{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA117826", "communityStandardTitle": [ "NM_004836.7(EIF2AK3):c.994G>T (p.Glu332Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20917[alleleid]", "alleleId": 20917, "preferredName": "NM_004836.7(EIF2AK3):c.994G>T (p.Glu332Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5878", "RCV": [ "RCV000006236" ], "variationId": 5878 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.88890344C>A?assembly=hg19", "id": "chr2:g.88890344C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.88590826C>A?assembly=hg38", "id": "chr2:g.88590826C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121908570", "rs": 121908570 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-88590826-C-A?dataset=gnomad_r4", "id": "2-88590826-C-A", "variant": "2:88590826 C / A" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 88590826, "referenceAllele": "C", "start": 88590825 } ], "hgvs": [ "NC_000002.12:g.88590826C>A", "CM000664.2:g.88590826C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 88890344, "referenceAllele": "C", "start": 88890343 } ], "hgvs": [ "NC_000002.11:g.88890344C>A", "CM000664.1:g.88890344C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 88671459, "referenceAllele": "C", "start": 88671458 } ], "hgvs": [ "NC_000002.10:g.88671459C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 41751, "referenceAllele": "G", "start": 41750 } ], "hgvs": [ "NG_016424.1:g.41751G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003178" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2185, "referenceAllele": "G", "start": 2184 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "ENST00000681996.1:n.2185G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS826995" }, { "coordinates": [ { "allele": "T", "end": 449, "referenceAllele": "G", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "ENST00000682276.1:n.449G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827271" }, { "coordinates": [ { "allele": "T", "end": 1572, "referenceAllele": "G", "start": 1571 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "ENST00000682892.1:c.541G>T" ], "proteinEffect": { "hgvs": 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"ENSP00000307235.3:p.Glu332_Asn1116delinsTyrGlnPheCysThrProIleAlaSerAlaTrpLeuLeuLysAspGlyLysValIleProIleSerLeuPheAspAspThrSerTyrThrSerAsnAspAspValLeuGluAspGluGluAspIleValGluAlaAlaArgGlyAlaThrGluAsnSerValTyrLeuGlyMetTyrArgGlyGlnLeuTyrLeuGlnSerSerValArgIleSerGluLysPheProSerSerProLysAlaLeuGluSerValThrAsnGluAsnAlaIleIleProLeuProThrIleLysTrpLysProLeuIleHisSerProSerArgThrProValLeuValGlySerAspGluPheAspLysCysLeuSerAsnAspLysPheSerHisGluGluTyrSerAsnGlyAlaLeuSerIleLeuGlnTyrProTyrAspAsnGlyTyrTyrLeuProTyrTyrLysArgGluArgAsnLysArgSerThrGlnIleThrValArgPheLeuAspAsnProHisTyrAsnLysAsnIleArgLysLysAspProValLeuLeuLeuHisTrpTrpLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255294" }, { "coordinates": [ { "allele": "T", "end": 663, "referenceAllele": "G", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "ENST00000415570.1:c.631G>T" ], "proteinEffect": { "hgvs": "ENSP00000412076.1:p.Glu211Ter", "hgvsWellDefined": "ENSP00000412076.1:p.Glu211Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS284052" }, { "coordinates": [ { "allele": "T", "end": 870, "referenceAllele": "G", "start": 869 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "ENST00000419748.5:c.541G>T" ], "proteinEffect": { "hgvs": "ENSP00000408325.1:p.Glu181Ter", "hgvsWellDefined": "ENSP00000408325.1:p.Glu181_Asn965delinsTyrGlnPheCysThrProIleAlaSerAlaTrpLeuLeuLysAspGlyLysValIleProIleSerLeuPheAspAspThrSerTyrThrSerAsnAspAspValLeuGluAspGluGluAspIleValGluAlaAlaArgGlyAlaThrGluAsnSerValTyrLeuGlyMetTyrArgGlyGlnLeuTyrLeuGlnSerSerValArgIleSerGluLysPheProSerSerProLysAlaLeuGluSerValThrAsnGluAsnAlaIleIleProLeuProThrIleLysTrpLysProLeuIleHisSerProSerArgThrProValLeuValGlySerAspGluPheAspLysCysLeuSerAsnAspLysPheSerHisGluGluTyrSerAsnGlyAlaLeuSerIleLeuGlnTyrProTyrAspAsnGlyTyrTyrLeuProTyrTyrLysArgGluArgAsnLysArgSerThrGlnIleThrValArgPheLeuAspAsnProHisTyrAsnLysAsnIleArgLysLysAspProValLeuLeuLeuHisTrpTrpLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS286019" }, { "coordinates": [ { "allele": "T", "end": 527, "referenceAllele": "G", "start": 526 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "ENST00000477083.1:n.527G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS317981" }, { "@id": "http://reg.genome.network/allele/PA2826947217", "coordinates": [ { "allele": "T", "end": 870, "referenceAllele": "G", "start": 869 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "NM_001313915.1:c.541G>T" ], "proteinEffect": { "hgvs": "NP_001300844.1:p.Glu181Ter", "hgvsWellDefined": "NP_001300844.1:p.Glu181_Asn965delinsTyrGlnPheCysThrProIleAlaSerAlaTrpLeuLeuLysAspGlyLysValIleProIleSerLeuPheAspAspThrSerTyrThrSerAsnAspAspValLeuGluAspGluGluAspIleValGluAlaAlaArgGlyAlaThrGluAsnSerValTyrLeuGlyMetTyrArgGlyGlnLeuTyrLeuGlnSerSerValArgIleSerGluLysPheProSerSerProLysAlaLeuGluSerValThrAsnGluAsnAlaIleIleProLeuProThrIleLysTrpLysProLeuIleHisSerProSerArgThrProValLeuValGlySerAspGluPheAspLysCysLeuSerAsnAspLysPheSerHisGluGluTyrSerAsnGlyAlaLeuSerIleLeuGlnTyrProTyrAspAsnGlyTyrTyrLeuProTyrTyrLysArgGluArgAsnLysArgSerThrGlnIleThrValArgPheLeuAspAsnProHisTyrAsnLysAsnIleArgLysLysAspProValLeuLeuLeuHisTrpTrpLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026484" }, { "@id": "http://reg.genome.network/allele/PA117827", "coordinates": [ { "allele": "T", "end": 1296, "referenceAllele": "G", "start": 1295 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "NM_004836.5:c.994G>T" ], "proteinEffect": { "hgvs": "NP_004827.4:p.Glu332Ter", "hgvsWellDefined": "NP_004827.4:p.Glu332_Asn1116delinsTyrGlnPheCysThrProIleAlaSerAlaTrpLeuLeuLysAspGlyLysValIleProIleSerLeuPheAspAspThrSerTyrThrSerAsnAspAspValLeuGluAspGluGluAspIleValGluAlaAlaArgGlyAlaThrGluAsnSerValTyrLeuGlyMetTyrArgGlyGlnLeuTyrLeuGlnSerSerValArgIleSerGluLysPheProSerSerProLysAlaLeuGluSerValThrAsnGluAsnAlaIleIleProLeuProThrIleLysTrpLysProLeuIleHisSerProSerArgThrProValLeuValGlySerAspGluPheAspLysCysLeuSerAsnAspLysPheSerHisGluGluTyrSerAsnGlyAlaLeuSerIleLeuGlnTyrProTyrAspAsnGlyTyrTyrLeuProTyrTyrLysArgGluArgAsnLysArgSerThrGlnIleThrValArgPheLeuAspAsnProHisTyrAsnLysAsnIleArgLysLysAspProValLeuLeuLeuHisTrpTrpLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029981" }, { "@id": "http://reg.genome.network/allele/PA117827", "coordinates": [ { "allele": "T", "end": 1296, "referenceAllele": "G", "start": 1295 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "NM_004836.6:c.994G>T" ], "proteinEffect": { "hgvs": "NP_004827.4:p.Glu332Ter", "hgvsWellDefined": "NP_004827.4:p.Glu332_Asn1116delinsTyrGlnPheCysThrProIleAlaSerAlaTrpLeuLeuLysAspGlyLysValIleProIleSerLeuPheAspAspThrSerTyrThrSerAsnAspAspValLeuGluAspGluGluAspIleValGluAlaAlaArgGlyAlaThrGluAsnSerValTyrLeuGlyMetTyrArgGlyGlnLeuTyrLeuGlnSerSerValArgIleSerGluLysPheProSerSerProLysAlaLeuGluSerValThrAsnGluAsnAlaIleIleProLeuProThrIleLysTrpLysProLeuIleHisSerProSerArgThrProValLeuValGlySerAspGluPheAspLysCysLeuSerAsnAspLysPheSerHisGluGluTyrSerAsnGlyAlaLeuSerIleLeuGlnTyrProTyrAspAsnGlyTyrTyrLeuProTyrTyrLysArgGluArgAsnLysArgSerThrGlnIleThrValArgPheLeuAspAsnProHisTyrAsnLysAsnIleArgLysLysAspProValLeuLeuLeuHisTrpTrpLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029982" }, { "coordinates": [ { "allele": "T", "end": 502, "referenceAllele": "G", "start": 501 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "XM_005264649.3:c.310G>T" ], "proteinEffect": { "hgvs": "XP_005264706.1:p.Glu104Ter", "hgvsWellDefined": "XP_005264706.1:p.Glu104_Asn888delinsTyrGlnPheCysThrProIleAlaSerAlaTrpLeuLeuLysAspGlyLysValIleProIleSerLeuPheAspAspThrSerTyrThrSerAsnAspAspValLeuGluAspGluGluAspIleValGluAlaAlaArgGlyAlaThrGluAsnSerValTyrLeuGlyMetTyrArgGlyGlnLeuTyrLeuGlnSerSerValArgIleSerGluLysPheProSerSerProLysAlaLeuGluSerValThrAsnGluAsnAlaIleIleProLeuProThrIleLysTrpLysProLeuIleHisSerProSerArgThrProValLeuValGlySerAspGluPheAspLysCysLeuSerAsnAspLysPheSerHisGluGluTyrSerAsnGlyAlaLeuSerIleLeuGlnTyrProTyrAspAsnGlyTyrTyrLeuProTyrTyrLysArgGluArgAsnLysArgSerThrGlnIleThrValArgPheLeuAspAsnProHisTyrAsnLysAsnIleArgLysLysAspProValLeuLeuLeuHisTrpTrpLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064329" }, { "coordinates": [ { "allele": "T", "end": 1203, "referenceAllele": "G", "start": 1202 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "XR_939749.1:n.1203G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS134445" }, { "coordinates": [ { "allele": "T", "end": 1188, "referenceAllele": "G", "start": 1187 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "XM_017005376.2:c.310G>T" ], "proteinEffect": { "hgvs": "XP_016860865.1:p.Glu104Ter", "hgvsWellDefined": "XP_016860865.1:p.Glu104_Asn888delinsTyrGlnPheCysThrProIleAlaSerAlaTrpLeuLeuLysAspGlyLysValIleProIleSerLeuPheAspAspThrSerTyrThrSerAsnAspAspValLeuGluAspGluGluAspIleValGluAlaAlaArgGlyAlaThrGluAsnSerValTyrLeuGlyMetTyrArgGlyGlnLeuTyrLeuGlnSerSerValArgIleSerGluLysPheProSerSerProLysAlaLeuGluSerValThrAsnGluAsnAlaIleIleProLeuProThrIleLysTrpLysProLeuIleHisSerProSerArgThrProValLeuValGlySerAspGluPheAspLysCysLeuSerAsnAspLysPheSerHisGluGluTyrSerAsnGlyAlaLeuSerIleLeuGlnTyrProTyrAspAsnGlyTyrTyrLeuProTyrTyrLysArgGluArgAsnLysArgSerThrGlnIleThrValArgPheLeuAspAsnProHisTyrAsnLysAsnIleArgLysLysAspProValLeuLeuLeuHisTrpTrpLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560655" }, { "@id": "http://reg.genome.network/allele/PA117827", "coordinates": [ { "allele": "T", "end": 1184, "referenceAllele": "G", "start": 1183 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "NM_004836.7:c.994G>T" ], "proteinEffect": { "hgvs": "NP_004827.4:p.Glu332Ter", "hgvsWellDefined": "NP_004827.4:p.Glu332_Asn1116delinsTyrGlnPheCysThrProIleAlaSerAlaTrpLeuLeuLysAspGlyLysValIleProIleSerLeuPheAspAspThrSerTyrThrSerAsnAspAspValLeuGluAspGluGluAspIleValGluAlaAlaArgGlyAlaThrGluAsnSerValTyrLeuGlyMetTyrArgGlyGlnLeuTyrLeuGlnSerSerValArgIleSerGluLysPheProSerSerProLysAlaLeuGluSerValThrAsnGluAsnAlaIleIleProLeuProThrIleLysTrpLysProLeuIleHisSerProSerArgThrProValLeuValGlySerAspGluPheAspLysCysLeuSerAsnAspLysPheSerHisGluGluTyrSerAsnGlyAlaLeuSerIleLeuGlnTyrProTyrAspAsnGlyTyrTyrLeuProTyrTyrLysArgGluArgAsnLysArgSerThrGlnIleThrValArgPheLeuAspAsnProHisTyrAsnLysAsnIleArgLysLysAspProValLeuLeuLeuHisTrpTrpLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696252", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000303236.9:c.994G>T" }, "RefSeq": { "hgvs": "NM_004836.7:c.994G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000307235.3:p.Glu332Ter" }, "RefSeq": { "hgvs": "NP_004827.4:p.Glu332Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826947217", "coordinates": [ { "allele": "T", "end": 870, "referenceAllele": "G", "start": 869 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "NM_001313915.2:c.541G>T" ], "proteinEffect": { "hgvs": "NP_001300844.1:p.Glu181Ter", "hgvsWellDefined": "NP_001300844.1:p.Glu181_Asn965delinsTyrGlnPheCysThrProIleAlaSerAlaTrpLeuLeuLysAspGlyLysValIleProIleSerLeuPheAspAspThrSerTyrThrSerAsnAspAspValLeuGluAspGluGluAspIleValGluAlaAlaArgGlyAlaThrGluAsnSerValTyrLeuGlyMetTyrArgGlyGlnLeuTyrLeuGlnSerSerValArgIleSerGluLysPheProSerSerProLysAlaLeuGluSerValThrAsnGluAsnAlaIleIleProLeuProThrIleLysTrpLysProLeuIleHisSerProSerArgThrProValLeuValGlySerAspGluPheAspLysCysLeuSerAsnAspLysPheSerHisGluGluTyrSerAsnGlyAlaLeuSerIleLeuGlnTyrProTyrAspAsnGlyTyrTyrLeuProTyrTyrLysArgGluArgAsnLysArgSerThrGlnIleThrValArgPheLeuAspAsnProHisTyrAsnLysAsnIleArgLysLysAspProValLeuLeuLeuHisTrpTrpLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717329" } ], "type": "nucleotide" }