{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7538329", "communityStandardTitle": [ "NM_001363711.2(DUOX2):c.2202G>A (p.Trp734Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6349110", "active": true, "id": "COSM6349110" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2894898[alleleid]", "alleleId": 2894898, "preferredName": "NM_001363711.2(DUOX2):c.2202G>A (p.Trp734Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2736204", "RCV": [ "RCV003559848" ], "variationId": 2736204 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/15-45397973-C-T", "id": "15-45397973-C-T", "variant": "15:45397973 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.45397973C>T?assembly=hg19", "id": "chr15:g.45397973C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.45105775C>T?assembly=hg38", "id": "chr15:g.45105775C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/769789467", "rs": 769789467 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-45397973-C-T?dataset=gnomad_r2_1", "id": "15-45397973-C-T", "variant": "15:45397973 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-45105775-C-T?dataset=gnomad_r4", "id": "15-45105775-C-T", "variant": "15:45105775 C / T" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 45105775, "referenceAllele": "C", "start": 45105774 } ], "hgvs": [ "NC_000015.10:g.45105775C>T", "CM000677.2:g.45105775C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 45397973, "referenceAllele": "C", "start": 45397972 } ], "hgvs": [ "NC_000015.9:g.45397973C>T", "CM000677.1:g.45397973C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 43185265, "referenceAllele": "C", "start": 43185264 } ], "hgvs": [ "NC_000015.8:g.43185265C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "A", "end": 13387, "referenceAllele": "G", "start": 13386 } ], "hgvs": [ "NG_009447.1:g.13387G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001599" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2416, "referenceAllele": "G", "start": 2415 } ], "gene": "http://reg.genome.network/gene/GN013273", "geneNCBI_id": 50506, "geneSymbol": "DUOX2", "hgvs": [ "ENST00000389039.11:c.2202G>A" ], "proteinEffect": { "hgvs": "ENSP00000373691.7:p.Trp734Ter", "hgvsWellDefined": "ENSP00000373691.7:p.Trp734_Phe1548delinsAspPheCysValArgTrpAlaLeuGlyLeuHisValAlaGluMetSerGluLysGluLeuPheArgLysAlaValThrLysGlnGlnArgGluArgIleLeuGluIlePhePheArgHisLeuPheAlaGlnValLeuAspIleAsnGlnAlaAspAlaGlyThrLeuProLeuAspSerSerGlnLysValArgGluAlaLeuThrCysGluLeuSerArgAlaGluPheAlaGluSerLeuGlyLeuLysProGlnAspMetPheValGluSerMetPheSerLeuAlaAspLysAspGlyAsnGlyTyrLeuSerPheArgGluPheLeuAspIleLeuValValPheMetLysGlySerProGluAspLysSerArgLeuMetPheThrMetTyrAspLeuAspGluAsnGlyPheLeuSerLysAspGluPhePheThrMetMetArgSerPheIleGluIleSerAsnAsnCysLeuSerLysAlaGlnLeuAlaGluValValGluSerMetPheArgGluSerGlyPheGlnAspLysGluGluLeuThrTrpGluAspPheHisPheMetLeuArgAspHisAspSerGluLeuArgPheThrGlnLeuCysValLysGlyGlyGlyGlyGlyGlyAsnGlyIleArgAspIlePheLysGlnAsnIleSerCysArgValSerPheIleThrArgThrProGlyGluArgSerHisProGlnGlyLeuGlyProProAlaProGluAlaProGluLeuGlyGlyProGlyLeuLysLysArgPheGlyLysLysAlaAlaValProThrProArgLeuTyrThrGluAlaLeuGlnGluLysMetGlnArgGlyPheLeuAlaGlnLysLeuGlnGlnTyrLysArgPheValGluAsnTyrArgArgHisIleValCysValAlaIlePheSerAlaIleCysValGlyValPheAlaAspArgAlaTyrTyrTyrGlyPheAlaSerProProSerAspIleAlaGlnThrThrLeuValGlyIleIleLeuSerArgGlyThrAlaAlaSerValSerPheMetPheSerTyrIleLeuLeuThrMetCysArgAsnLeuIleThrPheLeuArgGluThrPheLeuAsnArgTyrValProPheAspAlaAlaValAspPheHisArgTrpIleAlaMetAlaAlaValValLeuAlaIleLeuHisSerAlaGlyHisAlaValAsnValTyrIlePheSerValSerProLeuSerLeuLeuAlaCysIlePheProAsnValPheValAsnAspGlySerLysLeuProGlnLysPheTyrTrpTrpPhePheGlnThrValProGlyMetThrGlyValLeuLeuLeuLeuValLeuAlaIleMetTyrValPheAlaSerHisHisPheArgArgArgSerPheArgGlyPheTrpLeuThrHisHisLeuTyrIleLeuLeuTyrAlaLeuLeuIleIleHisGlySerTyrAlaLeuIleGlnLeuProThrPheHisIleTyrPheLeuValProAlaIleIleTyrGlyGlyAspLysLeuValSerLeuSerArgLysLysValGluIleSerValValLysAlaGluLeuLeuProSerGlyValThrTyrLeuGlnPheGlnArgProGlnGlyPheGluTyrLysSerGlyGlnTrpValArgIleAlaCysLeuAlaLeuGlyThrThrGluTyrHisProPheThrLeuThrSerAlaProHisGluAspThrLeuSerLeuHisIleArgAlaValGlyProTrpThrThrArgLeuArgGluIleTyrSerSerProLysGlyAsnGlyCysAlaGlyTyrProLysLeuTyrLeuAspGlyProPheGlyGluGlyHisGlnGluTrpHisLysPheGluValSerValLeuValGlyGlyGlyIleGlyValThrProPheAlaSerIleLeuLysAspLeuValPheLysSerSerLeuGlySerGlnMetLeuCysLysLysIleTyrPheIleTrpValThrArgThrGlnArgGlnPheGluTrpLeuAlaAspIleIleGlnGluValGluGluAsnAspHisGlnAspLeuValSerValHisIleTyrValThrGlnLeuAlaGluLysPheAspLeuArgThrThrMetLeuTyrIleCysGluArgHisPheGlnLysValLeuAsnArgSerLeuPheThrGlyLeuArgSerIleThrHisPheGlyArgProProPheGluProPhePheAsnSerLeuGlnGluValHisProGlnValArgLysIleGlyValPheSerCysGlyProProGlyMetThrLysAsnValGluLysAlaCysGlnLeuValAsnArgGlnAspArgAlaHisPheMetHisHisTyrGluAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752778", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389039.11:c.2202G>A" }, "RefSeq": { "hgvs": "NM_001363711.2:c.2202G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000373691.7:p.Trp734Ter" }, "RefSeq": { "hgvs": "NP_001350640.1:p.Trp734Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2588, "referenceAllele": "G", "start": 2587 } ], "gene": "http://reg.genome.network/gene/GN013273", "geneNCBI_id": 50506, "geneSymbol": "DUOX2", "hgvs": [ "ENST00000389039.10:c.2202G>A" ], "proteinEffect": { "hgvs": "ENSP00000373691.6:p.Trp734Ter", "hgvsWellDefined": "ENSP00000373691.6:p.Trp734_Phe1548delinsAspPheCysValArgTrpAlaLeuGlyLeuHisValAlaGluMetSerGluLysGluLeuPheArgLysAlaValThrLysGlnGlnArgGluArgIleLeuGluIlePhePheArgHisLeuPheAlaGlnValLeuAspIleAsnGlnAlaAspAlaGlyThrLeuProLeuAspSerSerGlnLysValArgGluAlaLeuThrCysGluLeuSerArgAlaGluPheAlaGluSerLeuGlyLeuLysProGlnAspMetPheValGluSerMetPheSerLeuAlaAspLysAspGlyAsnGlyTyrLeuSerPheArgGluPheLeuAspIleLeuValValPheMetLysGlySerProGluAspLysSerArgLeuMetPheThrMetTyrAspLeuAspGluAsnGlyPheLeuSerLysAspGluPhePheThrMetMetArgSerPheIleGluIleSerAsnAsnCysLeuSerLysAlaGlnLeuAlaGluValValGluSerMetPheArgGluSerGlyPheGlnAspLysGluGluLeuThrTrpGluAspPheHisPheMetLeuArgAspHisAspSerGluLeuArgPheThrGlnLeuCysValLysGlyGlyGlyGlyGlyGlyAsnGlyIleArgAspIlePheLysGlnAsnIleSerCysArgValSerPheIleThrArgThrProGlyGluArgSerHisProGlnGlyLeuGlyProProAlaProGluAlaProGluLeuGlyGlyProGlyLeuLysLysArgPheGlyLysLysAlaAlaValProThrProArgLeuTyrThrGluAlaLeuGlnGluLysMetGlnArgGlyPheLeuAlaGlnLysLeuGlnGlnTyrLysArgPheValGluAsnTyrArgArgHisIleValCysValAlaIlePheSerAlaIleCysValGlyValPheAlaAspArgAlaTyrTyrTyrGlyPheAlaSerProProSerAspIleAlaGlnThrThrLeuValGlyIleIleLeuSerArgGlyThrAlaAlaSerValSerPheMetPheSerTyrIleLeuLeuThrMetCysArgAsnLeuIleThrPheLeuArgGluThrPheLeuAsnArgTyrValProPheAspAlaAlaValAspPheHisArgTrpIleAlaMetAlaAlaValValLeuAlaIleLeuHisSerAlaGlyHisAlaValAsnValTyrIlePheSerValSerProLeuSerLeuLeuAlaCysIlePheProAsnValPheValAsnAspGlySerLysLeuProGlnLysPheTyrTrpTrpPhePheGlnThrValProGlyMetThrGlyValLeuLeuLeuLeuValLeuAlaIleMetTyrValPheAlaSerHisHisPheArgArgArgSerPheArgGlyPheTrpLeuThrHisHisLeuTyrIleLeuLeuTyrAlaLeuLeuIleIleHisGlySerTyrAlaLeuIleGlnLeuProThrPheHisIleTyrPheLeuValProAlaIleIleTyrGlyGlyAspLysLeuValSerLeuSerArgLysLysValGluIleSerValValLysAlaGluLeuLeuProSerGlyValThrTyrLeuGlnPheGlnArgProGlnGlyPheGluTyrLysSerGlyGlnTrpValArgIleAlaCysLeuAlaLeuGlyThrThrGluTyrHisProPheThrLeuThrSerAlaProHisGluAspThrLeuSerLeuHisIleArgAlaValGlyProTrpThrThrArgLeuArgGluIleTyrSerSerProLysGlyAsnGlyCysAlaGlyTyrProLysLeuTyrLeuAspGlyProPheGlyGluGlyHisGlnGluTrpHisLysPheGluValSerValLeuValGlyGlyGlyIleGlyValThrProPheAlaSerIleLeuLysAspLeuValPheLysSerSerLeuGlySerGlnMetLeuCysLysLysIleTyrPheIleTrpValThrArgThrGlnArgGlnPheGluTrpLeuAlaAspIleIleGlnGluValGluGluAsnAspHisGlnAspLeuValSerValHisIleTyrValThrGlnLeuAlaGluLysPheAspLeuArgThrThrMetLeuTyrIleCysGluArgHisPheGlnLysValLeuAsnArgSerLeuPheThrGlyLeuArgSerIleThrHisPheGlyArgProProPheGluProPhePheAsnSerLeuGlnGluValHisProGlnValArgLysIleGlyValPheSerCysGlyProProGlyMetThrLysAsnValGluLysAlaCysGlnLeuValAsnArgGlnAspArgAlaHisPheMetHisHisTyrGluAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274132" }, { "coordinates": [ { "allele": "A", "end": 3933, "referenceAllele": "G", "start": 3932 } ], "gene": "http://reg.genome.network/gene/GN013273", "geneNCBI_id": 50506, "geneSymbol": "DUOX2", "hgvs": [ "ENST00000558383.1:n.3933G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS373759" }, { "coordinates": [ { "allele": "A", "end": 2405, "referenceAllele": "G", "start": 2404 } ], "gene": "http://reg.genome.network/gene/GN013273", "geneNCBI_id": 50506, "geneSymbol": "DUOX2", "hgvs": [ "ENST00000603300.1:c.2202G>A" ], "proteinEffect": { "hgvs": "ENSP00000475084.1:p.Trp734Ter", "hgvsWellDefined": "ENSP00000475084.1:p.Trp734_Phe1548delinsAspPheCysValArgTrpAlaLeuGlyLeuHisValAlaGluMetSerGluLysGluLeuPheArgLysAlaValThrLysGlnGlnArgGluArgIleLeuGluIlePhePheArgHisLeuPheAlaGlnValLeuAspIleAsnGlnAlaAspAlaGlyThrLeuProLeuAspSerSerGlnLysValArgGluAlaLeuThrCysGluLeuSerArgAlaGluPheAlaGluSerLeuGlyLeuLysProGlnAspMetPheValGluSerMetPheSerLeuAlaAspLysAspGlyAsnGlyTyrLeuSerPheArgGluPheLeuAspIleLeuValValPheMetLysGlySerProGluAspLysSerArgLeuMetPheThrMetTyrAspLeuAspGluAsnGlyPheLeuSerLysAspGluPhePheThrMetMetArgSerPheIleGluIleSerAsnAsnCysLeuSerLysAlaGlnLeuAlaGluValValGluSerMetPheArgGluSerGlyPheGlnAspLysGluGluLeuThrTrpGluAspPheHisPheMetLeuArgAspHisAspSerGluLeuArgPheThrGlnLeuCysValLysGlyGlyGlyGlyGlyGlyAsnGlyIleArgAspIlePheLysGlnAsnIleSerCysArgValSerPheIleThrArgThrProGlyGluArgSerHisProGlnGlyLeuGlyProProAlaProGluAlaProGluLeuGlyGlyProGlyLeuLysLysArgPheGlyLysLysAlaAlaValProThrProArgLeuTyrThrGluAlaLeuGlnGluLysMetGlnArgGlyPheLeuAlaGlnLysLeuGlnGlnTyrLysArgPheValGluAsnTyrArgArgHisIleValCysValAlaIlePheSerAlaIleCysValGlyValPheAlaAspArgAlaTyrTyrTyrGlyPheAlaSerProProSerAspIleAlaGlnThrThrLeuValGlyIleIleLeuSerArgGlyThrAlaAlaSerValSerPheMetPheSerTyrIleLeuLeuThrMetCysArgAsnLeuIleThrPheLeuArgGluThrPheLeuAsnArgTyrValProPheAspAlaAlaValAspPheHisArgTrpIleAlaMetAlaAlaValValLeuAlaIleLeuHisSerAlaGlyHisAlaValAsnValTyrIlePheSerValSerProLeuSerLeuLeuAlaCysIlePheProAsnValPheValAsnAspGlySerLysLeuProGlnLysPheTyrTrpTrpPhePheGlnThrValProGlyMetThrGlyValLeuLeuLeuLeuValLeuAlaIleMetTyrValPheAlaSerHisHisPheArgArgArgSerPheArgGlyPheTrpLeuThrHisHisLeuTyrIleLeuLeuTyrAlaLeuLeuIleIleHisGlySerTyrAlaLeuIleGlnLeuProThrPheHisIleTyrPheLeuValProAlaIleIleTyrGlyGlyAspLysLeuValSerLeuSerArgLysLysValGluIleSerValValLysAlaGluLeuLeuProSerGlyValThrTyrLeuGlnPheGlnArgProGlnGlyPheGluTyrLysSerGlyGlnTrpValArgIleAlaCysLeuAlaLeuGlyThrThrGluTyrHisProPheThrLeuThrSerAlaProHisGluAspThrLeuSerLeuHisIleArgAlaValGlyProTrpThrThrArgLeuArgGluIleTyrSerSerProLysGlyAsnGlyCysAlaGlyTyrProLysLeuTyrLeuAspGlyProPheGlyGluGlyHisGlnGluTrpHisLysPheGluValSerValLeuValGlyGlyGlyIleGlyValThrProPheAlaSerIleLeuLysAspLeuValPheLysSerSerLeuGlySerGlnMetLeuCysLysLysIleTyrPheIleTrpValThrArgThrGlnArgGlnPheGluTrpLeuAlaAspIleIleGlnGluValGluGluAsnAspHisGlnAspLeuValSerValHisIleTyrValThrGlnLeuAlaGluLysPheAspLeuArgThrThrMetLeuTyrIleCysGluArgHisPheGlnLysValLeuAsnArgSerLeuPheThrGlyLeuArgSerIleThrHisPheGlyArgProProPheGluProPhePheAsnSerLeuGlnGluValHisProGlnValArgLysIleGlyValPheSerCysGlyProProGlyMetThrLysAsnValGluLysAlaCysGlnLeuValAsnArgGlnAspArgAlaHisPheMetHisHisTyrGluAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS398565" }, { "@id": "http://reg.genome.network/allele/PA2741941033", "coordinates": [ { "allele": "A", "end": 2405, "referenceAllele": "G", "start": 2404 } ], "gene": "http://reg.genome.network/gene/GN013273", "geneNCBI_id": 50506, "geneSymbol": "DUOX2", "hgvs": [ "NM_014080.4:c.2202G>A" ], "proteinEffect": { "hgvs": "NP_054799.4:p.Trp734Ter", "hgvsWellDefined": "NP_054799.4:p.Trp734_Phe1548delinsAspPheCysValArgTrpAlaLeuGlyLeuHisValAlaGluMetSerGluLysGluLeuPheArgLysAlaValThrLysGlnGlnArgGluArgIleLeuGluIlePhePheArgHisLeuPheAlaGlnValLeuAspIleAsnGlnAlaAspAlaGlyThrLeuProLeuAspSerSerGlnLysValArgGluAlaLeuThrCysGluLeuSerArgAlaGluPheAlaGluSerLeuGlyLeuLysProGlnAspMetPheValGluSerMetPheSerLeuAlaAspLysAspGlyAsnGlyTyrLeuSerPheArgGluPheLeuAspIleLeuValValPheMetLysGlySerProGluAspLysSerArgLeuMetPheThrMetTyrAspLeuAspGluAsnGlyPheLeuSerLysAspGluPhePheThrMetMetArgSerPheIleGluIleSerAsnAsnCysLeuSerLysAlaGlnLeuAlaGluValValGluSerMetPheArgGluSerGlyPheGlnAspLysGluGluLeuThrTrpGluAspPheHisPheMetLeuArgAspHisAspSerGluLeuArgPheThrGlnLeuCysValLysGlyGlyGlyGlyGlyGlyAsnGlyIleArgAspIlePheLysGlnAsnIleSerCysArgValSerPheIleThrArgThrProGlyGluArgSerHisProGlnGlyLeuGlyProProAlaProGluAlaProGluLeuGlyGlyProGlyLeuLysLysArgPheGlyLysLysAlaAlaValProThrProArgLeuTyrThrGluAlaLeuGlnGluLysMetGlnArgGlyPheLeuAlaGlnLysLeuGlnGlnTyrLysArgPheValGluAsnTyrArgArgHisIleValCysValAlaIlePheSerAlaIleCysValGlyValPheAlaAspArgAlaTyrTyrTyrGlyPheAlaSerProProSerAspIleAlaGlnThrThrLeuValGlyIleIleLeuSerArgGlyThrAlaAlaSerValSerPheMetPheSerTyrIleLeuLeuThrMetCysArgAsnLeuIleThrPheLeuArgGluThrPheLeuAsnArgTyrValProPheAspAlaAlaValAspPheHisArgTrpIleAlaMetAlaAlaValValLeuAlaIleLeuHisSerAlaGlyHisAlaValAsnValTyrIlePheSerValSerProLeuSerLeuLeuAlaCysIlePheProAsnValPheValAsnAspGlySerLysLeuProGlnLysPheTyrTrpTrpPhePheGlnThrValProGlyMetThrGlyValLeuLeuLeuLeuValLeuAlaIleMetTyrValPheAlaSerHisHisPheArgArgArgSerPheArgGlyPheTrpLeuThrHisHisLeuTyrIleLeuLeuTyrAlaLeuLeuIleIleHisGlySerTyrAlaLeuIleGlnLeuProThrPheHisIleTyrPheLeuValProAlaIleIleTyrGlyGlyAspLysLeuValSerLeuSerArgLysLysValGluIleSerValValLysAlaGluLeuLeuProSerGlyValThrTyrLeuGlnPheGlnArgProGlnGlyPheGluTyrLysSerGlyGlnTrpValArgIleAlaCysLeuAlaLeuGlyThrThrGluTyrHisProPheThrLeuThrSerAlaProHisGluAspThrLeuSerLeuHisIleArgAlaValGlyProTrpThrThrArgLeuArgGluIleTyrSerSerProLysGlyAsnGlyCysAlaGlyTyrProLysLeuTyrLeuAspGlyProPheGlyGluGlyHisGlnGluTrpHisLysPheGluValSerValLeuValGlyGlyGlyIleGlyValThrProPheAlaSerIleLeuLysAspLeuValPheLysSerSerLeuGlySerGlnMetLeuCysLysLysIleTyrPheIleTrpValThrArgThrGlnArgGlnPheGluTrpLeuAlaAspIleIleGlnGluValGluGluAsnAspHisGlnAspLeuValSerValHisIleTyrValThrGlnLeuAlaGluLysPheAspLeuArgThrThrMetLeuTyrIleCysGluArgHisPheGlnLysValLeuAsnArgSerLeuPheThrGlyLeuArgSerIleThrHisPheGlyArgProProPheGluProPhePheAsnSerLeuGlnGluValHisProGlnValArgLysIleGlyValPheSerCysGlyProProGlyMetThrLysAsnValGluLysAlaCysGlnLeuValAsnArgGlnAspArgAlaHisPheMetHisHisTyrGluAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032924" }, { "coordinates": [ { "allele": "A", "end": 2405, "referenceAllele": "G", "start": 2404 } ], "gene": "http://reg.genome.network/gene/GN013273", "geneNCBI_id": 50506, "geneSymbol": "DUOX2", "hgvs": [ "XM_005254421.2:c.2202G>A" ], "proteinEffect": { "hgvs": "XP_005254478.1:p.Trp734Ter", "hgvsWellDefined": "XP_005254478.1:p.Trp734_Phe1548delinsAspPheCysValArgTrpAlaLeuGlyLeuHisValAlaGluMetSerGluLysGluLeuPheArgLysAlaValThrLysGlnGlnArgGluArgIleLeuGluIlePhePheArgHisLeuPheAlaGlnValLeuAspIleAsnGlnAlaAspAlaGlyThrLeuProLeuAspSerSerGlnLysValArgGluAlaLeuThrCysGluLeuSerArgAlaGluPheAlaGluSerLeuGlyLeuLysProGlnAspMetPheValGluSerMetPheSerLeuAlaAspLysAspGlyAsnGlyTyrLeuSerPheArgGluPheLeuAspIleLeuValValPheMetLysGlySerProGluAspLysSerArgLeuMetPheThrMetTyrAspLeuAspGluAsnGlyPheLeuSerLysAspGluPhePheThrMetMetArgSerPheIleGluIleSerAsnAsnCysLeuSerLysAlaGlnLeuAlaGluValValGluSerMetPheArgGluSerGlyPheGlnAspLysGluGluLeuThrTrpGluAspPheHisPheMetLeuArgAspHisAspSerGluLeuArgPheThrGlnLeuCysValLysGlyGlyGlyGlyGlyGlyAsnGlyIleArgAspIlePheLysGlnAsnIleSerCysArgValSerPheIleThrArgThrProGlyGluArgSerHisProGlnGlyLeuGlyProProAlaProGluAlaProGluLeuGlyGlyProGlyLeuLysLysArgPheGlyLysLysAlaAlaValProThrProArgLeuTyrThrGluAlaLeuGlnGluLysMetGlnArgGlyPheLeuAlaGlnLysLeuGlnGlnTyrLysArgPheValGluAsnTyrArgArgHisIleValCysValAlaIlePheSerAlaIleCysValGlyValPheAlaAspArgAlaTyrTyrTyrGlyPheAlaSerProProSerAspIleAlaGlnThrThrLeuValGlyIleIleLeuSerArgGlyThrAlaAlaSerValSerPheMetPheSerTyrIleLeuLeuThrMetCysArgAsnLeuIleThrPheLeuArgGluThrPheLeuAsnArgTyrValProPheAspAlaAlaValAspPheHisArgTrpIleAlaMetAlaAlaValValLeuAlaIleLeuHisSerAlaGlyHisAlaValAsnValTyrIlePheSerValSerProLeuSerLeuLeuAlaCysIlePheProAsnValPheValAsnAspGlySerLysLeuProGlnLysPheTyrTrpTrpPhePheGlnThrValProGlyMetThrGlyValLeuLeuLeuLeuValLeuAlaIleMetTyrValPheAlaSerHisHisPheArgArgArgSerPheArgGlyPheTrpLeuThrHisHisLeuTyrIleLeuLeuTyrAlaLeuLeuIleIleHisGlySerTyrAlaLeuIleGlnLeuProThrPheHisIleTyrPheLeuValProAlaIleIleTyrGlyGlyAspLysLeuValSerLeuSerArgLysLysValGluIleSerValValLysAlaGluLeuLeuProSerGlyValThrTyrLeuGlnPheGlnArgProGlnGlyPheGluTyrLysSerGlyGlnTrpValArgIleAlaCysLeuAlaLeuGlyThrThrGluTyrHisProPheThrLeuThrSerAlaProHisGluAspThrLeuSerLeuHisIleArgAlaValGlyProTrpThrThrArgLeuArgGluIleTyrSerSerProLysGlyAsnGlyCysAlaGlyTyrProLysLeuTyrLeuAspGlyProPheGlyGluGlyHisGlnGluTrpHisLysPheGluValSerValLeuValGlyGlyGlyIleGlyValThrProPheAlaSerIleLeuLysAspLeuValPheLysSerSerLeuGlySerGlnMetLeuCysLysLysIleTyrPheIleTrpValThrArgThrGlnArgGlnPheGluTrpLeuAlaAspIleIleGlnGluValGluGluAsnAspHisGlnAspLeuValSerValHisIleTyrValThrGlnLeuAlaGluLysPheAspLeuArgThrThrMetLeuTyrIleCysGluArgHisPheGlnLysValLeuAsnArgSerLeuPheThrGlyLeuArgSerIleThrHisPheGlyArgProProPheGluProPhePheAsnSerLeuGlnGluValHisProGlnValArgLysIleGlyValPheSerCysGlyProProGlyMetThrLysAsnValGluLysAlaCysGlnLeuValAsnArgGlnAspArgAlaHisPheMetHisHisTyrGluAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060618" }, { "@id": "http://reg.genome.network/allele/PA2828104866", "coordinates": [ { "allele": "A", "end": 2405, "referenceAllele": "G", "start": 2404 } ], "gene": "http://reg.genome.network/gene/GN013273", "geneNCBI_id": 50506, "geneSymbol": "DUOX2", "hgvs": [ "NM_001363711.1:c.2202G>A" ], "proteinEffect": { "hgvs": "NP_001350640.1:p.Trp734Ter", "hgvsWellDefined": "NP_001350640.1:p.Trp734_Phe1548delinsAspPheCysValArgTrpAlaLeuGlyLeuHisValAlaGluMetSerGluLysGluLeuPheArgLysAlaValThrLysGlnGlnArgGluArgIleLeuGluIlePhePheArgHisLeuPheAlaGlnValLeuAspIleAsnGlnAlaAspAlaGlyThrLeuProLeuAspSerSerGlnLysValArgGluAlaLeuThrCysGluLeuSerArgAlaGluPheAlaGluSerLeuGlyLeuLysProGlnAspMetPheValGluSerMetPheSerLeuAlaAspLysAspGlyAsnGlyTyrLeuSerPheArgGluPheLeuAspIleLeuValValPheMetLysGlySerProGluAspLysSerArgLeuMetPheThrMetTyrAspLeuAspGluAsnGlyPheLeuSerLysAspGluPhePheThrMetMetArgSerPheIleGluIleSerAsnAsnCysLeuSerLysAlaGlnLeuAlaGluValValGluSerMetPheArgGluSerGlyPheGlnAspLysGluGluLeuThrTrpGluAspPheHisPheMetLeuArgAspHisAspSerGluLeuArgPheThrGlnLeuCysValLysGlyGlyGlyGlyGlyGlyAsnGlyIleArgAspIlePheLysGlnAsnIleSerCysArgValSerPheIleThrArgThrProGlyGluArgSerHisProGlnGlyLeuGlyProProAlaProGluAlaProGluLeuGlyGlyProGlyLeuLysLysArgPheGlyLysLysAlaAlaValProThrProArgLeuTyrThrGluAlaLeuGlnGluLysMetGlnArgGlyPheLeuAlaGlnLysLeuGlnGlnTyrLysArgPheValGluAsnTyrArgArgHisIleValCysValAlaIlePheSerAlaIleCysValGlyValPheAlaAspArgAlaTyrTyrTyrGlyPheAlaSerProProSerAspIleAlaGlnThrThrLeuValGlyIleIleLeuSerArgGlyThrAlaAlaSerValSerPheMetPheSerTyrIleLeuLeuThrMetCysArgAsnLeuIleThrPheLeuArgGluThrPheLeuAsnArgTyrValProPheAspAlaAlaValAspPheHisArgTrpIleAlaMetAlaAlaValValLeuAlaIleLeuHisSerAlaGlyHisAlaValAsnValTyrIlePheSerValSerProLeuSerLeuLeuAlaCysIlePheProAsnValPheValAsnAspGlySerLysLeuProGlnLysPheTyrTrpTrpPhePheGlnThrValProGlyMetThrGlyValLeuLeuLeuLeuValLeuAlaIleMetTyrValPheAlaSerHisHisPheArgArgArgSerPheArgGlyPheTrpLeuThrHisHisLeuTyrIleLeuLeuTyrAlaLeuLeuIleIleHisGlySerTyrAlaLeuIleGlnLeuProThrPheHisIleTyrPheLeuValProAlaIleIleTyrGlyGlyAspLysLeuValSerLeuSerArgLysLysValGluIleSerValValLysAlaGluLeuLeuProSerGlyValThrTyrLeuGlnPheGlnArgProGlnGlyPheGluTyrLysSerGlyGlnTrpValArgIleAlaCysLeuAlaLeuGlyThrThrGluTyrHisProPheThrLeuThrSerAlaProHisGluAspThrLeuSerLeuHisIleArgAlaValGlyProTrpThrThrArgLeuArgGluIleTyrSerSerProLysGlyAsnGlyCysAlaGlyTyrProLysLeuTyrLeuAspGlyProPheGlyGluGlyHisGlnGluTrpHisLysPheGluValSerValLeuValGlyGlyGlyIleGlyValThrProPheAlaSerIleLeuLysAspLeuValPheLysSerSerLeuGlySerGlnMetLeuCysLysLysIleTyrPheIleTrpValThrArgThrGlnArgGlnPheGluTrpLeuAlaAspIleIleGlnGluValGluGluAsnAspHisGlnAspLeuValSerValHisIleTyrValThrGlnLeuAlaGluLysPheAspLeuArgThrThrMetLeuTyrIleCysGluArgHisPheGlnLysValLeuAsnArgSerLeuPheThrGlyLeuArgSerIleThrHisPheGlyArgProProPheGluProPhePheAsnSerLeuGlnGluValHisProGlnValArgLysIleGlyValPheSerCysGlyProProGlyMetThrLysAsnValGluLysAlaCysGlnLeuValAsnArgGlnAspArgAlaHisPheMetHisHisTyrGluAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523501" }, { "@id": "http://reg.genome.network/allele/PA2828104866", "coordinates": [ { "allele": "A", "end": 2416, "referenceAllele": "G", "start": 2415 } ], "gene": "http://reg.genome.network/gene/GN013273", "geneNCBI_id": 50506, "geneSymbol": "DUOX2", "hgvs": [ "NM_001363711.2:c.2202G>A" ], "proteinEffect": { "hgvs": "NP_001350640.1:p.Trp734Ter", "hgvsWellDefined": "NP_001350640.1:p.Trp734_Phe1548delinsAspPheCysValArgTrpAlaLeuGlyLeuHisValAlaGluMetSerGluLysGluLeuPheArgLysAlaValThrLysGlnGlnArgGluArgIleLeuGluIlePhePheArgHisLeuPheAlaGlnValLeuAspIleAsnGlnAlaAspAlaGlyThrLeuProLeuAspSerSerGlnLysValArgGluAlaLeuThrCysGluLeuSerArgAlaGluPheAlaGluSerLeuGlyLeuLysProGlnAspMetPheValGluSerMetPheSerLeuAlaAspLysAspGlyAsnGlyTyrLeuSerPheArgGluPheLeuAspIleLeuValValPheMetLysGlySerProGluAspLysSerArgLeuMetPheThrMetTyrAspLeuAspGluAsnGlyPheLeuSerLysAspGluPhePheThrMetMetArgSerPheIleGluIleSerAsnAsnCysLeuSerLysAlaGlnLeuAlaGluValValGluSerMetPheArgGluSerGlyPheGlnAspLysGluGluLeuThrTrpGluAspPheHisPheMetLeuArgAspHisAspSerGluLeuArgPheThrGlnLeuCysValLysGlyGlyGlyGlyGlyGlyAsnGlyIleArgAspIlePheLysGlnAsnIleSerCysArgValSerPheIleThrArgThrProGlyGluArgSerHisProGlnGlyLeuGlyProProAlaProGluAlaProGluLeuGlyGlyProGlyLeuLysLysArgPheGlyLysLysAlaAlaValProThrProArgLeuTyrThrGluAlaLeuGlnGluLysMetGlnArgGlyPheLeuAlaGlnLysLeuGlnGlnTyrLysArgPheValGluAsnTyrArgArgHisIleValCysValAlaIlePheSerAlaIleCysValGlyValPheAlaAspArgAlaTyrTyrTyrGlyPheAlaSerProProSerAspIleAlaGlnThrThrLeuValGlyIleIleLeuSerArgGlyThrAlaAlaSerValSerPheMetPheSerTyrIleLeuLeuThrMetCysArgAsnLeuIleThrPheLeuArgGluThrPheLeuAsnArgTyrValProPheAspAlaAlaValAspPheHisArgTrpIleAlaMetAlaAlaValValLeuAlaIleLeuHisSerAlaGlyHisAlaValAsnValTyrIlePheSerValSerProLeuSerLeuLeuAlaCysIlePheProAsnValPheValAsnAspGlySerLysLeuProGlnLysPheTyrTrpTrpPhePheGlnThrValProGlyMetThrGlyValLeuLeuLeuLeuValLeuAlaIleMetTyrValPheAlaSerHisHisPheArgArgArgSerPheArgGlyPheTrpLeuThrHisHisLeuTyrIleLeuLeuTyrAlaLeuLeuIleIleHisGlySerTyrAlaLeuIleGlnLeuProThrPheHisIleTyrPheLeuValProAlaIleIleTyrGlyGlyAspLysLeuValSerLeuSerArgLysLysValGluIleSerValValLysAlaGluLeuLeuProSerGlyValThrTyrLeuGlnPheGlnArgProGlnGlyPheGluTyrLysSerGlyGlnTrpValArgIleAlaCysLeuAlaLeuGlyThrThrGluTyrHisProPheThrLeuThrSerAlaProHisGluAspThrLeuSerLeuHisIleArgAlaValGlyProTrpThrThrArgLeuArgGluIleTyrSerSerProLysGlyAsnGlyCysAlaGlyTyrProLysLeuTyrLeuAspGlyProPheGlyGluGlyHisGlnGluTrpHisLysPheGluValSerValLeuValGlyGlyGlyIleGlyValThrProPheAlaSerIleLeuLysAspLeuValPheLysSerSerLeuGlySerGlnMetLeuCysLysLysIleTyrPheIleTrpValThrArgThrGlnArgGlnPheGluTrpLeuAlaAspIleIleGlnGluValGluGluAsnAspHisGlnAspLeuValSerValHisIleTyrValThrGlnLeuAlaGluLysPheAspLeuArgThrThrMetLeuTyrIleCysGluArgHisPheGlnLysValLeuAsnArgSerLeuPheThrGlyLeuArgSerIleThrHisPheGlyArgProProPheGluProPhePheAsnSerLeuGlnGluValHisProGlnValArgLysIleGlyValPheSerCysGlyProProGlyMetThrLysAsnValGluLysAlaCysGlnLeuValAsnArgGlnAspArgAlaHisPheMetHisHisTyrGluAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690750", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389039.11:c.2202G>A" }, "RefSeq": { "hgvs": "NM_001363711.2:c.2202G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000373691.7:p.Trp734Ter" }, "RefSeq": { "hgvs": "NP_001350640.1:p.Trp734Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2741941033", "coordinates": [ { "allele": "A", "end": 2416, "referenceAllele": "G", "start": 2415 } ], "gene": "http://reg.genome.network/gene/GN013273", "geneNCBI_id": 50506, "geneSymbol": "DUOX2", "hgvs": [ "NM_014080.5:c.2202G>A" ], "proteinEffect": { "hgvs": "NP_054799.4:p.Trp734Ter", "hgvsWellDefined": "NP_054799.4:p.Trp734_Phe1548delinsAspPheCysValArgTrpAlaLeuGlyLeuHisValAlaGluMetSerGluLysGluLeuPheArgLysAlaValThrLysGlnGlnArgGluArgIleLeuGluIlePhePheArgHisLeuPheAlaGlnValLeuAspIleAsnGlnAlaAspAlaGlyThrLeuProLeuAspSerSerGlnLysValArgGluAlaLeuThrCysGluLeuSerArgAlaGluPheAlaGluSerLeuGlyLeuLysProGlnAspMetPheValGluSerMetPheSerLeuAlaAspLysAspGlyAsnGlyTyrLeuSerPheArgGluPheLeuAspIleLeuValValPheMetLysGlySerProGluAspLysSerArgLeuMetPheThrMetTyrAspLeuAspGluAsnGlyPheLeuSerLysAspGluPhePheThrMetMetArgSerPheIleGluIleSerAsnAsnCysLeuSerLysAlaGlnLeuAlaGluValValGluSerMetPheArgGluSerGlyPheGlnAspLysGluGluLeuThrTrpGluAspPheHisPheMetLeuArgAspHisAspSerGluLeuArgPheThrGlnLeuCysValLysGlyGlyGlyGlyGlyGlyAsnGlyIleArgAspIlePheLysGlnAsnIleSerCysArgValSerPheIleThrArgThrProGlyGluArgSerHisProGlnGlyLeuGlyProProAlaProGluAlaProGluLeuGlyGlyProGlyLeuLysLysArgPheGlyLysLysAlaAlaValProThrProArgLeuTyrThrGluAlaLeuGlnGluLysMetGlnArgGlyPheLeuAlaGlnLysLeuGlnGlnTyrLysArgPheValGluAsnTyrArgArgHisIleValCysValAlaIlePheSerAlaIleCysValGlyValPheAlaAspArgAlaTyrTyrTyrGlyPheAlaSerProProSerAspIleAlaGlnThrThrLeuValGlyIleIleLeuSerArgGlyThrAlaAlaSerValSerPheMetPheSerTyrIleLeuLeuThrMetCysArgAsnLeuIleThrPheLeuArgGluThrPheLeuAsnArgTyrValProPheAspAlaAlaValAspPheHisArgTrpIleAlaMetAlaAlaValValLeuAlaIleLeuHisSerAlaGlyHisAlaValAsnValTyrIlePheSerValSerProLeuSerLeuLeuAlaCysIlePheProAsnValPheValAsnAspGlySerLysLeuProGlnLysPheTyrTrpTrpPhePheGlnThrValProGlyMetThrGlyValLeuLeuLeuLeuValLeuAlaIleMetTyrValPheAlaSerHisHisPheArgArgArgSerPheArgGlyPheTrpLeuThrHisHisLeuTyrIleLeuLeuTyrAlaLeuLeuIleIleHisGlySerTyrAlaLeuIleGlnLeuProThrPheHisIleTyrPheLeuValProAlaIleIleTyrGlyGlyAspLysLeuValSerLeuSerArgLysLysValGluIleSerValValLysAlaGluLeuLeuProSerGlyValThrTyrLeuGlnPheGlnArgProGlnGlyPheGluTyrLysSerGlyGlnTrpValArgIleAlaCysLeuAlaLeuGlyThrThrGluTyrHisProPheThrLeuThrSerAlaProHisGluAspThrLeuSerLeuHisIleArgAlaValGlyProTrpThrThrArgLeuArgGluIleTyrSerSerProLysGlyAsnGlyCysAlaGlyTyrProLysLeuTyrLeuAspGlyProPheGlyGluGlyHisGlnGluTrpHisLysPheGluValSerValLeuValGlyGlyGlyIleGlyValThrProPheAlaSerIleLeuLysAspLeuValPheLysSerSerLeuGlySerGlnMetLeuCysLysLysIleTyrPheIleTrpValThrArgThrGlnArgGlnPheGluTrpLeuAlaAspIleIleGlnGluValGluGluAsnAspHisGlnAspLeuValSerValHisIleTyrValThrGlnLeuAlaGluLysPheAspLeuArgThrThrMetLeuTyrIleCysGluArgHisPheGlnLysValLeuAsnArgSerLeuPheThrGlyLeuArgSerIleThrHisPheGlyArgProProPheGluProPhePheAsnSerLeuGlnGluValHisProGlnValArgLysIleGlyValPheSerCysGlyProProGlyMetThrLysAsnValGluLysAlaCysGlnLeuValAsnArgGlnAspArgAlaHisPheMetHisHisTyrGluAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727939" } ], "type": "nucleotide" }