{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA347596488", "communityStandardTitle": [ "NM_004836.7(EIF2AK3):c.671G>A (p.Trp224Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.88892886C>T?assembly=hg19", "id": "chr2:g.88892886C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.88593368C>T?assembly=hg38", "id": "chr2:g.88593368C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1674932633", "rs": 1674932633 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 88593368, "referenceAllele": "C", "start": 88593367 } ], "hgvs": [ "NC_000002.12:g.88593368C>T", "CM000664.2:g.88593368C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 88892886, "referenceAllele": "C", "start": 88892885 } ], 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}, "referenceSequence": "http://reg.genome.network/refseq/RS745016", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000303236.9:c.671G>A" }, "RefSeq": { "hgvs": "NM_004836.7:c.671G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000307235.3:p.Trp224Ter" }, "RefSeq": { "hgvs": "NP_004827.4:p.Trp224Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 865, "referenceAllele": "G", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "ENST00000652099.1:c.865G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS772025" }, { "coordinates": [ { "allele": "A", "end": 547, "referenceAllele": "G", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "ENST00000652736.1:n.547G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS772379" }, { "coordinates": [ { "allele": "A", 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"ENSP00000307235.3:p.Trp224_Asn1116delinsAspSerAspGluMetGluGlnGluGluAspIleLeuLeuLeuGlnArgThrGlnLysThrValArgAlaValGlyProArgSerGlyAsnGluLysTrpAsnPheSerValGlyHisPheGluLeuArgTyrIleProAspMetGluThrArgAlaGlyPheIleGluSerThrPheLysProAsnGluAsnThrGluGluSerLysIleIleSerAspValGluGluGlnGluAlaAlaIleMetAspIleValIleLysValSerValAlaAspTrpLysValMetAlaPheSerLysLysGlyGlyHisLeuGluTrpGluTyrGlnPheCysThrProIleAlaSerAlaTrpLeuLeuLysAspGlyLysValIleProIleSerLeuPheAspAspThrSerTyrThrSerAsnAspAspValLeuGluAspGluGluAspIleValGluAlaAlaArgGlyAlaThrGluAsnSerValTyrLeuGlyMetTyrArgGlyGlnLeuTyrLeuGlnSerSerValArgIleSerGluLysPheProSerSerProLysAlaLeuGluSerValThrAsnGluAsnAlaIleIleProLeuProThrIleLysTrpLysProLeuIleHisSerProSerArgThrProValLeuValGlySerAspGluPheAspLysCysLeuSerAsnAspLysPheSerHisGluGluTyrSerAsnGlyAlaLeuSerIleLeuGlnTyrProTyrAspAsnGlyTyrTyrLeuProTyrTyrLysArgGluArgAsnLysArgSerThrGlnIleThrValArgPheLeuAspAsnProHisTyrAsnLysAsnIleArgLysLysAspProValLeuLeuLeuHisTrpTrpLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255294" }, { "coordinates": [ { "allele": "A", "end": 340, "referenceAllele": "G", "start": 339 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "ENST00000415570.1:c.308G>A" ], "proteinEffect": { "hgvs": "ENSP00000412076.1:p.Trp103Ter", "hgvsWellDefined": "ENSP00000412076.1:p.Trp103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS284052" }, { "coordinates": [ { "allele": "A", "end": 547, "referenceAllele": "G", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "ENST00000419748.5:c.218G>A" ], "proteinEffect": { "hgvs": "ENSP00000408325.1:p.Trp73Ter", "hgvsWellDefined": "ENSP00000408325.1:p.Trp73_Asn965delinsAspSerAspGluMetGluGlnGluGluAspIleLeuLeuLeuGlnArgThrGlnLysThrValArgAlaValGlyProArgSerGlyAsnGluLysTrpAsnPheSerValGlyHisPheGluLeuArgTyrIleProAspMetGluThrArgAlaGlyPheIleGluSerThrPheLysProAsnGluAsnThrGluGluSerLysIleIleSerAspValGluGluGlnGluAlaAlaIleMetAspIleValIleLysValSerValAlaAspTrpLysValMetAlaPheSerLysLysGlyGlyHisLeuGluTrpGluTyrGlnPheCysThrProIleAlaSerAlaTrpLeuLeuLysAspGlyLysValIleProIleSerLeuPheAspAspThrSerTyrThrSerAsnAspAspValLeuGluAspGluGluAspIleValGluAlaAlaArgGlyAlaThrGluAsnSerValTyrLeuGlyMetTyrArgGlyGlnLeuTyrLeuGlnSerSerValArgIleSerGluLysPheProSerSerProLysAlaLeuGluSerValThrAsnGluAsnAlaIleIleProLeuProThrIleLysTrpLysProLeuIleHisSerProSerArgThrProValLeuValGlySerAspGluPheAspLysCysLeuSerAsnAspLysPheSerHisGluGluTyrSerAsnGlyAlaLeuSerIleLeuGlnTyrProTyrAspAsnGlyTyrTyrLeuProTyrTyrLysArgGluArgAsnLysArgSerThrGlnIleThrValArgPheLeuAspAsnProHisTyrAsnLysAsnIleArgLysLysAspProValLeuLeuLeuHisTrpTrpLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS286019" }, { "coordinates": [ { "allele": "A", "end": 204, "referenceAllele": "G", "start": 203 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "ENST00000477083.1:n.204G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS317981" }, { "@id": "http://reg.genome.network/allele/PA2741853304", "coordinates": [ { "allele": "A", "end": 547, "referenceAllele": "G", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "NM_001313915.1:c.218G>A" ], "proteinEffect": { "hgvs": "NP_001300844.1:p.Trp73Ter", "hgvsWellDefined": "NP_001300844.1:p.Trp73_Asn965delinsAspSerAspGluMetGluGlnGluGluAspIleLeuLeuLeuGlnArgThrGlnLysThrValArgAlaValGlyProArgSerGlyAsnGluLysTrpAsnPheSerValGlyHisPheGluLeuArgTyrIleProAspMetGluThrArgAlaGlyPheIleGluSerThrPheLysProAsnGluAsnThrGluGluSerLysIleIleSerAspValGluGluGlnGluAlaAlaIleMetAspIleValIleLysValSerValAlaAspTrpLysValMetAlaPheSerLysLysGlyGlyHisLeuGluTrpGluTyrGlnPheCysThrProIleAlaSerAlaTrpLeuLeuLysAspGlyLysValIleProIleSerLeuPheAspAspThrSerTyrThrSerAsnAspAspValLeuGluAspGluGluAspIleValGluAlaAlaArgGlyAlaThrGluAsnSerValTyrLeuGlyMetTyrArgGlyGlnLeuTyrLeuGlnSerSerValArgIleSerGluLysPheProSerSerProLysAlaLeuGluSerValThrAsnGluAsnAlaIleIleProLeuProThrIleLysTrpLysProLeuIleHisSerProSerArgThrProValLeuValGlySerAspGluPheAspLysCysLeuSerAsnAspLysPheSerHisGluGluTyrSerAsnGlyAlaLeuSerIleLeuGlnTyrProTyrAspAsnGlyTyrTyrLeuProTyrTyrLysArgGluArgAsnLysArgSerThrGlnIleThrValArgPheLeuAspAsnProHisTyrAsnLysAsnIleArgLysLysAspProValLeuLeuLeuHisTrpTrpLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026484" }, { "@id": "http://reg.genome.network/allele/PA2829574825", "coordinates": [ { "allele": "A", "end": 973, "referenceAllele": "G", "start": 972 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "NM_004836.5:c.671G>A" ], "proteinEffect": { "hgvs": "NP_004827.4:p.Trp224Ter", "hgvsWellDefined": "NP_004827.4:p.Trp224_Asn1116delinsAspSerAspGluMetGluGlnGluGluAspIleLeuLeuLeuGlnArgThrGlnLysThrValArgAlaValGlyProArgSerGlyAsnGluLysTrpAsnPheSerValGlyHisPheGluLeuArgTyrIleProAspMetGluThrArgAlaGlyPheIleGluSerThrPheLysProAsnGluAsnThrGluGluSerLysIleIleSerAspValGluGluGlnGluAlaAlaIleMetAspIleValIleLysValSerValAlaAspTrpLysValMetAlaPheSerLysLysGlyGlyHisLeuGluTrpGluTyrGlnPheCysThrProIleAlaSerAlaTrpLeuLeuLysAspGlyLysValIleProIleSerLeuPheAspAspThrSerTyrThrSerAsnAspAspValLeuGluAspGluGluAspIleValGluAlaAlaArgGlyAlaThrGluAsnSerValTyrLeuGlyMetTyrArgGlyGlnLeuTyrLeuGlnSerSerValArgIleSerGluLysPheProSerSerProLysAlaLeuGluSerValThrAsnGluAsnAlaIleIleProLeuProThrIleLysTrpLysProLeuIleHisSerProSerArgThrProValLeuValGlySerAspGluPheAspLysCysLeuSerAsnAspLysPheSerHisGluGluTyrSerAsnGlyAlaLeuSerIleLeuGlnTyrProTyrAspAsnGlyTyrTyrLeuProTyrTyrLysArgGluArgAsnLysArgSerThrGlnIleThrValArgPheLeuAspAsnProHisTyrAsnLysAsnIleArgLysLysAspProValLeuLeuLeuHisTrpTrpLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029981" }, { "@id": "http://reg.genome.network/allele/PA2829574825", "coordinates": [ { "allele": "A", "end": 973, "referenceAllele": "G", "start": 972 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "NM_004836.6:c.671G>A" ], "proteinEffect": { "hgvs": "NP_004827.4:p.Trp224Ter", "hgvsWellDefined": "NP_004827.4:p.Trp224_Asn1116delinsAspSerAspGluMetGluGlnGluGluAspIleLeuLeuLeuGlnArgThrGlnLysThrValArgAlaValGlyProArgSerGlyAsnGluLysTrpAsnPheSerValGlyHisPheGluLeuArgTyrIleProAspMetGluThrArgAlaGlyPheIleGluSerThrPheLysProAsnGluAsnThrGluGluSerLysIleIleSerAspValGluGluGlnGluAlaAlaIleMetAspIleValIleLysValSerValAlaAspTrpLysValMetAlaPheSerLysLysGlyGlyHisLeuGluTrpGluTyrGlnPheCysThrProIleAlaSerAlaTrpLeuLeuLysAspGlyLysValIleProIleSerLeuPheAspAspThrSerTyrThrSerAsnAspAspValLeuGluAspGluGluAspIleValGluAlaAlaArgGlyAlaThrGluAsnSerValTyrLeuGlyMetTyrArgGlyGlnLeuTyrLeuGlnSerSerValArgIleSerGluLysPheProSerSerProLysAlaLeuGluSerValThrAsnGluAsnAlaIleIleProLeuProThrIleLysTrpLysProLeuIleHisSerProSerArgThrProValLeuValGlySerAspGluPheAspLysCysLeuSerAsnAspLysPheSerHisGluGluTyrSerAsnGlyAlaLeuSerIleLeuGlnTyrProTyrAspAsnGlyTyrTyrLeuProTyrTyrLysArgGluArgAsnLysArgSerThrGlnIleThrValArgPheLeuAspAsnProHisTyrAsnLysAsnIleArgLysLysAspProValLeuLeuLeuHisTrpTrpLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029982" }, { "coordinates": [ { "allele": "A", "end": 179, "referenceAllele": "G", "start": 178 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "XM_005264649.3:c.-14G>A" ], "proteinEffect": { "hgvs": "XP_005264706.1:n.-14G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS064329" }, { "coordinates": [ { "allele": "A", "end": 880, "referenceAllele": "G", "start": 879 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "XR_939749.1:n.880G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS134445" }, { "coordinates": [ { "allele": "A", "end": 865, "referenceAllele": "G", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "XM_017005376.2:c.-14G>A" ], "proteinEffect": { "hgvs": "XP_016860865.1:n.-14G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS560655" }, { "@id": "http://reg.genome.network/allele/PA2829574825", "coordinates": [ { "allele": "A", "end": 861, "referenceAllele": "G", "start": 860 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "NM_004836.7:c.671G>A" ], "proteinEffect": { "hgvs": "NP_004827.4:p.Trp224Ter", "hgvsWellDefined": "NP_004827.4:p.Trp224_Asn1116delinsAspSerAspGluMetGluGlnGluGluAspIleLeuLeuLeuGlnArgThrGlnLysThrValArgAlaValGlyProArgSerGlyAsnGluLysTrpAsnPheSerValGlyHisPheGluLeuArgTyrIleProAspMetGluThrArgAlaGlyPheIleGluSerThrPheLysProAsnGluAsnThrGluGluSerLysIleIleSerAspValGluGluGlnGluAlaAlaIleMetAspIleValIleLysValSerValAlaAspTrpLysValMetAlaPheSerLysLysGlyGlyHisLeuGluTrpGluTyrGlnPheCysThrProIleAlaSerAlaTrpLeuLeuLysAspGlyLysValIleProIleSerLeuPheAspAspThrSerTyrThrSerAsnAspAspValLeuGluAspGluGluAspIleValGluAlaAlaArgGlyAlaThrGluAsnSerValTyrLeuGlyMetTyrArgGlyGlnLeuTyrLeuGlnSerSerValArgIleSerGluLysPheProSerSerProLysAlaLeuGluSerValThrAsnGluAsnAlaIleIleProLeuProThrIleLysTrpLysProLeuIleHisSerProSerArgThrProValLeuValGlySerAspGluPheAspLysCysLeuSerAsnAspLysPheSerHisGluGluTyrSerAsnGlyAlaLeuSerIleLeuGlnTyrProTyrAspAsnGlyTyrTyrLeuProTyrTyrLysArgGluArgAsnLysArgSerThrGlnIleThrValArgPheLeuAspAsnProHisTyrAsnLysAsnIleArgLysLysAspProValLeuLeuLeuHisTrpTrpLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696252", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000303236.9:c.671G>A" }, "RefSeq": { "hgvs": "NM_004836.7:c.671G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000307235.3:p.Trp224Ter" }, "RefSeq": { "hgvs": "NP_004827.4:p.Trp224Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2741853304", "coordinates": [ { "allele": "A", "end": 547, "referenceAllele": "G", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "NM_001313915.2:c.218G>A" ], "proteinEffect": { "hgvs": "NP_001300844.1:p.Trp73Ter", "hgvsWellDefined": "NP_001300844.1:p.Trp73_Asn965delinsAspSerAspGluMetGluGlnGluGluAspIleLeuLeuLeuGlnArgThrGlnLysThrValArgAlaValGlyProArgSerGlyAsnGluLysTrpAsnPheSerValGlyHisPheGluLeuArgTyrIleProAspMetGluThrArgAlaGlyPheIleGluSerThrPheLysProAsnGluAsnThrGluGluSerLysIleIleSerAspValGluGluGlnGluAlaAlaIleMetAspIleValIleLysValSerValAlaAspTrpLysValMetAlaPheSerLysLysGlyGlyHisLeuGluTrpGluTyrGlnPheCysThrProIleAlaSerAlaTrpLeuLeuLysAspGlyLysValIleProIleSerLeuPheAspAspThrSerTyrThrSerAsnAspAspValLeuGluAspGluGluAspIleValGluAlaAlaArgGlyAlaThrGluAsnSerValTyrLeuGlyMetTyrArgGlyGlnLeuTyrLeuGlnSerSerValArgIleSerGluLysPheProSerSerProLysAlaLeuGluSerValThrAsnGluAsnAlaIleIleProLeuProThrIleLysTrpLysProLeuIleHisSerProSerArgThrProValLeuValGlySerAspGluPheAspLysCysLeuSerAsnAspLysPheSerHisGluGluTyrSerAsnGlyAlaLeuSerIleLeuGlnTyrProTyrAspAsnGlyTyrTyrLeuProTyrTyrLysArgGluArgAsnLysArgSerThrGlnIleThrValArgPheLeuAspAsnProHisTyrAsnLysAsnIleArgLysLysAspProValLeuLeuLeuHisTrpTrpLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717329" } ], "type": "nucleotide" }