{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA6205929", "communityStandardTitle": [ "NM_024678.6(NARS2):c.160C>T (p.Arg54Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2037025[alleleid]", "alleleId": 2037025, "preferredName": "NM_024678.6(NARS2):c.160C>T (p.Arg54Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1988177", "RCV": [ "RCV002781167" ], "variationId": 1988177 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/11-78282471-G-A", "id": "11-78282471-G-A", "variant": "11:78282471 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.78282471G>A?assembly=hg19", "id": "chr11:g.78282471G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.78571426G>A?assembly=hg38", "id": "chr11:g.78571426G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/751315158", "rs": 751315158 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-78282471-G-A?dataset=gnomad_r2_1", "id": "11-78282471-G-A", "variant": "11:78282471 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-78571426-G-A?dataset=gnomad_r3", "id": "11-78571426-G-A", "variant": "11:78571426 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-78571426-G-A?dataset=gnomad_r4", "id": "11-78571426-G-A", "variant": "11:78571426 G / A" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 78571426, "referenceAllele": "G", "start": 78571425 } ], "hgvs": [ "NC_000011.10:g.78571426G>A", "CM000673.2:g.78571426G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 78282471, "referenceAllele": "G", "start": 78282470 } ], "hgvs": [ "NC_000011.9:g.78282471G>A", "CM000673.1:g.78282471G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 77960119, "referenceAllele": "G", "start": 77960118 } ], "hgvs": [ "NC_000011.8:g.77960119G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 8439, "referenceAllele": "C", "start": 8438 } ], "hgvs": [ "NG_042046.1:g.8439C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005905" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 65, "referenceAllele": "C", "start": 64 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "ENST00000529771.2:c.-522C>T" ], "proteinEffect": { "hgvs": "ENSP00000435298.2:n.-522C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS905698" }, { "coordinates": [ { "allele": "T", "end": 462, "referenceAllele": "C", "start": 461 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "ENST00000695114.1:n.462C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS906829" }, { "coordinates": [ { "allele": "T", "end": 58, "referenceAllele": "C", "start": 57 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "ENST00000695115.1:c.-614C>T" ], "proteinEffect": { "hgvs": "ENSP00000511705.1:n.-614C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS906830" }, { "coordinates": [ { "allele": "T", "end": 385, "referenceAllele": "C", "start": 384 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "ENST00000695116.1:c.-522C>T" ], "proteinEffect": { "hgvs": "ENSP00000511706.1:n.-522C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS906831" }, { "coordinates": [ { "allele": "T", "end": 55, "referenceAllele": "C", "start": 54 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "ENST00000695117.1:n.55C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS906832" }, { "coordinates": [ { "allele": "T", "end": 647, "referenceAllele": "C", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "ENST00000695341.1:c.278C>T" ], "proteinEffect": { "hgvs": "ENSP00000511816.1:p.Pro93Leu", "hgvsWellDefined": "ENSP00000511816.1:p.Pro93Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS906876" }, { "coordinates": [ { "allele": "T", "end": 72, "referenceAllele": "C", "start": 71 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "ENST00000695342.1:c.-522C>T" ], "proteinEffect": { "hgvs": "ENSP00000511817.1:n.-522C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS906877" }, { "coordinates": [ { "allele": "T", "end": 308, "referenceAllele": "C", "start": 307 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "ENST00000695343.1:c.-522C>T" ], "proteinEffect": { "hgvs": "ENSP00000511818.1:n.-522C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS906878" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "ENST00000695344.1:c.160C>T" ], "proteinEffect": { "hgvs": "ENSP00000511819.1:p.Arg54Ter", "hgvsWellDefined": "ENSP00000511819.1:p.Arg54_Leu441delinsSerGlnLysGluValLeuPheLeuHisValAsnAspGlySerSerLeuGluSerLeuGlnValValAlaAspSerGlyLeuAspSerArgGluLeuAsnPheGlySerSerValGluValGlnGlyGlnLeuIleLysSerProSerLysArgGlnAsnValGluLeuLysAlaGluLysIleLysValIleGlyAsnCysAspAlaLysAspPheProIleLysTyrLysGluArgHisProLeuGluTyrLeuArgGlnTyrProHisPheArgCysArgThrAsnValLeuGlySerIleLeuArgIleArgSerGluAlaThrAlaAlaIleHisSerPhePheLysProSerGlyLysLeuLysValProGluGluAsnPhePheAsnValProAlaPheLeuThrValSerGlyGlnLeuHisLeuGluValMetSerGlyAlaPheThrGlnValPheThrPheGlyProThrPheArgAlaGluAsnSerGlnSerArgArgHisLeuAlaGluPheTyrMetIleGluAlaGluIleSerPheValAspSerLeuGlnAspLeuMetGlnValIleGluGluLeuPheLysAlaThrThrMetMetValLeuSerLysCysProGluAspValGluLeuCysHisLysPheIleAlaProGlyGlnLysAspArgLeuGluHisMetLeuLysAsnAsnPheLeuIleIleSerTyrThrGluAlaValGluIleLeuLysGlnAlaSerGlnAsnPheThrPheThrProGluTrpGlyAlaAspLeuArgThrGluHisGluLysTyrLeuValLysHisCysGlyAsnIleProValPheValIleAsnTyrProLeuThrLeuLysProPheTyrMetArgAspAsnGluAspGlyProGlnHisThrValAlaAlaValAspLeuLeuValProGlyValGlyGluLeuPheGlyGlyGlyLeuArgGluGluArgTyrHisPheLeuGluGluArgLeuAlaArgTyrLeuAspLeuArgArgPheGlySerValProHisGlyGlyPheGlyMetGlyPheGluArgTyrLeuGlnCysIleLeuGlyValAspAsnIleLysAspValIleProPheProArgPheProHisSerCysLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906879" }, { "coordinates": [ { "allele": "T", "end": 55, "referenceAllele": "C", "start": 54 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "ENST00000695345.1:c.-522C>T" ], "proteinEffect": { "hgvs": "ENSP00000511820.1:n.-522C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS906880" }, { "coordinates": [ { "allele": "T", "end": 450, "referenceAllele": "C", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "ENST00000695346.1:c.160C>T" ], "proteinEffect": { "hgvs": "ENSP00000511821.1:p.Arg54Ter", "hgvsWellDefined": "ENSP00000511821.1:p.Arg54_Phe222delinsSerGlnLysGluValLeuPheLeuHisValAsnAspGlySerSerLeuGluSerLeuGlnValValAlaAspSerGlyLeuAspSerArgGluLeuAsnPheGlySerSerValGluValGlnGlyGlnLeuIleLysSerProSerLysArgGlnAsnValGluLeuLysAlaGluLysIleLysValIleGlyAsnCysAspAlaLysAspPheProIleLysTyrLysGluArgHisProLeuGluTyrLeuArgGlnTyrProHisPheArgCysArgThrAsnValLeuGlySerIleLeuArgIleArgSerGluAlaThrAlaAlaIleHisSerPhePheLysAspSerGlyPheValHisIleHisThrProIleIleThrSerAsnAspSerGluGlyAlaGlyGluLeuPheGlnLeuGluValLysAlaLysGlyThrSerLeuCysTrpLeuLysLeuPheSerLeuValMetTrpLeuLeuLeuLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906881" }, { "coordinates": [ { "allele": "T", "end": 450, "referenceAllele": "C", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "ENST00000695347.1:c.160C>T" ], "proteinEffect": { "hgvs": "ENSP00000511822.1:p.Arg54Ter", "hgvsWellDefined": "ENSP00000511822.1:p.Arg54_Lys199delinsSerGlnLysGluValLeuPheLeuHisValAsnAspGlySerSerLeuGluSerLeuGlnValValAlaAspSerGlyLeuAspSerArgGluLeuAsnPheGlySerSerValGluValGlnGlyGlnLeuIleLysSerProSerLysArgGlnAsnValGluLeuLysAlaGluLysIleLysValIleGlyAsnCysAspAlaLysAspPheProIleLysTyrLysGluArgHisProLeuGluTyrLeuArgGlnTyrProHisPheArgCysArgThrAsnValLeuGlySerIleLeuArgIleArgSerGluAlaThrAlaAlaIleHisSerPhePheLysAspSerGlyPheValHisIleHisThrProIleIleThrSerAsnAspSerGluGlyAlaGlyGluLeuPheGlnLeuGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906882" }, { "coordinates": [ { "allele": "T", "end": 48, "referenceAllele": "C", "start": 47 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "ENST00000695348.1:c.-441C>T" ], "proteinEffect": { "hgvs": "ENSP00000511823.1:n.-441C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS906883" }, { "coordinates": [ { "allele": "T", "end": 450, "referenceAllele": "C", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "ENST00000695349.1:c.160C>T" ], "proteinEffect": { "hgvs": "ENSP00000511824.1:p.Arg54Ter", "hgvsWellDefined": "ENSP00000511824.1:p.Arg54_Ser489delinsSerGlnLysGluValLeuPheLeuHisValAsnAspGlySerSerLeuGluSerLeuGlnValValAlaAspSerGlyLeuAspSerArgGluLeuAsnPheGlySerSerValGluValGlnGlyGlnLeuIleLysSerProSerLysArgGlnAsnValGluLeuLysAlaGluLysIleLysValIleGlyAsnCysAspAlaLysAspPheProIleLysTyrLysGluArgHisProLeuGluTyrLeuArgGlnTyrProHisPheArgCysArgThrAsnValLeuGlySerIleLeuArgIleArgSerGluAlaThrAlaAlaIleHisSerPhePheLysAspSerGlyPheValHisIleHisThrProIleIleThrSerAsnAspSerGluGlyAlaGlyGluLeuPheGlnLeuGluProSerGlyLysLeuLysValProGluGluAsnPhePheAsnValProAlaPheLeuThrValSerGlyGlnLeuHisLeuGluValMetSerGlyAlaPheThrGlnValPheThrPheGlyProThrPheArgAlaGluAsnSerGlnSerArgArgHisLeuAlaGluPheTyrMetIleGluAlaGluIleSerPheValAspSerLeuGlnAspLeuMetGlnValIleGluGluLeuPheLysAlaThrThrMetMetValLeuSerLysCysProGluAspValGluLeuCysHisLysPheIleAlaProGlyGlnLysAspArgLeuGluHisMetLeuLysAsnAsnPheLeuIleIleSerTyrThrGluAlaValGluIleLeuLysGlnAlaSerGlnAsnPheThrPheThrProGluTrpGlyAlaAspLeuArgThrGluHisGluLysTyrLeuValLysHisCysGlyAsnIleProValPheValIleAsnTyrProLeuThrLeuLysProPheTyrMetArgAspAsnGluAspGlyProGlnHisThrValAlaAlaValAspLeuLeuValProGlyValGlyGluLeuPheGlyGlyGlyLeuArgGluGluArgTyrHisPheLeuGluGluArgLeuAlaArgTrpSerLeuThrLeuLeuSerArgLeuAlaCysSerGlyMetIleLeuValHisCysAsnPheCysLeuLeuGlySerSerAsnProSerThrSerAlaSerArgValAlaGlyThrThrGlyThrHisHisHisThrGlnLeuIlePheValPheLeuValGluMetGlyPheHisHisValGlyGlnAlaCysLeuGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906884" }, { "coordinates": [ { "allele": "T", "end": 488, "referenceAllele": "C", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "ENST00000695350.1:c.160C>T" ], "proteinEffect": { "hgvs": "ENSP00000511825.1:p.Arg54Ter", "hgvsWellDefined": "ENSP00000511825.1:p.Arg54_Leu204delinsSerGlnLysGluValLeuPheLeuHisValAsnAspGlySerSerLeuGluSerLeuGlnValValAlaAspSerGlyLeuAspSerArgGluLeuAsnPheGlySerSerValGluValGlnGlyGlnLeuIleLysSerProSerLysArgGlnAsnValGluLeuLysAlaGluLysIleLysValIleGlyAsnCysAspAlaLysAspPheProIleLysTyrLysGluArgHisProLeuGluTyrLeuArgGlnTyrProHisPheArgCysArgThrAsnValLeuGlySerIleLeuArgIleArgSerGluAlaThrAlaAlaIleHisSerPhePheLysProSerGlyLysLeuLysValProGluGluAsnPhePheAsnValProAlaPheLeuThrValSerGlyGlnLeuHisLeuGluValMetSerGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906885" }, { "coordinates": [ { "allele": "T", "end": 509, "referenceAllele": "C", "start": 508 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "ENST00000695351.1:c.160C>T" ], "proteinEffect": { "hgvs": "ENSP00000511826.1:p.Arg54Ter", "hgvsWellDefined": "ENSP00000511826.1:p.Arg54_Leu409delinsSerGlnLysGluValLeuPheLeuHisValAsnAspGlySerSerLeuGluSerLeuGlnValValAlaAspSerGlyLeuAspSerArgGluLeuAsnPheGlySerSerValGluValGlnGlyGlnLeuIleLysSerProSerLysArgGlnAsnValGluLeuLysAlaGluLysIleLysValIleGlyAsnCysAspAlaLysAspPheProIleLysTyrLysGluArgHisProLeuGluTyrLeuArgGlnTyrProHisPheArgCysArgThrAsnValLeuGlySerIleLeuArgIleArgSerGluAlaThrAlaAlaIleHisSerPhePheLysAspSerGlyPheValHisIleHisThrProIleIleThrSerAsnAspSerGluGlyAlaGlyGluLeuPheGlnLeuGluProSerGlyLysLeuLysValProGluGluAsnPhePheAsnValProAlaPheLeuThrValSerGlyGlnLeuHisLeuGluValMetSerGlyAlaPheThrGlnValPheThrPheGlyProThrPheArgAlaGluAsnSerGlnSerArgArgHisLeuAlaGluPheTyrMetIleGluAlaGluIleSerPheValAspSerLeuGlnAspLeuMetGlnTrpGlyAlaAspLeuArgThrGluHisGluLysTyrLeuValLysHisCysGlyAsnIleProValPheValIleAsnTyrProLeuThrLeuLysProPheTyrMetArgAspAsnGluAspGlyProGlnHisThrValAlaAlaValAspLeuLeuValProGlyValGlyGluLeuPheGlyGlyGlyLeuArgGluGluArgTyrHisPheLeuGluGluArgLeuAlaArgSerGlyLeuThrGluValTyrGlnTrpTyrLeuAspLeuArgArgPheGlySerValProHisGlyGlyPheGlyMetGlyPheGluArgTyrLeuGlnCysIleLeuGlyValAspAsnIleLysAspValIleProPheProArgPheProHisSerCysLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906886" }, { "coordinates": [ { "allele": "T", "end": 55, "referenceAllele": "C", "start": 54 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "ENST00000695352.1:c.-560C>T" ], "proteinEffect": { "hgvs": "ENSP00000511827.1:n.-560C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS906887" }, { "coordinates": [ { "allele": "T", "end": 55, "referenceAllele": "C", "start": 54 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "ENST00000695353.1:c.-635C>T" ], "proteinEffect": { "hgvs": "ENSP00000511828.1:n.-635C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS906888" }, { "coordinates": [ { "allele": "T", "end": 450, "referenceAllele": "C", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "ENST00000695354.1:c.160C>T" ], "proteinEffect": { "hgvs": "ENSP00000511829.1:p.Arg54Ter", "hgvsWellDefined": "ENSP00000511829.1:p.Arg54_Leu394delinsSerGlnLysGluValLeuPheLeuHisValAsnAspGlySerSerLeuGluSerLeuGlnValValAlaAspSerGlyLeuAspSerArgGluLeuAsnPheGlySerSerValGluValGlnGlyGlnLeuIleLysSerProSerLysArgGlnAsnValGluLeuLysAlaGluLysIleLysValIleGlyAsnCysAspAlaLysAspPheProIleLysTyrLysGluArgHisProLeuGluTyrLeuArgGlnTyrProHisPheArgCysArgThrAsnValLeuGlySerIleLeuArgIleArgSerGluAlaThrAlaAlaIleHisSerPhePheLysAspSerGlyPheValHisIleHisThrProIleIleThrSerAsnAspSerGluGlyAlaGlyGluLeuPheGlnLeuGluProSerGlyLysLeuLysValProGluGluAsnPhePheAsnValProAlaPheLeuThrValSerGlyGlnLeuHisLeuGluValMetSerGlyAlaPheThrGlnValPheThrPheGlyProThrPheArgAlaGluAsnSerGlnSerArgArgHisLeuAlaGluPheTyrMetIleGluAlaGluIleSerPheValAspSerLeuGlnAspLeuMetGlnValIleGluGluLeuPheLysAlaThrThrMetMetValLeuSerLysCysProGluAspValGluLeuCysHisLysPheIleAlaProGlyGlnLysAspArgLeuGluHisMetLeuLysAsnAsnPheLeuIleIleSerTyrThrGluAlaValGluIleLeuLysGlnAlaSerGlnAsnPheThrPheThrProGluTrpGlyAlaAspLeuArgThrGluHisGluLysTyrLeuValLysHisCysGlyAsnIleProValPheValIleAsnTyrProLeuThrLeuLysProPheTyrMetArgAspAsnGluAspGlyProGlnHisThrGlyCysAsnAsnTrpLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906889" }, { "coordinates": [ { "allele": "T", "end": 450, "referenceAllele": "C", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "ENST00000695355.1:c.160C>T" ], "proteinEffect": { "hgvs": "ENSP00000511830.1:p.Arg54Ter", "hgvsWellDefined": "ENSP00000511830.1:p.Arg54_Trp397delinsSerGlnLysGluValLeuPheLeuHisValAsnAspGlySerSerLeuGluSerLeuGlnValValAlaAspSerGlyLeuAspSerArgGluLeuAsnPheGlySerSerValGluValGlnGlyGlnLeuIleLysSerProSerLysArgGlnAsnValGluLeuLysAlaGluLysIleLysValIleGlyAsnCysAspAlaLysAspPheProIleLysTyrLysGluArgHisProLeuGluTyrLeuArgGlnTyrProHisPheArgCysArgThrAsnValLeuGlySerIleLeuArgIleArgSerGluAlaThrAlaAlaIleHisSerPhePheLysAspSerGlyPheValHisIleHisThrProIleIleThrSerAsnAspSerGluGlyAlaGlyGluLeuPheGlnLeuGluProSerGlyLysLeuLysValProGluGluAsnPhePheAsnValProAlaPheLeuThrValSerGlyGlnLeuHisLeuGluValMetSerGlyAlaPheThrGlnValPheThrPheGlyProThrPheArgAlaGluAsnSerGlnSerArgArgHisLeuAlaGluPheTyrMetIleGluAlaGluIleSerPheValAspSerLeuGlnAspLeuMetGlnValIleGluGluLeuPheLysAlaThrThrMetMetValLeuSerLysCysProGluAspValGluLeuCysHisLysPheIleAlaProGlyGlnLysAspArgLeuGluHisMetLeuLysAsnAsnPheLeuIleIleSerTyrThrGluAlaValGluIleLeuLysGlnAlaSerGlnAsnPheThrPheThrProGluTrpGlyAlaAspLeuArgThrGluHisGluLysTyrLeuValLysHisCysGlyAsnIleProValPheValIleAsnTyrProLeuThrLeuLysProPheTyrMetArgAspAsnGluAspGlyProGlnHisThrSerSerLeuArgLysGluAlaMetTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906890" }, { "coordinates": [ { "allele": "T", "end": 590, "referenceAllele": "C", "start": 589 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "ENST00000695356.1:c.*141C>T" ], "proteinEffect": { "hgvs": "ENSP00000511831.1:n.*141C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS906891" }, { "coordinates": [ { "allele": "T", "end": 501, "referenceAllele": "C", "start": 500 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "ENST00000695357.1:c.160C>T" ], "proteinEffect": { "hgvs": "ENSP00000511832.1:p.Arg54Ter", "hgvsWellDefined": "ENSP00000511832.1:p.Arg54_Ser346delinsSerGlnLysGluValLeuPheLeuHisValAsnAspGlySerSerLeuGluSerLeuGlnValValAlaAspSerGlyLeuAspSerArgGluLeuAsnPheGlySerSerValGluValGlnGlyGlnLeuIleLysSerProSerLysArgGlnAsnValGluLeuLysAlaGluLysIleLysValIleGlyAsnCysAspAlaLysAspPheProIleLysTyrLysGluArgHisProLeuGluTyrLeuArgGlnTyrProHisPheArgCysArgThrAsnValLeuGlySerIleLeuArgIleArgSerGluAlaThrAlaAlaIleHisSerPhePheLysAspSerGlyPheValHisIleHisThrProIleIleThrSerAsnAspSerGluGlyAlaGlyGluLeuPheGlnLeuGluProSerGlyLysLeuLysValProGluGluAsnPhePheAsnValProAlaPheLeuThrValSerGlyGlnLeuHisLeuGluValMetSerGlyAlaPheThrGlnValPheThrPheGlyProThrPheArgAlaGluAsnSerGlnSerArgArgHisLeuAlaGluPheTyrMetIleGluAlaGluIleSerPheValAspSerLeuGlnAspLeuMetGlnValIleGluGluLeuPheLysAlaThrThrMetMetValLeuSerLysCysProGluAspValGluLeuCysHisLysPheIleAlaProGlyGlnLysAspArgLeuGluHisMetLeuLysAsnAsnPheLeuMetLeuLeuLeuLeuIlePheTrpPheLeuGluLeuGlyAsnSerLeuGluGluAlaSerGluLysAsnAspThrIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906892" }, { "coordinates": [ { "allele": "T", "end": 506, "referenceAllele": "C", "start": 505 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "ENST00000695358.1:c.160C>T" ], "proteinEffect": { "hgvs": "ENSP00000511833.1:p.Arg54Ter", "hgvsWellDefined": "ENSP00000511833.1:p.Arg54_Gln429delinsSerGlnLysGluValLeuPheLeuHisValAsnAspGlySerSerLeuGluSerLeuGlnValValAlaAspSerGlyLeuAspSerArgGluLeuAsnPheGlySerSerValGluValGlnGlyGlnLeuIleLysSerProSerLysArgGlnAsnValGluLeuLysAlaGluLysIleLysValIleGlyAsnCysAspAlaLysAspPheProIleLysTyrLysGluArgHisProLeuGluTyrLeuArgGlnTyrProHisPheArgCysArgThrAsnValLeuGlySerIleLeuArgIleArgSerGluAlaThrAlaAlaIleHisSerPhePheLysAspSerGlyPheValHisIleHisThrProIleIleThrSerAsnAspSerGluGlyAlaGlyGluLeuPheGlnLeuGluProSerGlyLysLeuLysValProGluGluAsnPhePheAsnValProAlaPheLeuThrValSerGlyGlnLeuHisLeuGluValMetSerGlyAlaPheThrGlnValPheThrPheGlyProThrPheArgAlaGluAsnSerGlnSerArgArgHisLeuAlaGluPheTyrMetIleGluAlaGluIleSerPheValAspSerLeuGlnAspLeuMetGlnValIleGluGluLeuPheLysAlaThrThrMetMetValLeuSerLysCysProGluAspValGluLeuCysHisLysPheIleAlaProGlyGlnLysAspArgLeuGluHisMetLeuLysAsnAsnPheLeuIleIleSerTyrThrGluAlaValGluIleLeuLysGlnAlaSerGlnAsnPheThrPheThrProGluTrpGlyAlaAspLeuArgThrGluHisGluLysTyrLeuValLysHisCysGlyAsnIleProValPheValIleAsnTyrProLeuThrLeuLysProPheTyrMetArgAspAsnGluAspGlyProGlnHisThrValAlaAlaValAspLeuLeuValProGlyValGlyGluLeuPheGlyGlyGlyLeuArgGluGluArgTyrHisPheLeuGluGluArgLeuAlaArgSerGlyLeuThrGluValTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906893" }, { "coordinates": [ { "allele": "T", "end": 450, "referenceAllele": "C", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "ENST00000695359.1:c.160C>T" ], "proteinEffect": { "hgvs": "ENSP00000511834.1:p.Arg54Ter", "hgvsWellDefined": "ENSP00000511834.1:p.Arg54_Ala183delinsSerGlnLysGluValLeuPheLeuHisValAsnAspGlySerSerLeuGluSerLeuGlnValValAlaAspSerGlyLeuAspSerArgGluLeuAsnPheGlySerSerValGluValGlnGlyGlnLeuIleLysSerProSerLysArgGlnAsnValGluLeuLysAlaGluLysIleLysValIleGlyAsnCysAspAlaLysAspPheProIleLysTyrLysGluArgHisProLeuGluTyrLeuArgGlnTyrProHisPheArgCysArgThrAsnValLeuGlySerIleLeuArgIleArgSerGluAlaThrAlaAlaIleHisSerPhePheLysSerSerLeuCysCysProGlyTrpSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906894" }, { "coordinates": [ { "allele": "T", "end": 450, "referenceAllele": "C", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "ENST00000695360.1:c.160C>T" ], "proteinEffect": { "hgvs": "ENSP00000511835.1:p.Arg54Ter", "hgvsWellDefined": "ENSP00000511835.1:p.Arg54_Leu509delinsSerGlnLysGluValLeuPheLeuHisValAsnAspGlySerSerLeuGluSerLeuGlnValValAlaAspSerGlyLeuAspSerArgGluLeuAsnPheGlySerSerValGluValGlnGlyGlnLeuIleLysSerProSerLysArgGlnAsnValGluLeuLysAlaGluLysIleLysValIleGlyAsnCysAspAlaLysAspPheProIleLysTyrLysGluArgHisProLeuGluTyrLeuArgGlnTyrProHisPheArgCysArgThrAsnValLeuGlySerIleLeuArgIleArgSerGluAlaThrAlaAlaIleHisSerPhePheLysAspSerGlyPheValHisIleHisThrProIleIleThrSerAsnAspSerGluGlyAlaGlyGluLeuPheGlnLeuGluProSerGlyLysLeuLysValProGluGluAsnPhePheAsnValProAlaPheLeuThrValSerGlyGlnLeuHisLeuGluValMetSerGlyAlaPheThrGlnValPheThrPheGlyProThrPheArgAlaGluAsnSerGlnSerArgArgHisLeuAlaGluPheTyrMetIleGluAlaGluIleSerPheValAspSerLeuGlnAspLeuMetGlnValIleGluGluLeuPheLysAlaThrThrMetMetValLeuSerLysCysProGluAspValGluLeuCysHisLysPheIleAlaProGlyGlnLysAspArgLeuGluHisMetLeuLysAsnAsnPheLeuIleIleSerTyrThrGluAlaValGluIleLeuLysGlnAlaSerGlnAsnPheThrPheThrProGluThrArgSerLeuCysValAlaGluAlaGlyValGlnTrpCysLysHisGlySerLeuGlnIleProProProArgLeuSerSerPheLeuProThrGlnSerProAsnTyrLeuGlyLeuGlnTrpGlyAlaAspLeuArgThrGluHisGluLysTyrLeuValLysHisCysGlyAsnIleProValPheValIleAsnTyrProLeuThrLeuLysProPheTyrMetArgAspAsnGluAspGlyProGlnHisThrValAlaAlaValAspLeuLeuValProGlyValGlyGluLeuPheGlyGlyGlyLeuArgGluGluArgTyrHisPheLeuGluGluArgLeuAlaArgTyrLeuAspLeuArgArgPheGlySerValProHisGlyGlyPheGlyMetGlyPheGluArgTyrLeuGlnCysIleLeuGlyValAspAsnIleLysAspValIleProPheProArgPheProHisSerCysLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906895" }, { "coordinates": [ { "allele": "T", "end": 450, "referenceAllele": "C", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "ENST00000695361.1:c.160C>T" ], "proteinEffect": { "hgvs": "ENSP00000511836.1:p.Arg54Ter", "hgvsWellDefined": "ENSP00000511836.1:p.Arg54_Ser212delinsSerGlnLysGluValLeuPheLeuHisValAsnAspGlySerSerLeuGluSerLeuGlnValValAlaAspSerGlyLeuAspSerArgGluLeuAsnPheGlySerSerValGluValGlnGlyGlnLeuIleLysSerProSerLysArgGlnAsnValGluLeuLysAlaGluLysIleLysValIleGlyAsnCysAspAlaLysAspPheProIleLysTyrLysGluArgHisProLeuGluTyrLeuArgGlnTyrProHisPheArgCysArgThrAsnValLeuGlySerIleLeuArgIleArgSerGluAlaThrAlaAlaIleHisSerPhePheLysAspSerGlyPheValHisIleHisThrProIleIleThrSerAsnAspSerGluGlyAlaGlyGluLeuPheGlnLeuGluSerPheTyrSerSerValTyrLeuTrpSerAspLeuProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906896" }, { "coordinates": [ { "allele": "T", "end": 450, "referenceAllele": "C", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "ENST00000695362.1:c.160C>T" ], "proteinEffect": { "hgvs": "ENSP00000511837.1:p.Arg54Ter", "hgvsWellDefined": "ENSP00000511837.1:p.Arg54_Gln212delinsSerGlnLysGluValLeuPheLeuHisValAsnAspGlySerSerLeuGluSerLeuGlnValValAlaAspSerGlyLeuAspSerArgGluLeuAsnPheGlySerSerValGluValGlnGlyGlnLeuIleLysSerProSerLysArgGlnAsnValGluLeuLysAlaGluLysIleLysValIleGlyAsnCysAspAlaLysAspPheProIleLysTyrLysGluArgHisProLeuGluTyrLeuArgGlnTyrProHisPheArgCysArgThrAsnValLeuGlySerIleLeuArgIleArgSerGluAlaThrAlaAlaIleHisSerPhePheLysSerLeuAlaValSerProArgLeuGluHisSerGlyValIleSerAlaHisCysAsnLeuCysLeuSerLeuLeuSerIleTrpAspTyrArgThrValAlaLeuTyrIlePheIleLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906897" }, { "coordinates": [ { "allele": "T", "end": 498, "referenceAllele": "C", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "ENST00000695364.1:n.498C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS906899" }, { "coordinates": [ { "allele": "T", "end": 450, "referenceAllele": "C", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "ENST00000695365.1:n.450C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS906900" }, { "coordinates": [ { "allele": "T", "end": 450, "referenceAllele": "C", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "ENST00000695366.1:c.160C>T" ], "proteinEffect": { "hgvs": "ENSP00000511838.1:p.Arg54Ter", "hgvsWellDefined": "ENSP00000511838.1:p.Arg54_Leu394delinsSerGlnLysGluValLeuPheLeuHisValAsnAspGlySerSerLeuGluSerLeuGlnValValAlaAspSerGlyLeuAspSerArgGluLeuAsnPheGlySerSerValGluValGlnGlyGlnLeuIleLysSerProSerLysArgGlnAsnValGluLeuLysAlaGluLysIleLysValIleGlyAsnCysAspAlaLysAspPheProIleLysTyrLysGluArgHisProLeuGluTyrLeuArgGlnTyrProHisPheArgCysArgThrAsnValLeuGlySerIleLeuArgIleArgSerGluAlaThrAlaAlaIleHisSerPhePheLysAspSerGlyPheValHisIleHisThrProIleIleThrSerAsnAspSerGluGlyAlaGlyGluLeuPheGlnLeuGluProSerGlyLysLeuLysValProGluGluAsnPhePheAsnValProAlaPheLeuThrValSerGlyGlnLeuHisLeuGluValMetSerGlyAlaPheThrGlnValPheThrPheGlyProThrPheArgAlaGluAsnSerGlnSerArgArgHisLeuAlaGluPheTyrMetIleGluAlaGluIleSerPheValAspSerLeuGlnAspLeuMetGlnValIleGluGluLeuPheLysAlaThrThrMetMetValLeuSerLysCysProGluAspValGluLeuCysHisLysPheIleAlaProGlyGlnLysAspArgLeuGluHisMetLeuLysAsnAsnPheLeuIleIleSerTyrThrGluAlaValGluIleLeuLysGlnAlaSerGlnAsnPheThrPheThrProGluTrpGlyAlaAspLeuArgThrGluHisGluLysTyrLeuValLysHisCysGlyAsnIleProValPheValIleAsnTyrProLeuThrLeuLysProPheTyrMetArgAspAsnGluAspGlyProGlnHisThrGlyCysAsnAsnTrpLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906901" }, { "coordinates": [ { "allele": "T", "end": 536, "referenceAllele": "C", "start": 535 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "ENST00000281038.10:c.160C>T" ], "proteinEffect": { "hgvs": "ENSP00000281038.5:p.Arg54Ter", "hgvsWellDefined": "ENSP00000281038.5:p.Arg54_Leu477delinsSerGlnLysGluValLeuPheLeuHisValAsnAspGlySerSerLeuGluSerLeuGlnValValAlaAspSerGlyLeuAspSerArgGluLeuAsnPheGlySerSerValGluValGlnGlyGlnLeuIleLysSerProSerLysArgGlnAsnValGluLeuLysAlaGluLysIleLysValIleGlyAsnCysAspAlaLysAspPheProIleLysTyrLysGluArgHisProLeuGluTyrLeuArgGlnTyrProHisPheArgCysArgThrAsnValLeuGlySerIleLeuArgIleArgSerGluAlaThrAlaAlaIleHisSerPhePheLysAspSerGlyPheValHisIleHisThrProIleIleThrSerAsnAspSerGluGlyAlaGlyGluLeuPheGlnLeuGluProSerGlyLysLeuLysValProGluGluAsnPhePheAsnValProAlaPheLeuThrValSerGlyGlnLeuHisLeuGluValMetSerGlyAlaPheThrGlnValPheThrPheGlyProThrPheArgAlaGluAsnSerGlnSerArgArgHisLeuAlaGluPheTyrMetIleGluAlaGluIleSerPheValAspSerLeuGlnAspLeuMetGlnValIleGluGluLeuPheLysAlaThrThrMetMetValLeuSerLysCysProGluAspValGluLeuCysHisLysPheIleAlaProGlyGlnLysAspArgLeuGluHisMetLeuLysAsnAsnPheLeuIleIleSerTyrThrGluAlaValGluIleLeuLysGlnAlaSerGlnAsnPheThrPheThrProGluTrpGlyAlaAspLeuArgThrGluHisGluLysTyrLeuValLysHisCysGlyAsnIleProValPheValIleAsnTyrProLeuThrLeuLysProPheTyrMetArgAspAsnGluAspGlyProGlnHisThrValAlaAlaValAspLeuLeuValProGlyValGlyGluLeuPheGlyGlyGlyLeuArgGluGluArgTyrHisPheLeuGluGluArgLeuAlaArgSerGlyLeuThrGluValTyrGlnTrpTyrLeuAspLeuArgArgPheGlySerValProHisGlyGlyPheGlyMetGlyPheGluArgTyrLeuGlnCysIleLeuGlyValAspAsnIleLysAspValIleProPheProArgPheProHisSerCysLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743588", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000281038.10:c.160C>T" }, "RefSeq": { "hgvs": "NM_024678.6:c.160C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000281038.5:p.Arg54Ter" }, "RefSeq": { "hgvs": "NP_078954.4:p.Arg54Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 536, "referenceAllele": "C", "start": 535 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "ENST00000281038.9:c.160C>T" ], "proteinEffect": { "hgvs": "ENSP00000281038.5:p.Arg54Ter", "hgvsWellDefined": "ENSP00000281038.5:p.Arg54_Leu477delinsSerGlnLysGluValLeuPheLeuHisValAsnAspGlySerSerLeuGluSerLeuGlnValValAlaAspSerGlyLeuAspSerArgGluLeuAsnPheGlySerSerValGluValGlnGlyGlnLeuIleLysSerProSerLysArgGlnAsnValGluLeuLysAlaGluLysIleLysValIleGlyAsnCysAspAlaLysAspPheProIleLysTyrLysGluArgHisProLeuGluTyrLeuArgGlnTyrProHisPheArgCysArgThrAsnValLeuGlySerIleLeuArgIleArgSerGluAlaThrAlaAlaIleHisSerPhePheLysAspSerGlyPheValHisIleHisThrProIleIleThrSerAsnAspSerGluGlyAlaGlyGluLeuPheGlnLeuGluProSerGlyLysLeuLysValProGluGluAsnPhePheAsnValProAlaPheLeuThrValSerGlyGlnLeuHisLeuGluValMetSerGlyAlaPheThrGlnValPheThrPheGlyProThrPheArgAlaGluAsnSerGlnSerArgArgHisLeuAlaGluPheTyrMetIleGluAlaGluIleSerPheValAspSerLeuGlnAspLeuMetGlnValIleGluGluLeuPheLysAlaThrThrMetMetValLeuSerLysCysProGluAspValGluLeuCysHisLysPheIleAlaProGlyGlnLysAspArgLeuGluHisMetLeuLysAsnAsnPheLeuIleIleSerTyrThrGluAlaValGluIleLeuLysGlnAlaSerGlnAsnPheThrPheThrProGluTrpGlyAlaAspLeuArgThrGluHisGluLysTyrLeuValLysHisCysGlyAsnIleProValPheValIleAsnTyrProLeuThrLeuLysProPheTyrMetArgAspAsnGluAspGlyProGlnHisThrValAlaAlaValAspLeuLeuValProGlyValGlyGluLeuPheGlyGlyGlyLeuArgGluGluArgTyrHisPheLeuGluGluArgLeuAlaArgSerGlyLeuThrGluValTyrGlnTrpTyrLeuAspLeuArgArgPheGlySerValProHisGlyGlyPheGlyMetGlyPheGluArgTyrLeuGlnCysIleLeuGlyValAspAsnIleLysAspValIleProPheProArgPheProHisSerCysLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252970" }, { "coordinates": [ { "allele": "T", "end": 245, "referenceAllele": "C", "start": 244 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "ENST00000526709.1:n.245C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS352524" }, { "coordinates": [ { "allele": "T", "end": 416, "referenceAllele": "C", "start": 415 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "ENST00000528850.5:c.-522C>T" ], "proteinEffect": { "hgvs": "ENSP00000432635.1:n.-522C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS354327" }, { "coordinates": [ { "allele": "T", "end": 65, "referenceAllele": "C", "start": 64 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "ENST00000529571.1:c.-522C>T" ], "proteinEffect": { "hgvs": "ENSP00000433478.1:n.-522C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS354946" }, { "coordinates": [ { "allele": "T", "end": 190, "referenceAllele": "C", "start": 189 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "ENST00000529880.1:c.160C>T" ], "proteinEffect": { "hgvs": "ENSP00000432240.1:p.Arg54Ter", "hgvsWellDefined": "ENSP00000432240.1:p.Arg54Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS355221" }, { "coordinates": [ { "allele": "T", "end": 55, "referenceAllele": "C", "start": 54 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "NM_001243251.1:c.-522C>T" ], "proteinEffect": { "hgvs": "NP_001230180.1:n.-522C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS018469" }, { "@id": "http://reg.genome.network/allele/PA2580446438", "coordinates": [ { "allele": "T", "end": 536, "referenceAllele": "C", "start": 535 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "NM_024678.5:c.160C>T" ], "proteinEffect": { "hgvs": "NP_078954.4:p.Arg54Ter", "hgvsWellDefined": "NP_078954.4:p.Arg54_Leu477delinsSerGlnLysGluValLeuPheLeuHisValAsnAspGlySerSerLeuGluSerLeuGlnValValAlaAspSerGlyLeuAspSerArgGluLeuAsnPheGlySerSerValGluValGlnGlyGlnLeuIleLysSerProSerLysArgGlnAsnValGluLeuLysAlaGluLysIleLysValIleGlyAsnCysAspAlaLysAspPheProIleLysTyrLysGluArgHisProLeuGluTyrLeuArgGlnTyrProHisPheArgCysArgThrAsnValLeuGlySerIleLeuArgIleArgSerGluAlaThrAlaAlaIleHisSerPhePheLysAspSerGlyPheValHisIleHisThrProIleIleThrSerAsnAspSerGluGlyAlaGlyGluLeuPheGlnLeuGluProSerGlyLysLeuLysValProGluGluAsnPhePheAsnValProAlaPheLeuThrValSerGlyGlnLeuHisLeuGluValMetSerGlyAlaPheThrGlnValPheThrPheGlyProThrPheArgAlaGluAsnSerGlnSerArgArgHisLeuAlaGluPheTyrMetIleGluAlaGluIleSerPheValAspSerLeuGlnAspLeuMetGlnValIleGluGluLeuPheLysAlaThrThrMetMetValLeuSerLysCysProGluAspValGluLeuCysHisLysPheIleAlaProGlyGlnLysAspArgLeuGluHisMetLeuLysAsnAsnPheLeuIleIleSerTyrThrGluAlaValGluIleLeuLysGlnAlaSerGlnAsnPheThrPheThrProGluTrpGlyAlaAspLeuArgThrGluHisGluLysTyrLeuValLysHisCysGlyAsnIleProValPheValIleAsnTyrProLeuThrLeuLysProPheTyrMetArgAspAsnGluAspGlyProGlnHisThrValAlaAlaValAspLeuLeuValProGlyValGlyGluLeuPheGlyGlyGlyLeuArgGluGluArgTyrHisPheLeuGluGluArgLeuAlaArgSerGlyLeuThrGluValTyrGlnTrpTyrLeuAspLeuArgArgPheGlySerValProHisGlyGlyPheGlyMetGlyPheGluArgTyrLeuGlnCysIleLeuGlyValAspAsnIleLysAspValIleProPheProArgPheProHisSerCysLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037927" }, { "coordinates": [ { "allele": "T", "end": 529, "referenceAllele": "C", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "XM_011545253.1:c.160C>T" ], "proteinEffect": { "hgvs": "XP_011543555.1:p.Arg54Ter", "hgvsWellDefined": "XP_011543555.1:p.Arg54_Leu468delinsSerGlnLysGluValLeuPheLeuHisValAsnAspGlySerSerLeuGluSerLeuGlnValValAlaAspSerGlyLeuAspSerArgGluLeuAsnPheGlySerSerValGluValGlnGlyGlnLeuIleLysSerProSerLysArgGlnAsnValGluLeuLysAlaGluLysIleLysValIleGlyAsnCysAspAlaLysAspPheProIleLysTyrLysGluArgHisProLeuGluTyrLeuArgGlnTyrProHisPheArgCysArgThrAsnValLeuGlySerIleLeuArgIleArgSerGluAlaThrAlaAlaIleHisSerPhePheLysAspSerGlyPheValHisIleHisThrProIleIleThrSerAsnAspSerGluGlyAlaGlyGluLeuPheGlnLeuGluProSerGlyLysLeuLysValProGluGluAsnPhePheAsnValProAlaPheLeuThrValSerGlyGlnLeuHisLeuGluValMetSerGlyAlaPheThrGlnValPheThrPheGlyProThrPheArgAlaGluAsnSerGlnSerArgArgHisLeuAlaGluPheTyrMetIleGluAlaGluIleSerPheValAspSerLeuGlnAspLeuMetGlnValIleGluGluLeuPheLysAlaThrThrMetMetValLeuSerLysCysProGluAspValGluLeuCysHisLysPheIleAlaProGlyGlnLysAspArgLeuGluHisMetLeuLysAsnAsnPheLeuIleIleSerTyrThrGluAlaValGluIleLeuLysGlnAlaSerGlnAsnPheThrPheThrProGluTrpGlyAlaAspLeuArgThrGluHisGluLysTyrLeuValLysHisCysGlyAsnIleProValPheValIleAsnTyrProLeuThrLeuLysProPheTyrMetArgAspAsnGluAspGlyProGlnHisThrValAlaAlaValAspLeuLeuValProGlyValGlyGluLeuPheGlyGlyGlyLeuArgGluGluArgTyrHisPheLeuGluGluArgLeuAlaArgTyrLeuAspLeuArgArgPheGlySerValProHisGlyGlyPheGlyMetGlyPheGluArgTyrLeuGlnCysIleLeuGlyValAspAsnIleLysAspValIleProPheProArgPheProHisSerCysLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112157" }, { "coordinates": [ { "allele": "T", "end": 529, "referenceAllele": "C", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "XR_950050.1:n.529C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS143277" }, { "coordinates": [ { "allele": "T", "end": 529, "referenceAllele": "C", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "XR_950051.1:n.529C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS143278" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "XM_011545253.2:c.160C>T" ], "proteinEffect": { "hgvs": "XP_011543555.1:p.Arg54Ter", "hgvsWellDefined": "XP_011543555.1:p.Arg54_Leu468delinsSerGlnLysGluValLeuPheLeuHisValAsnAspGlySerSerLeuGluSerLeuGlnValValAlaAspSerGlyLeuAspSerArgGluLeuAsnPheGlySerSerValGluValGlnGlyGlnLeuIleLysSerProSerLysArgGlnAsnValGluLeuLysAlaGluLysIleLysValIleGlyAsnCysAspAlaLysAspPheProIleLysTyrLysGluArgHisProLeuGluTyrLeuArgGlnTyrProHisPheArgCysArgThrAsnValLeuGlySerIleLeuArgIleArgSerGluAlaThrAlaAlaIleHisSerPhePheLysAspSerGlyPheValHisIleHisThrProIleIleThrSerAsnAspSerGluGlyAlaGlyGluLeuPheGlnLeuGluProSerGlyLysLeuLysValProGluGluAsnPhePheAsnValProAlaPheLeuThrValSerGlyGlnLeuHisLeuGluValMetSerGlyAlaPheThrGlnValPheThrPheGlyProThrPheArgAlaGluAsnSerGlnSerArgArgHisLeuAlaGluPheTyrMetIleGluAlaGluIleSerPheValAspSerLeuGlnAspLeuMetGlnValIleGluGluLeuPheLysAlaThrThrMetMetValLeuSerLysCysProGluAspValGluLeuCysHisLysPheIleAlaProGlyGlnLysAspArgLeuGluHisMetLeuLysAsnAsnPheLeuIleIleSerTyrThrGluAlaValGluIleLeuLysGlnAlaSerGlnAsnPheThrPheThrProGluTrpGlyAlaAspLeuArgThrGluHisGluLysTyrLeuValLysHisCysGlyAsnIleProValPheValIleAsnTyrProLeuThrLeuLysProPheTyrMetArgAspAsnGluAspGlyProGlnHisThrValAlaAlaValAspLeuLeuValProGlyValGlyGluLeuPheGlyGlyGlyLeuArgGluGluArgTyrHisPheLeuGluGluArgLeuAlaArgTyrLeuAspLeuArgArgPheGlySerValProHisGlyGlyPheGlyMetGlyPheGluArgTyrLeuGlnCysIleLeuGlyValAspAsnIleLysAspValIleProPheProArgPheProHisSerCysLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS556006" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "XM_017018302.2:c.160C>T" ], "proteinEffect": { "hgvs": "XP_016873791.1:p.Arg54Ter", "hgvsWellDefined": "XP_016873791.1:p.Arg54_Tyr310delinsSerGlnLysGluValLeuPheLeuHisValAsnAspGlySerSerLeuGluSerLeuGlnValValAlaAspSerGlyLeuAspSerArgGluLeuAsnPheGlySerSerValGluValGlnGlyGlnLeuIleLysSerProSerLysArgGlnAsnValGluLeuLysAlaGluLysIleLysValIleGlyAsnCysAspAlaLysAspPheProIleLysTyrLysGluArgHisProLeuGluTyrLeuArgGlnTyrProHisPheArgCysArgThrAsnValLeuGlySerIleLeuArgIleArgSerGluAlaThrAlaAlaIleHisSerPhePheLysAspSerGlyPheValHisIleHisThrProIleIleThrSerAsnAspSerGluGlyAlaGlyGluLeuPheGlnLeuGluProSerGlyLysLeuLysValProGluGluAsnPhePheAsnValProAlaPheLeuThrValSerGlyGlnLeuHisLeuGluValMetSerGlyAlaPheThrGlnValPheThrPheGlyProThrPheArgAlaGluAsnSerGlnSerArgArgHisLeuAlaGluPheTyrMetIleGluAlaGluIleSerPheValAspSerLeuGlnAspLeuMetGlnValIleGluGluLeuPheLysAlaThrThrMetMetValLeuSerLysCysProGluAspValGluLeuCysHisLysPheIleAlaProGlyGlnLysSerPheTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570267" }, { "coordinates": [ { "allele": "T", "end": 48, "referenceAllele": "C", "start": 47 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "XM_017018303.1:c.-594C>T" ], "proteinEffect": { "hgvs": "XP_016873792.1:n.-594C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS570268" }, { "coordinates": [ { "allele": "T", "end": 55, "referenceAllele": "C", "start": 54 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "XM_017018304.2:c.-522C>T" ], "proteinEffect": { "hgvs": "XP_016873793.1:n.-522C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS570269" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "XR_001747963.2:n.514C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596035" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "XR_001747964.2:n.514C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596036" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "XR_001747965.2:n.514C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596037" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "XR_001747966.2:n.514C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596038" }, { "@id": "http://reg.genome.network/allele/PA2580446438", "coordinates": [ { "allele": "T", "end": 536, "referenceAllele": "C", "start": 535 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "NM_024678.6:c.160C>T" ], "proteinEffect": { "hgvs": "NP_078954.4:p.Arg54Ter", "hgvsWellDefined": "NP_078954.4:p.Arg54_Leu477delinsSerGlnLysGluValLeuPheLeuHisValAsnAspGlySerSerLeuGluSerLeuGlnValValAlaAspSerGlyLeuAspSerArgGluLeuAsnPheGlySerSerValGluValGlnGlyGlnLeuIleLysSerProSerLysArgGlnAsnValGluLeuLysAlaGluLysIleLysValIleGlyAsnCysAspAlaLysAspPheProIleLysTyrLysGluArgHisProLeuGluTyrLeuArgGlnTyrProHisPheArgCysArgThrAsnValLeuGlySerIleLeuArgIleArgSerGluAlaThrAlaAlaIleHisSerPhePheLysAspSerGlyPheValHisIleHisThrProIleIleThrSerAsnAspSerGluGlyAlaGlyGluLeuPheGlnLeuGluProSerGlyLysLeuLysValProGluGluAsnPhePheAsnValProAlaPheLeuThrValSerGlyGlnLeuHisLeuGluValMetSerGlyAlaPheThrGlnValPheThrPheGlyProThrPheArgAlaGluAsnSerGlnSerArgArgHisLeuAlaGluPheTyrMetIleGluAlaGluIleSerPheValAspSerLeuGlnAspLeuMetGlnValIleGluGluLeuPheLysAlaThrThrMetMetValLeuSerLysCysProGluAspValGluLeuCysHisLysPheIleAlaProGlyGlnLysAspArgLeuGluHisMetLeuLysAsnAsnPheLeuIleIleSerTyrThrGluAlaValGluIleLeuLysGlnAlaSerGlnAsnPheThrPheThrProGluTrpGlyAlaAspLeuArgThrGluHisGluLysTyrLeuValLysHisCysGlyAsnIleProValPheValIleAsnTyrProLeuThrLeuLysProPheTyrMetArgAspAsnGluAspGlyProGlnHisThrValAlaAlaValAspLeuLeuValProGlyValGlyGluLeuPheGlyGlyGlyLeuArgGluGluArgTyrHisPheLeuGluGluArgLeuAlaArgSerGlyLeuThrGluValTyrGlnTrpTyrLeuAspLeuArgArgPheGlySerValProHisGlyGlyPheGlyMetGlyPheGluArgTyrLeuGlnCysIleLeuGlyValAspAsnIleLysAspValIleProPheProArgPheProHisSerCysLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670749", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000281038.10:c.160C>T" }, "RefSeq": { "hgvs": "NM_024678.6:c.160C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000281038.5:p.Arg54Ter" }, "RefSeq": { "hgvs": "NP_078954.4:p.Arg54Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 55, "referenceAllele": "C", "start": 54 } ], "gene": "http://reg.genome.network/gene/GN026274", "geneNCBI_id": 79731, "geneSymbol": "NARS2", "hgvs": [ "NM_001243251.2:c.-522C>T" ], "proteinEffect": { "hgvs": "NP_001230180.1:n.-522C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS714461" } ], "type": "nucleotide" }