{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA339733", "communityStandardTitle": [ "NM_004836.7(EIF2AK3):c.1192C>T (p.Gln398Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=204423[alleleid]", "alleleId": 204423, "preferredName": "NM_004836.7(EIF2AK3):c.1192C>T (p.Gln398Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/208168", "RCV": [ "RCV000204196" ], "variationId": 208168 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.88888393G>A?assembly=hg19", "id": "chr2:g.88888393G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.88588875G>A?assembly=hg38", "id": "chr2:g.88588875G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/864621972", "rs": 864621972 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-88588875-G-A?dataset=gnomad_r4", "id": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS255294" }, { "coordinates": [ { "allele": "T", "end": 861, "referenceAllele": "C", "start": 860 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "ENST00000415570.1:c.829C>T" ], "proteinEffect": { "hgvs": "ENSP00000412076.1:p.Gln277Ter", "hgvsWellDefined": "ENSP00000412076.1:p.Gln277Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS284052" }, { "coordinates": [ { "allele": "T", "end": 1068, "referenceAllele": "C", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "ENST00000419748.5:c.739C>T" ], "proteinEffect": { "hgvs": "ENSP00000408325.1:p.Gln247Ter", "hgvsWellDefined": "ENSP00000408325.1:p.Gln247_Asn965delinsSerSerValArgIleSerGluLysPheProSerSerProLysAlaLeuGluSerValThrAsnGluAsnAlaIleIleProLeuProThrIleLysTrpLysProLeuIleHisSerProSerArgThrProValLeuValGlySerAspGluPheAspLysCysLeuSerAsnAspLysPheSerHisGluGluTyrSerAsnGlyAlaLeuSerIleLeuGlnTyrProTyrAspAsnGlyTyrTyrLeuProTyrTyrLysArgGluArgAsnLysArgSerThrGlnIleThrValArgPheLeuAspAsnProHisTyrAsnLysAsnIleArgLysLysAspProValLeuLeuLeuHisTrpTrpLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS286019" }, { "@id": "http://reg.genome.network/allele/PA2826947252", "coordinates": [ { "allele": "T", "end": 1068, "referenceAllele": "C", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "NM_001313915.1:c.739C>T" ], "proteinEffect": { "hgvs": "NP_001300844.1:p.Gln247Ter", "hgvsWellDefined": "NP_001300844.1:p.Gln247_Asn965delinsSerSerValArgIleSerGluLysPheProSerSerProLysAlaLeuGluSerValThrAsnGluAsnAlaIleIleProLeuProThrIleLysTrpLysProLeuIleHisSerProSerArgThrProValLeuValGlySerAspGluPheAspLysCysLeuSerAsnAspLysPheSerHisGluGluTyrSerAsnGlyAlaLeuSerIleLeuGlnTyrProTyrAspAsnGlyTyrTyrLeuProTyrTyrLysArgGluArgAsnLysArgSerThrGlnIleThrValArgPheLeuAspAsnProHisTyrAsnLysAsnIleArgLysLysAspProValLeuLeuLeuHisTrpTrpLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026484" }, { "@id": "http://reg.genome.network/allele/PA339734", "coordinates": [ { "allele": "T", "end": 1494, "referenceAllele": "C", "start": 1493 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "NM_004836.5:c.1192C>T" ], "proteinEffect": { "hgvs": "NP_004827.4:p.Gln398Ter", "hgvsWellDefined": "NP_004827.4:p.Gln398_Asn1116delinsSerSerValArgIleSerGluLysPheProSerSerProLysAlaLeuGluSerValThrAsnGluAsnAlaIleIleProLeuProThrIleLysTrpLysProLeuIleHisSerProSerArgThrProValLeuValGlySerAspGluPheAspLysCysLeuSerAsnAspLysPheSerHisGluGluTyrSerAsnGlyAlaLeuSerIleLeuGlnTyrProTyrAspAsnGlyTyrTyrLeuProTyrTyrLysArgGluArgAsnLysArgSerThrGlnIleThrValArgPheLeuAspAsnProHisTyrAsnLysAsnIleArgLysLysAspProValLeuLeuLeuHisTrpTrpLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029981" }, { "@id": "http://reg.genome.network/allele/PA339734", "coordinates": [ { "allele": "T", "end": 1494, "referenceAllele": "C", "start": 1493 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "NM_004836.6:c.1192C>T" ], "proteinEffect": { "hgvs": "NP_004827.4:p.Gln398Ter", "hgvsWellDefined": "NP_004827.4:p.Gln398_Asn1116delinsSerSerValArgIleSerGluLysPheProSerSerProLysAlaLeuGluSerValThrAsnGluAsnAlaIleIleProLeuProThrIleLysTrpLysProLeuIleHisSerProSerArgThrProValLeuValGlySerAspGluPheAspLysCysLeuSerAsnAspLysPheSerHisGluGluTyrSerAsnGlyAlaLeuSerIleLeuGlnTyrProTyrAspAsnGlyTyrTyrLeuProTyrTyrLysArgGluArgAsnLysArgSerThrGlnIleThrValArgPheLeuAspAsnProHisTyrAsnLysAsnIleArgLysLysAspProValLeuLeuLeuHisTrpTrpLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029982" }, { "coordinates": [ { "allele": "T", "end": 700, "referenceAllele": "C", "start": 699 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "XM_005264649.3:c.508C>T" ], "proteinEffect": { "hgvs": "XP_005264706.1:p.Gln170Ter", "hgvsWellDefined": "XP_005264706.1:p.Gln170_Asn888delinsSerSerValArgIleSerGluLysPheProSerSerProLysAlaLeuGluSerValThrAsnGluAsnAlaIleIleProLeuProThrIleLysTrpLysProLeuIleHisSerProSerArgThrProValLeuValGlySerAspGluPheAspLysCysLeuSerAsnAspLysPheSerHisGluGluTyrSerAsnGlyAlaLeuSerIleLeuGlnTyrProTyrAspAsnGlyTyrTyrLeuProTyrTyrLysArgGluArgAsnLysArgSerThrGlnIleThrValArgPheLeuAspAsnProHisTyrAsnLysAsnIleArgLysLysAspProValLeuLeuLeuHisTrpTrpLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064329" }, { "coordinates": [ { "allele": "T", "end": 1401, "referenceAllele": "C", "start": 1400 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "XR_939749.1:n.1401C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS134445" }, { "coordinates": [ { "allele": "T", "end": 1386, "referenceAllele": "C", "start": 1385 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "XM_017005376.2:c.508C>T" ], "proteinEffect": { "hgvs": "XP_016860865.1:p.Gln170Ter", "hgvsWellDefined": "XP_016860865.1:p.Gln170_Asn888delinsSerSerValArgIleSerGluLysPheProSerSerProLysAlaLeuGluSerValThrAsnGluAsnAlaIleIleProLeuProThrIleLysTrpLysProLeuIleHisSerProSerArgThrProValLeuValGlySerAspGluPheAspLysCysLeuSerAsnAspLysPheSerHisGluGluTyrSerAsnGlyAlaLeuSerIleLeuGlnTyrProTyrAspAsnGlyTyrTyrLeuProTyrTyrLysArgGluArgAsnLysArgSerThrGlnIleThrValArgPheLeuAspAsnProHisTyrAsnLysAsnIleArgLysLysAspProValLeuLeuLeuHisTrpTrpLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560655" }, { "@id": "http://reg.genome.network/allele/PA339734", "coordinates": [ { "allele": "T", "end": 1382, "referenceAllele": "C", "start": 1381 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "NM_004836.7:c.1192C>T" ], "proteinEffect": { "hgvs": "NP_004827.4:p.Gln398Ter", "hgvsWellDefined": "NP_004827.4:p.Gln398_Asn1116delinsSerSerValArgIleSerGluLysPheProSerSerProLysAlaLeuGluSerValThrAsnGluAsnAlaIleIleProLeuProThrIleLysTrpLysProLeuIleHisSerProSerArgThrProValLeuValGlySerAspGluPheAspLysCysLeuSerAsnAspLysPheSerHisGluGluTyrSerAsnGlyAlaLeuSerIleLeuGlnTyrProTyrAspAsnGlyTyrTyrLeuProTyrTyrLysArgGluArgAsnLysArgSerThrGlnIleThrValArgPheLeuAspAsnProHisTyrAsnLysAsnIleArgLysLysAspProValLeuLeuLeuHisTrpTrpLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696252", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000303236.9:c.1192C>T" }, "RefSeq": { "hgvs": "NM_004836.7:c.1192C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000307235.3:p.Gln398Ter" }, "RefSeq": { "hgvs": "NP_004827.4:p.Gln398Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826947252", "coordinates": [ { "allele": "T", "end": 1068, "referenceAllele": "C", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "NM_001313915.2:c.739C>T" ], "proteinEffect": { "hgvs": "NP_001300844.1:p.Gln247Ter", "hgvsWellDefined": "NP_001300844.1:p.Gln247_Asn965delinsSerSerValArgIleSerGluLysPheProSerSerProLysAlaLeuGluSerValThrAsnGluAsnAlaIleIleProLeuProThrIleLysTrpLysProLeuIleHisSerProSerArgThrProValLeuValGlySerAspGluPheAspLysCysLeuSerAsnAspLysPheSerHisGluGluTyrSerAsnGlyAlaLeuSerIleLeuGlnTyrProTyrAspAsnGlyTyrTyrLeuProTyrTyrLysArgGluArgAsnLysArgSerThrGlnIleThrValArgPheLeuAspAsnProHisTyrAsnLysAsnIleArgLysLysAspProValLeuLeuLeuHisTrpTrpLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717329" } ], "type": "nucleotide" }