{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA347593351", "communityStandardTitle": [ "NM_004836.7(EIF2AK3):c.1912C>T (p.Arg638Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2834283[alleleid]", "alleleId": 2834283, "preferredName": "NM_004836.7(EIF2AK3):c.1912C>T (p.Arg638Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2675010", "RCV": [ "RCV003460018", "RCV003553950" ], "variationId": 2675010 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.88876196G>A?assembly=hg19", "id": "chr2:g.88876196G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.88576678G>A?assembly=hg38", "id": "chr2:g.88576678G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/200307027", "rs": 200307027 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-88576678-G-A?dataset=gnomad_r4", "id": "2-88576678-G-A", "variant": "2:88576678 G / A" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 88576678, "referenceAllele": "G", "start": 88576677 } ], "hgvs": [ "NC_000002.12:g.88576678G>A", "CM000664.2:g.88576678G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 88876196, "referenceAllele": "G", "start": 88876195 } ], "hgvs": [ "NC_000002.11:g.88876196G>A", "CM000664.1:g.88876196G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 88657311, "referenceAllele": "G", "start": 88657310 } ], "hgvs": [ "NC_000002.10:g.88657311G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { 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"EIF2AK3", "hgvs": [ "ENST00000682892.1:c.1459C>T" ], "proteinEffect": { "hgvs": "ENSP00000507214.1:p.Arg487Ter", "hgvsWellDefined": "ENSP00000507214.1:p.Arg487_Asn965delinsGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827880" }, { "coordinates": [ { "allele": "T", "end": 1551, "referenceAllele": "C", "start": 1550 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "ENST00000682952.1:n.1551C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827940" }, { "coordinates": [ { "allele": "T", "end": 1125, "referenceAllele": "C", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "ENST00000684455.1:c.1125C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829409" }, { "coordinates": [ { "allele": "T", "end": 1309, "referenceAllele": "C", "start": 1308 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "ENST00000684642.1:c.1309C>T" ], "proteinEffect": { "hgvs": "ENSP00000507355.1:p.Arg437Ter", "hgvsWellDefined": "ENSP00000507355.1:p.Arg437_Asn859delinsGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829593" }, { "coordinates": [ { "allele": "T", "end": 2090, "referenceAllele": "C", "start": 2089 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "ENST00000684740.1:n.2090C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829691" }, { "coordinates": [ { "allele": "T", "end": 2102, "referenceAllele": "C", "start": 2101 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "ENST00000303236.9:c.1912C>T" ], "proteinEffect": { "hgvs": "ENSP00000307235.3:p.Arg638Ter", "hgvsWellDefined": "ENSP00000307235.3:p.Arg638_Asn1116delinsGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745016", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000303236.9:c.1912C>T" }, "RefSeq": { "hgvs": "NM_004836.7:c.1912C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000307235.3:p.Arg638Ter" }, "RefSeq": { "hgvs": "NP_004827.4:p.Arg638Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2106, "referenceAllele": "C", "start": 2105 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "ENST00000652099.1:c.2106C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS772025" }, { "coordinates": [ { "allele": "T", "end": 1788, "referenceAllele": "C", "start": 1787 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "ENST00000652736.1:n.1788C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS772379" }, { "coordinates": [ { "allele": "T", "end": 2214, "referenceAllele": "C", "start": 2213 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "ENST00000303236.7:c.1912C>T" ], "proteinEffect": { "hgvs": "ENSP00000307235.3:p.Arg638Ter", "hgvsWellDefined": "ENSP00000307235.3:p.Arg638_Asn1116delinsGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255294" }, { "coordinates": [ { "allele": "T", "end": 1581, "referenceAllele": "C", "start": 1580 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "ENST00000415570.1:c.1549C>T" ], "proteinEffect": { "hgvs": "ENSP00000412076.1:p.Arg517Ter", "hgvsWellDefined": "ENSP00000412076.1:p.Arg517Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS284052" }, { "coordinates": [ { "allele": "T", "end": 1788, "referenceAllele": "C", "start": 1787 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "ENST00000419748.5:c.1459C>T" ], "proteinEffect": { "hgvs": "ENSP00000408325.1:p.Arg487Ter", "hgvsWellDefined": "ENSP00000408325.1:p.Arg487_Asn965delinsGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS286019" }, { "coordinates": [ { "allele": "T", "end": 478, "referenceAllele": "C", "start": 477 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "ENST00000478003.1:n.478C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS318698" }, { "@id": "http://reg.genome.network/allele/PA2826947361", "coordinates": [ { "allele": "T", "end": 1788, "referenceAllele": "C", "start": 1787 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "NM_001313915.1:c.1459C>T" ], "proteinEffect": { "hgvs": "NP_001300844.1:p.Arg487Ter", "hgvsWellDefined": "NP_001300844.1:p.Arg487_Asn965delinsGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026484" }, { "@id": "http://reg.genome.network/allele/PA2741915011", "coordinates": [ { "allele": "T", "end": 2214, "referenceAllele": "C", "start": 2213 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "NM_004836.5:c.1912C>T" ], "proteinEffect": { "hgvs": "NP_004827.4:p.Arg638Ter", "hgvsWellDefined": "NP_004827.4:p.Arg638_Asn1116delinsGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029981" }, { "@id": "http://reg.genome.network/allele/PA2741915011", "coordinates": [ { "allele": "T", "end": 2214, "referenceAllele": "C", "start": 2213 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "NM_004836.6:c.1912C>T" ], "proteinEffect": { "hgvs": "NP_004827.4:p.Arg638Ter", "hgvsWellDefined": "NP_004827.4:p.Arg638_Asn1116delinsGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029982" }, { "coordinates": [ { "allele": "T", "end": 1420, "referenceAllele": "C", "start": 1419 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "XM_005264649.3:c.1228C>T" ], "proteinEffect": { "hgvs": "XP_005264706.1:p.Arg410Ter", "hgvsWellDefined": "XP_005264706.1:p.Arg410_Asn888delinsGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064329" }, { "coordinates": [ { "allele": "T", "end": 2191, "referenceAllele": "C", "start": 2190 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "XR_939749.1:n.2191C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS134445" }, { "coordinates": [ { "allele": "T", "end": 2106, "referenceAllele": "C", "start": 2105 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "XM_017005376.2:c.1228C>T" ], "proteinEffect": { "hgvs": "XP_016860865.1:p.Arg410Ter", "hgvsWellDefined": "XP_016860865.1:p.Arg410_Asn888delinsGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560655" }, { "@id": "http://reg.genome.network/allele/PA2741915011", "coordinates": [ { "allele": "T", "end": 2102, "referenceAllele": "C", "start": 2101 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "NM_004836.7:c.1912C>T" ], "proteinEffect": { "hgvs": "NP_004827.4:p.Arg638Ter", "hgvsWellDefined": "NP_004827.4:p.Arg638_Asn1116delinsGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696252", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000303236.9:c.1912C>T" }, "RefSeq": { "hgvs": "NM_004836.7:c.1912C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000307235.3:p.Arg638Ter" }, "RefSeq": { "hgvs": "NP_004827.4:p.Arg638Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826947361", "coordinates": [ { "allele": "T", "end": 1788, "referenceAllele": "C", "start": 1787 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "NM_001313915.2:c.1459C>T" ], "proteinEffect": { "hgvs": "NP_001300844.1:p.Arg487Ter", "hgvsWellDefined": "NP_001300844.1:p.Arg487_Asn965delinsGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717329" } ], "type": "nucleotide" }