAlaTyrProLeuGluValThrLysLeuIleTyrCysSerArgThrValProGluIleGluLysValIleGluGluLeuArgLysLeuLeuAsnPheTyrGluLysGlnGluGlyGluLysLeuProPheLeuGlyLeuAlaLeuSerSerArgLysAsnLeuCysIleHisProGluThrThrSerAlaSerThrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS392789" }, { "@id": "http://reg.genome.network/allele/PA913198154", "coordinates": [ { "allele": "T", "end": 168, "referenceAllele": "G", "start": 167 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "NM_000400.3:c.121G>T", "LRG_461t1:c.121G>T" ], "proteinEffect": { "hgvs": "NP_000391.1:p.Glu41Ter", "hgvsWellDefined": "NP_000391.1:p.Glu41_Leu760delinsMetProSerGlyThrGlyLysThrValSerLeuLeuAlaLeuIleMetAlaTyrGlnArgAlaTyrProLeuGluValThrLysLeuIleTyrCysSerArgThrValProGluIleGluLysValIleGluGluLeuArgLysLeuLeuAsnPheTyrGluLysGlnGluGlyGluLysLeuProPheLeuGlyLeuAlaLeuSerSerArgLysAsnLeuCysIleHisProGluValThrProLeuArgPheGlyLysAspValAspGlyLysCysHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006461" }, { "@id": "http://reg.genome.network/allele/PA2825743664", "coordinates": [ { "allele": "T", "end": 471, "referenceAllele": "G", "start": 470 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "NM_001130867.1:c.49G>T" ], "proteinEffect": { "hgvs": "NP_001124339.1:p.Glu17Ter", "hgvsWellDefined": "NP_001124339.1:p.Glu17_Pro405delinsMetProSerGlyThrGlyLysThrValSerLeuLeuAlaLeuIleMetAlaTyrGlnArgAlaTyrProLeuGluValThrLysLeuIleTyrCysSerArgThrValProGluIleGluLysValIleGluGluLeuArgLysLeuLeuAsnPheTyrGluLysGlnGluGlyGluLysLeuProPheLeuGlyLeuAlaLeuSerSerArgLysAsnLeuCysIleHisProGluValThrProLeuArgPheGlyLysAspValAspGlyLysCysHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyGlnAlaGlnHisCysGlySerSerArgAsnGlnLysArgSerHisProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012110" }, { "coordinates": [ { "allele": "T", "end": 211, "endIntronDirection": "-", "endIntronOffset": 139, "referenceAllele": "G", "start": 211, "startIntronDirection": "-", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "XM_011526611.1:c.106-140G>T" ], "proteinEffect": { "hgvs": "XP_011524913.1:n.106-140G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS093713" }, { "coordinates": [ { "allele": "T", "end": 168, "referenceAllele": "G", "start": 167 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "XR_935763.1:n.168G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS131004" }, { "coordinates": [ { "allele": "T", "end": 212, "endIntronDirection": "-", "endIntronOffset": 139, "referenceAllele": "G", "start": 212, "startIntronDirection": "-", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "XM_011526611.2:c.106-140G>T" ], "proteinEffect": { "hgvs": "XP_011524913.1:n.106-140G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS548334" }, { "coordinates": [ { "allele": "T", "end": 64, "referenceAllele": "G", "start": 63 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "XM_017026467.1:c.-3G>T" ], "proteinEffect": { "hgvs": "XP_016881956.1:n.-3G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS576612" }, { "coordinates": [ { "allele": "T", "end": 168, "referenceAllele": "G", "start": 167 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "XR_001753633.2:n.168G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS600116" }, { "coordinates": [ { "allele": "T", "end": 168, "referenceAllele": "G", "start": 167 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "XR_001753634.2:n.168G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS600117" }, { "@id": "http://reg.genome.network/allele/PA913198154", "coordinates": [ { "allele": "T", "end": 154, "referenceAllele": "G", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "NM_000400.4:c.121G>T" ], "proteinEffect": { "hgvs": "NP_000391.1:p.Glu41Ter", "hgvsWellDefined": "NP_000391.1:p.Glu41_Leu760delinsMetProSerGlyThrGlyLysThrValSerLeuLeuAlaLeuIleMetAlaTyrGlnArgAlaTyrProLeuGluValThrLysLeuIleTyrCysSerArgThrValProGluIleGluLysValIleGluGluLeuArgLysLeuLeuAsnPheTyrGluLysGlnGluGlyGluLysLeuProPheLeuGlyLeuAlaLeuSerSerArgLysAsnLeuCysIleHisProGluValThrProLeuArgPheGlyLysAspValAspGlyLysCysHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674827", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000391945.10:c.121G>T" }, "RefSeq": { "hgvs": "NM_000400.4:c.121G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000375809.4:p.Glu41Ter" }, "RefSeq": { "hgvs": "NP_000391.1:p.Glu41Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825743664", "coordinates": [ { "allele": "T", "end": 457, "referenceAllele": "G", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "NM_001130867.2:c.49G>T" ], "proteinEffect": { "hgvs": "NP_001124339.1:p.Glu17Ter", "hgvsWellDefined": "NP_001124339.1:p.Glu17_Pro405delinsMetProSerGlyThrGlyLysThrValSerLeuLeuAlaLeuIleMetAlaTyrGlnArgAlaTyrProLeuGluValThrLysLeuIleTyrCysSerArgThrValProGluIleGluLysValIleGluGluLeuArgLysLeuLeuAsnPheTyrGluLysGlnGluGlyGluLysLeuProPheLeuGlyLeuAlaLeuSerSerArgLysAsnLeuCysIleHisProGluValThrProLeuArgPheGlyLysAspValAspGlyLysCysHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyGlnAlaGlnHisCysGlySerSerArgAsnGlnLysArgSerHisProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712357" } ], "type": "nucleotide" }