{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA363173597", "communityStandardTitle": [ "NM_020442.6(VARS2):c.1583G>A (p.Trp528Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1707303[alleleid]", "alleleId": 1707303, "preferredName": "NM_020442.6(VARS2):c.1583G>A (p.Trp528Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1708949", "RCV": [ "RCV002288233" ], "variationId": 1708949 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.30889033G>A?assembly=hg19", "id": "chr6:g.30889033G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.30921256G>A?assembly=hg38", "id": "chr6:g.30921256G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2538661360", "rs": 2538661360 } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 30921256, "referenceAllele": "G", "start": 30921255 } ], "hgvs": [ "NC_000006.12:g.30921256G>A", "CM000668.2:g.30921256G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 30889033, "referenceAllele": "G", "start": 30889032 } ], "hgvs": [ "NC_000006.11:g.30889033G>A", "CM000668.1:g.30889033G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 30997012, "referenceAllele": "G", "start": 30997011 } ], "hgvs": [ "NC_000006.10:g.30997012G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "A", "end": 12049, "referenceAllele": "G", "start": 12048 } ], "hgvs": [ "NG_034224.1:g.12049G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005813" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1754, "referenceAllele": "G", "start": 1753 } ], "gene": "http://reg.genome.network/gene/GN021642", "geneNCBI_id": 57176, "geneSymbol": "VARS2", "hgvs": [ "ENST00000541562.6:c.1583G>A" ], "proteinEffect": { "hgvs": "ENSP00000441000.2:p.Trp528Ter", "hgvsWellDefined": "ENSP00000441000.2:p.Trp529_Leu1063delinsGlyHisGlnIleProAlaTyrLeuValValGluAspHisAlaGlnGlyGluGluAspCysTrpValValGlyArgSerGluAlaGluAlaArgGluValAlaAlaGluLeuThrGlyArgProGlyAlaGluLeuThrLeuGluArgAspProAspValLeuAspThrTrpPheSerSerAlaLeuPheProPheSerAlaLeuGlyTrpProGlnGluThrProAspLeuAlaArgPheTyrProLeuSerLeuLeuGluThrGlySerAspLeuLeuLeuPheTrpValGlyArgMetValMetLeuGlyThrGlnLeuThrGlyGlnLeuProPheSerLysValLeuLeuHisProMetValArgAspArgGlnGlyArgLysMetSerLysSerLeuGlyAsnValLeuAspProArgAspIleIleSerGlyValGluMetGlnValLeuGlnGluLysLeuArgSerGlyAsnLeuAspProAlaGluLeuAlaIleValAlaAlaAlaGlnLysLysAspPheProHisGlyIleProGluCysGlyThrAspAlaLeuArgPheThrLeuCysSerHisGlyValGlnAlaGlyAspLeuHisLeuSerValSerGluValGlnSerCysArgHisPheCysAsnLysIleTrpAsnAlaLeuArgPheIleLeuAsnAlaLeuGlyGluLysPheValProGlnProAlaGluGluLeuSerProSerSerProMetAspAlaTrpIleLeuSerArgLeuAlaLeuAlaAlaGlnGluCysGluArgGlyPheLeuThrArgGluLeuSerLeuValThrHisAlaLeuHisHisPheTrpLeuHisAsnLeuCysAspValTyrLeuGluAlaValLysProValLeuTrpHisSerProArgProLeuGlyProProGlnValLeuPheSerCysAlaAspLeuGlyLeuArgLeuLeuAlaProLeuMetProPheLeuAlaGluGluLeuTrpGlnArgLeuProProArgProGlyCysProProAlaProSerIleSerValAlaProTyrProSerAlaCysSerLeuGluHisTrpArgGlnProGluLeuGluArgArgPheSerArgValGlnGluValValGlnValLeuArgAlaLeuArgAlaThrTyrGlnLeuThrLysAlaArgProArgValLeuLeuGlnSerSerGluProGlyAspGlnGlyLeuPheGluAlaPheLeuGluProLeuGlyThrLeuGlyTyrCysGlyAlaValGlyLeuLeuProProGlyAlaAlaAlaProSerGlyTrpAlaGlnAlaProLeuSerAspThrAlaGlnValTyrMetGluLeuGlnGlyLeuValAspProGlnIleGlnLeuProLeuLeuAlaAlaArgArgTyrLysLeuGlnLysGlnLeuAspSerLeuThrAlaArgThrProSerGluGlyGluAlaGlyThrGlnArgGlnGlnLysLeuSerSerLeuGlnLeuGluLeuSerLysLeuAspLysAlaAlaSerHisLeuArgGlnLeuMetAspGluProProAlaProGlySerProGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759668" }, { "coordinates": [ { "allele": "A", "end": 2209, "referenceAllele": "G", "start": 2208 } ], "gene": "http://reg.genome.network/gene/GN021642", "geneNCBI_id": 57176, "geneSymbol": "VARS2", "hgvs": [ "ENST00000672801.1:c.1577G>A" ], "proteinEffect": { "hgvs": "ENSP00000500615.1:p.Trp526Ter", "hgvsWellDefined": "ENSP00000500615.1:p.Trp527_Leu1061delinsGlyHisGlnIleProAlaTyrLeuValValGluAspHisAlaGlnGlyGluGluAspCysTrpValValGlyArgSerGluAlaGluAlaArgGluValAlaAlaGluLeuThrGlyArgProGlyAlaGluLeuThrLeuGluArgAspProAspValLeuAspThrTrpPheSerSerAlaLeuPheProPheSerAlaLeuGlyTrpProGlnGluThrProAspLeuAlaArgPheTyrProLeuSerLeuLeuGluThrGlySerAspLeuLeuLeuPheTrpValGlyArgMetValMetLeuGlyThrGlnLeuThrGlyGlnLeuProPheSerLysValLeuLeuHisProMetValArgAspArgGlnGlyArgLysMetSerLysSerLeuGlyAsnValLeuAspProArgAspIleIleSerGlyValGluMetGlnValLeuGlnGluLysLeuArgSerGlyAsnLeuAspProAlaGluLeuAlaIleValAlaAlaAlaGlnLysLysAspPheProHisGlyIleProGluCysGlyThrAspAlaLeuArgPheThrLeuCysSerHisGlyValGlnAlaGlyAspLeuHisLeuSerValSerGluValGlnSerCysArgHisPheCysAsnLysIleTrpAsnAlaLeuArgPheIleLeuAsnAlaLeuGlyGluLysPheValProGlnProAlaGluGluLeuSerProSerSerProMetAspAlaTrpIleLeuSerArgLeuAlaLeuAlaAlaGlnGluCysGluArgGlyPheLeuThrArgGluLeuSerLeuValThrHisAlaLeuHisHisPheTrpLeuHisAsnLeuCysAspValTyrLeuGluAlaValLysProValLeuTrpHisSerProArgProLeuGlyProProGlnValLeuPheSerCysAlaAspLeuGlyLeuArgLeuLeuAlaProLeuMetProPheLeuAlaGluGluLeuTrpGlnArgLeuProProArgProGlyCysProProAlaProSerIleSerValAlaProTyrProSerAlaCysSerLeuGluHisTrpArgGlnProGluLeuGluArgArgPheSerArgValGlnGluValValGlnValLeuArgAlaLeuArgAlaThrTyrGlnLeuThrLysAlaArgProArgValLeuLeuGlnSerSerGluProGlyAspGlnGlyLeuPheGluAlaPheLeuGluProLeuGlyThrLeuGlyTyrCysGlyAlaValGlyLeuLeuProProGlyAlaAlaAlaProSerGlyTrpAlaGlnAlaProLeuSerAspThrAlaGlnValTyrMetGluLeuGlnGlyLeuValAspProGlnIleGlnLeuProLeuLeuAlaAlaArgArgTyrLysLeuGlnLysGlnLeuAspSerLeuThrAlaArgThrProSerGluGlyGluAlaGlyThrGlnArgGlnGlnLysLeuSerSerLeuGlnLeuGluLeuSerLysLeuAspLysAlaAlaSerHisLeuArgGlnLeuMetAspGluProProAlaProGlySerProGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773493" }, { "coordinates": [ { "allele": "A", "end": 1717, "referenceAllele": "G", "start": 1716 } ], "gene": "http://reg.genome.network/gene/GN021642", "geneNCBI_id": 57176, "geneSymbol": "VARS2", "hgvs": [ "ENST00000676266.1:c.1583G>A" ], "proteinEffect": { "hgvs": "ENSP00000502585.1:p.Trp528Ter", "hgvsWellDefined": "ENSP00000502585.1:p.Trp529_Leu1063delinsGlyHisGlnIleProAlaTyrLeuValValGluAspHisAlaGlnGlyGluGluAspCysTrpValValGlyArgSerGluAlaGluAlaArgGluValAlaAlaGluLeuThrGlyArgProGlyAlaGluLeuThrLeuGluArgAspProAspValLeuAspThrTrpPheSerSerAlaLeuPheProPheSerAlaLeuGlyTrpProGlnGluThrProAspLeuAlaArgPheTyrProLeuSerLeuLeuGluThrGlySerAspLeuLeuLeuPheTrpValGlyArgMetValMetLeuGlyThrGlnLeuThrGlyGlnLeuProPheSerLysValLeuLeuHisProMetValArgAspArgGlnGlyArgLysMetSerLysSerLeuGlyAsnValLeuAspProArgAspIleIleSerGlyValGluMetGlnValLeuGlnGluLysLeuArgSerGlyAsnLeuAspProAlaGluLeuAlaIleValAlaAlaAlaGlnLysLysAspPheProHisGlyIleProGluCysGlyThrAspAlaLeuArgPheThrLeuCysSerHisGlyValGlnAlaGlyAspLeuHisLeuSerValSerGluValGlnSerCysArgHisPheCysAsnLysIleTrpAsnAlaLeuArgPheIleLeuAsnAlaLeuGlyGluLysPheValProGlnProAlaGluGluLeuSerProSerSerProMetAspAlaTrpIleLeuSerArgLeuAlaLeuAlaAlaGlnGluCysGluArgGlyPheLeuThrArgGluLeuSerLeuValThrHisAlaLeuHisHisPheTrpLeuHisAsnLeuCysAspValTyrLeuGluAlaValLysProValLeuTrpHisSerProArgProLeuGlyProProGlnValLeuPheSerCysAlaAspLeuGlyLeuArgLeuLeuAlaProLeuMetProPheLeuAlaGluGluLeuTrpGlnArgLeuProProArgProGlyCysProProAlaProSerIleSerValAlaProTyrProSerAlaCysSerLeuGluHisTrpArgGlnProGluLeuGluArgArgPheSerArgValGlnGluValValGlnValLeuArgAlaLeuArgAlaThrTyrGlnLeuThrLysAlaArgProArgValLeuLeuGlnSerSerGluProGlyAspGlnGlyLeuPheGluAlaPheLeuGluProLeuGlyThrLeuGlyTyrCysGlyAlaValGlyLeuLeuProProGlyAlaAlaAlaProSerGlyTrpAlaGlnAlaProLeuSerAspThrAlaGlnValTyrMetGluLeuGlnGlyLeuValAspProGlnIleGlnLeuProLeuLeuAlaAlaArgArgTyrLysLeuGlnLysGlnLeuAspSerLeuThrAlaArgThrProSerGluGlyGluAlaGlyThrGlnArgGlnGlnLysLeuSerSerLeuGlnLeuGluLeuSerLysLeuAspLysAlaAlaSerHisLeuArgGlnLeuMetAspGluProProAlaProGlySerProGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775975", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000676266.1:c.1583G>A" }, "RefSeq": { "hgvs": "NM_020442.6:c.1583G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000502585.1:p.Trp528Ter" }, "RefSeq": { "hgvs": "NP_065175.4:p.Trp528Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2215, "referenceAllele": "G", "start": 2214 } ], "gene": "http://reg.genome.network/gene/GN021642", "geneNCBI_id": 57176, "geneSymbol": "VARS2", "hgvs": [ "ENST00000321897.9:c.1583G>A" ], "proteinEffect": { "hgvs": "ENSP00000316092.5:p.Trp528Ter", "hgvsWellDefined": "ENSP00000316092.5:p.Trp529_Leu1063delinsGlyHisGlnIleProAlaTyrLeuValValGluAspHisAlaGlnGlyGluGluAspCysTrpValValGlyArgSerGluAlaGluAlaArgGluValAlaAlaGluLeuThrGlyArgProGlyAlaGluLeuThrLeuGluArgAspProAspValLeuAspThrTrpPheSerSerAlaLeuPheProPheSerAlaLeuGlyTrpProGlnGluThrProAspLeuAlaArgPheTyrProLeuSerLeuLeuGluThrGlySerAspLeuLeuLeuPheTrpValGlyArgMetValMetLeuGlyThrGlnLeuThrGlyGlnLeuProPheSerLysValLeuLeuHisProMetValArgAspArgGlnGlyArgLysMetSerLysSerLeuGlyAsnValLeuAspProArgAspIleIleSerGlyValGluMetGlnValLeuGlnGluLysLeuArgSerGlyAsnLeuAspProAlaGluLeuAlaIleValAlaAlaAlaGlnLysLysAspPheProHisGlyIleProGluCysGlyThrAspAlaLeuArgPheThrLeuCysSerHisGlyValGlnAlaGlyAspLeuHisLeuSerValSerGluValGlnSerCysArgHisPheCysAsnLysIleTrpAsnAlaLeuArgPheIleLeuAsnAlaLeuGlyGluLysPheValProGlnProAlaGluGluLeuSerProSerSerProMetAspAlaTrpIleLeuSerArgLeuAlaLeuAlaAlaGlnGluCysGluArgGlyPheLeuThrArgGluLeuSerLeuValThrHisAlaLeuHisHisPheTrpLeuHisAsnLeuCysAspValTyrLeuGluAlaValLysProValLeuTrpHisSerProArgProLeuGlyProProGlnValLeuPheSerCysAlaAspLeuGlyLeuArgLeuLeuAlaProLeuMetProPheLeuAlaGluGluLeuTrpGlnArgLeuProProArgProGlyCysProProAlaProSerIleSerValAlaProTyrProSerAlaCysSerLeuGluHisTrpArgGlnProGluLeuGluArgArgPheSerArgValGlnGluValValGlnValLeuArgAlaLeuArgAlaThrTyrGlnLeuThrLysAlaArgProArgValLeuLeuGlnSerSerGluProGlyAspGlnGlyLeuPheGluAlaPheLeuGluProLeuGlyThrLeuGlyTyrCysGlyAlaValGlyLeuLeuProProGlyAlaAlaAlaProSerGlyTrpAlaGlnAlaProLeuSerAspThrAlaGlnValTyrMetGluLeuGlnGlyLeuValAspProGlnIleGlnLeuProLeuLeuAlaAlaArgArgTyrLysLeuGlnLysGlnLeuAspSerLeuThrAlaArgThrProSerGluGlyGluAlaGlyThrGlnArgGlnGlnLysLeuSerSerLeuGlnLeuGluLeuSerLysLeuAspLysAlaAlaSerHisLeuArgGlnLeuMetAspGluProProAlaProGlySerProGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258005" }, { "coordinates": [ { "allele": "A", "end": 1503, "referenceAllele": "G", "start": 1502 } ], "gene": "http://reg.genome.network/gene/GN021642", "geneNCBI_id": 57176, "geneSymbol": "VARS2", "hgvs": [ "ENST00000469358.5:n.1503G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS312052" }, { "coordinates": [ { "allele": "A", "end": 441, "referenceAllele": "G", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN021642", "geneNCBI_id": 57176, "geneSymbol": "VARS2", "hgvs": [ "ENST00000476162.5:n.441G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS317286" }, { "coordinates": [ { "allele": "A", "end": 4196, "referenceAllele": "G", "start": 4195 } ], "gene": "http://reg.genome.network/gene/GN021642", "geneNCBI_id": 57176, "geneSymbol": "VARS2", "hgvs": [ "ENST00000477288.5:n.4196G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS318138" }, { "coordinates": [ { "allele": "A", "end": 1754, "referenceAllele": "G", "start": 1753 } ], "gene": "http://reg.genome.network/gene/GN021642", "geneNCBI_id": 57176, "geneSymbol": "VARS2", "hgvs": [ "ENST00000541562.5:c.1673G>A" ], "proteinEffect": { "hgvs": "ENSP00000441000.1:p.Trp558Ter", "hgvsWellDefined": "ENSP00000441000.1:p.Trp559_Leu1093delinsGlyHisGlnIleProAlaTyrLeuValValGluAspHisAlaGlnGlyGluGluAspCysTrpValValGlyArgSerGluAlaGluAlaArgGluValAlaAlaGluLeuThrGlyArgProGlyAlaGluLeuThrLeuGluArgAspProAspValLeuAspThrTrpPheSerSerAlaLeuPheProPheSerAlaLeuGlyTrpProGlnGluThrProAspLeuAlaArgPheTyrProLeuSerLeuLeuGluThrGlySerAspLeuLeuLeuPheTrpValGlyArgMetValMetLeuGlyThrGlnLeuThrGlyGlnLeuProPheSerLysValLeuLeuHisProMetValArgAspArgGlnGlyArgLysMetSerLysSerLeuGlyAsnValLeuAspProArgAspIleIleSerGlyValGluMetGlnValLeuGlnGluLysLeuArgSerGlyAsnLeuAspProAlaGluLeuAlaIleValAlaAlaAlaGlnLysLysAspPheProHisGlyIleProGluCysGlyThrAspAlaLeuArgPheThrLeuCysSerHisGlyValGlnAlaGlyAspLeuHisLeuSerValSerGluValGlnSerCysArgHisPheCysAsnLysIleTrpAsnAlaLeuArgPheIleLeuAsnAlaLeuGlyGluLysPheValProGlnProAlaGluGluLeuSerProSerSerProMetAspAlaTrpIleLeuSerArgLeuAlaLeuAlaAlaGlnGluCysGluArgGlyPheLeuThrArgGluLeuSerLeuValThrHisAlaLeuHisHisPheTrpLeuHisAsnLeuCysAspValTyrLeuGluAlaValLysProValLeuTrpHisSerProArgProLeuGlyProProGlnValLeuPheSerCysAlaAspLeuGlyLeuArgLeuLeuAlaProLeuMetProPheLeuAlaGluGluLeuTrpGlnArgLeuProProArgProGlyCysProProAlaProSerIleSerValAlaProTyrProSerAlaCysSerLeuGluHisTrpArgGlnProGluLeuGluArgArgPheSerArgValGlnGluValValGlnValLeuArgAlaLeuArgAlaThrTyrGlnLeuThrLysAlaArgProArgValLeuLeuGlnSerSerGluProGlyAspGlnGlyLeuPheGluAlaPheLeuGluProLeuGlyThrLeuGlyTyrCysGlyAlaValGlyLeuLeuProProGlyAlaAlaAlaProSerGlyTrpAlaGlnAlaProLeuSerAspThrAlaGlnValTyrMetGluLeuGlnGlyLeuValAspProGlnIleGlnLeuProLeuLeuAlaAlaArgArgTyrLysLeuGlnLysGlnLeuAspSerLeuThrAlaArgThrProSerGluGlyGluAlaGlyThrGlnArgGlnGlnLysLeuSerSerLeuGlnLeuGluLeuSerLysLeuAspLysAlaAlaSerHisLeuArgGlnLeuMetAspGluProProAlaProGlySerProGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS362987" }, { "coordinates": [ { "allele": "A", "end": 2209, "referenceAllele": "G", "start": 2208 } ], "gene": "http://reg.genome.network/gene/GN021642", "geneNCBI_id": 57176, "geneSymbol": "VARS2", "hgvs": [ "ENST00000542001.5:c.1577G>A" ], "proteinEffect": { "hgvs": "ENSP00000438200.2:p.Trp526Ter", "hgvsWellDefined": "ENSP00000438200.2:p.Trp527_Leu1061delinsGlyHisGlnIleProAlaTyrLeuValValGluAspHisAlaGlnGlyGluGluAspCysTrpValValGlyArgSerGluAlaGluAlaArgGluValAlaAlaGluLeuThrGlyArgProGlyAlaGluLeuThrLeuGluArgAspProAspValLeuAspThrTrpPheSerSerAlaLeuPheProPheSerAlaLeuGlyTrpProGlnGluThrProAspLeuAlaArgPheTyrProLeuSerLeuLeuGluThrGlySerAspLeuLeuLeuPheTrpValGlyArgMetValMetLeuGlyThrGlnLeuThrGlyGlnLeuProPheSerLysValLeuLeuHisProMetValArgAspArgGlnGlyArgLysMetSerLysSerLeuGlyAsnValLeuAspProArgAspIleIleSerGlyValGluMetGlnValLeuGlnGluLysLeuArgSerGlyAsnLeuAspProAlaGluLeuAlaIleValAlaAlaAlaGlnLysLysAspPheProHisGlyIleProGluCysGlyThrAspAlaLeuArgPheThrLeuCysSerHisGlyValGlnAlaGlyAspLeuHisLeuSerValSerGluValGlnSerCysArgHisPheCysAsnLysIleTrpAsnAlaLeuArgPheIleLeuAsnAlaLeuGlyGluLysPheValProGlnProAlaGluGluLeuSerProSerSerProMetAspAlaTrpIleLeuSerArgLeuAlaLeuAlaAlaGlnGluCysGluArgGlyPheLeuThrArgGluLeuSerLeuValThrHisAlaLeuHisHisPheTrpLeuHisAsnLeuCysAspValTyrLeuGluAlaValLysProValLeuTrpHisSerProArgProLeuGlyProProGlnValLeuPheSerCysAlaAspLeuGlyLeuArgLeuLeuAlaProLeuMetProPheLeuAlaGluGluLeuTrpGlnArgLeuProProArgProGlyCysProProAlaProSerIleSerValAlaProTyrProSerAlaCysSerLeuGluHisTrpArgGlnProGluLeuGluArgArgPheSerArgValGlnGluValValGlnValLeuArgAlaLeuArgAlaThrTyrGlnLeuThrLysAlaArgProArgValLeuLeuGlnSerSerGluProGlyAspGlnGlyLeuPheGluAlaPheLeuGluProLeuGlyThrLeuGlyTyrCysGlyAlaValGlyLeuLeuProProGlyAlaAlaAlaProSerGlyTrpAlaGlnAlaProLeuSerAspThrAlaGlnValTyrMetGluLeuGlnGlyLeuValAspProGlnIleGlnLeuProLeuLeuAlaAlaArgArgTyrLysLeuGlnLysGlnLeuAspSerLeuThrAlaArgThrProSerGluGlyGluAlaGlyThrGlnArgGlnGlnLysLeuSerSerLeuGlnLeuGluLeuSerLysLeuAspLysAlaAlaSerHisLeuArgGlnLeuMetAspGluProProAlaProGlySerProGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS363223" }, { "coordinates": [ { "allele": "A", "end": 1507, "referenceAllele": "G", "start": 1506 } ], "gene": "http://reg.genome.network/gene/GN021642", "geneNCBI_id": 57176, "geneSymbol": "VARS2", "hgvs": [ "ENST00000625423.2:c.1163G>A" ], "proteinEffect": { "hgvs": "ENSP00000485818.1:p.Trp388Ter", "hgvsWellDefined": "ENSP00000485818.1:p.Trp389_Leu923delinsGlyHisGlnIleProAlaTyrLeuValValGluAspHisAlaGlnGlyGluGluAspCysTrpValValGlyArgSerGluAlaGluAlaArgGluValAlaAlaGluLeuThrGlyArgProGlyAlaGluLeuThrLeuGluArgAspProAspValLeuAspThrTrpPheSerSerAlaLeuPheProPheSerAlaLeuGlyTrpProGlnGluThrProAspLeuAlaArgPheTyrProLeuSerLeuLeuGluThrGlySerAspLeuLeuLeuPheTrpValGlyArgMetValMetLeuGlyThrGlnLeuThrGlyGlnLeuProPheSerLysValLeuLeuHisProMetValArgAspArgGlnGlyArgLysMetSerLysSerLeuGlyAsnValLeuAspProArgAspIleIleSerGlyValGluMetGlnValLeuGlnGluLysLeuArgSerGlyAsnLeuAspProAlaGluLeuAlaIleValAlaAlaAlaGlnLysLysAspPheProHisGlyIleProGluCysGlyThrAspAlaLeuArgPheThrLeuCysSerHisGlyValGlnAlaGlyAspLeuHisLeuSerValSerGluValGlnSerCysArgHisPheCysAsnLysIleTrpAsnAlaLeuArgPheIleLeuAsnAlaLeuGlyGluLysPheValProGlnProAlaGluGluLeuSerProSerSerProMetAspAlaTrpIleLeuSerArgLeuAlaLeuAlaAlaGlnGluCysGluArgGlyPheLeuThrArgGluLeuSerLeuValThrHisAlaLeuHisHisPheTrpLeuHisAsnLeuCysAspValTyrLeuGluAlaValLysProValLeuTrpHisSerProArgProLeuGlyProProGlnValLeuPheSerCysAlaAspLeuGlyLeuArgLeuLeuAlaProLeuMetProPheLeuAlaGluGluLeuTrpGlnArgLeuProProArgProGlyCysProProAlaProSerIleSerValAlaProTyrProSerAlaCysSerLeuGluHisTrpArgGlnProGluLeuGluArgArgPheSerArgValGlnGluValValGlnValLeuArgAlaLeuArgAlaThrTyrGlnLeuThrLysAlaArgProArgValLeuLeuGlnSerSerGluProGlyAspGlnGlyLeuPheGluAlaPheLeuGluProLeuGlyThrLeuGlyTyrCysGlyAlaValGlyLeuLeuProProGlyAlaAlaAlaProSerGlyTrpAlaGlnAlaProLeuSerAspThrAlaGlnValTyrMetGluLeuGlnGlyLeuValAspProGlnIleGlnLeuProLeuLeuAlaAlaArgArgTyrLysLeuGlnLysGlnLeuAspSerLeuThrAlaArgThrProSerGluGlyGluAlaGlyThrGlnArgGlnGlnLysLeuSerSerLeuGlnLeuGluLeuSerLysLeuAspLysAlaAlaSerHisLeuArgGlnLeuMetAspGluProProAlaProGlySerProGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS406580" }, { "@id": "http://reg.genome.network/allele/PA2826049319", "coordinates": [ { "allele": "A", "end": 1519, "referenceAllele": "G", "start": 1518 } ], "gene": "http://reg.genome.network/gene/GN021642", "geneNCBI_id": 57176, "geneSymbol": "VARS2", "hgvs": [ "NM_001167733.2:c.1163G>A" ], "proteinEffect": { "hgvs": "NP_001161205.1:p.Trp388Ter", "hgvsWellDefined": "NP_001161205.1:p.Trp389_Leu923delinsGlyHisGlnIleProAlaTyrLeuValValGluAspHisAlaGlnGlyGluGluAspCysTrpValValGlyArgSerGluAlaGluAlaArgGluValAlaAlaGluLeuThrGlyArgProGlyAlaGluLeuThrLeuGluArgAspProAspValLeuAspThrTrpPheSerSerAlaLeuPheProPheSerAlaLeuGlyTrpProGlnGluThrProAspLeuAlaArgPheTyrProLeuSerLeuLeuGluThrGlySerAspLeuLeuLeuPheTrpValGlyArgMetValMetLeuGlyThrGlnLeuThrGlyGlnLeuProPheSerLysValLeuLeuHisProMetValArgAspArgGlnGlyArgLysMetSerLysSerLeuGlyAsnValLeuAspProArgAspIleIleSerGlyValGluMetGlnValLeuGlnGluLysLeuArgSerGlyAsnLeuAspProAlaGluLeuAlaIleValAlaAlaAlaGlnLysLysAspPheProHisGlyIleProGluCysGlyThrAspAlaLeuArgPheThrLeuCysSerHisGlyValGlnAlaGlyAspLeuHisLeuSerValSerGluValGlnSerCysArgHisPheCysAsnLysIleTrpAsnAlaLeuArgPheIleLeuAsnAlaLeuGlyGluLysPheValProGlnProAlaGluGluLeuSerProSerSerProMetAspAlaTrpIleLeuSerArgLeuAlaLeuAlaAlaGlnGluCysGluArgGlyPheLeuThrArgGluLeuSerLeuValThrHisAlaLeuHisHisPheTrpLeuHisAsnLeuCysAspValTyrLeuGluAlaValLysProValLeuTrpHisSerProArgProLeuGlyProProGlnValLeuPheSerCysAlaAspLeuGlyLeuArgLeuLeuAlaProLeuMetProPheLeuAlaGluGluLeuTrpGlnArgLeuProProArgProGlyCysProProAlaProSerIleSerValAlaProTyrProSerAlaCysSerLeuGluHisTrpArgGlnProGluLeuGluArgArgPheSerArgValGlnGluValValGlnValLeuArgAlaLeuArgAlaThrTyrGlnLeuThrLysAlaArgProArgValLeuLeuGlnSerSerGluProGlyAspGlnGlyLeuPheGluAlaPheLeuGluProLeuGlyThrLeuGlyTyrCysGlyAlaValGlyLeuLeuProProGlyAlaAlaAlaProSerGlyTrpAlaGlnAlaProLeuSerAspThrAlaGlnValTyrMetGluLeuGlnGlyLeuValAspProGlnIleGlnLeuProLeuLeuAlaAlaArgArgTyrLysLeuGlnLysGlnLeuAspSerLeuThrAlaArgThrProSerGluGlyGluAlaGlyThrGlnArgGlnGlnLysLeuSerSerLeuGlnLeuGluLeuSerLysLeuAspLysAlaAlaSerHisLeuArgGlnLeuMetAspGluProProAlaProGlySerProGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014987" }, { "@id": "http://reg.genome.network/allele/PA2580154729", "coordinates": [ { "allele": "A", "end": 1754, "referenceAllele": "G", "start": 1753 } ], "gene": "http://reg.genome.network/gene/GN021642", "geneNCBI_id": 57176, "geneSymbol": "VARS2", "hgvs": [ "NM_001167734.1:c.1673G>A" ], "proteinEffect": { "hgvs": "NP_001161206.1:p.Trp558Ter", "hgvsWellDefined": "NP_001161206.1:p.Trp559_Leu1093delinsGlyHisGlnIleProAlaTyrLeuValValGluAspHisAlaGlnGlyGluGluAspCysTrpValValGlyArgSerGluAlaGluAlaArgGluValAlaAlaGluLeuThrGlyArgProGlyAlaGluLeuThrLeuGluArgAspProAspValLeuAspThrTrpPheSerSerAlaLeuPheProPheSerAlaLeuGlyTrpProGlnGluThrProAspLeuAlaArgPheTyrProLeuSerLeuLeuGluThrGlySerAspLeuLeuLeuPheTrpValGlyArgMetValMetLeuGlyThrGlnLeuThrGlyGlnLeuProPheSerLysValLeuLeuHisProMetValArgAspArgGlnGlyArgLysMetSerLysSerLeuGlyAsnValLeuAspProArgAspIleIleSerGlyValGluMetGlnValLeuGlnGluLysLeuArgSerGlyAsnLeuAspProAlaGluLeuAlaIleValAlaAlaAlaGlnLysLysAspPheProHisGlyIleProGluCysGlyThrAspAlaLeuArgPheThrLeuCysSerHisGlyValGlnAlaGlyAspLeuHisLeuSerValSerGluValGlnSerCysArgHisPheCysAsnLysIleTrpAsnAlaLeuArgPheIleLeuAsnAlaLeuGlyGluLysPheValProGlnProAlaGluGluLeuSerProSerSerProMetAspAlaTrpIleLeuSerArgLeuAlaLeuAlaAlaGlnGluCysGluArgGlyPheLeuThrArgGluLeuSerLeuValThrHisAlaLeuHisHisPheTrpLeuHisAsnLeuCysAspValTyrLeuGluAlaValLysProValLeuTrpHisSerProArgProLeuGlyProProGlnValLeuPheSerCysAlaAspLeuGlyLeuArgLeuLeuAlaProLeuMetProPheLeuAlaGluGluLeuTrpGlnArgLeuProProArgProGlyCysProProAlaProSerIleSerValAlaProTyrProSerAlaCysSerLeuGluHisTrpArgGlnProGluLeuGluArgArgPheSerArgValGlnGluValValGlnValLeuArgAlaLeuArgAlaThrTyrGlnLeuThrLysAlaArgProArgValLeuLeuGlnSerSerGluProGlyAspGlnGlyLeuPheGluAlaPheLeuGluProLeuGlyThrLeuGlyTyrCysGlyAlaValGlyLeuLeuProProGlyAlaAlaAlaProSerGlyTrpAlaGlnAlaProLeuSerAspThrAlaGlnValTyrMetGluLeuGlnGlyLeuValAspProGlnIleGlnLeuProLeuLeuAlaAlaArgArgTyrLysLeuGlnLysGlnLeuAspSerLeuThrAlaArgThrProSerGluGlyGluAlaGlyThrGlnArgGlnGlnLysLeuSerSerLeuGlnLeuGluLeuSerLysLeuAspLysAlaAlaSerHisLeuArgGlnLeuMetAspGluProProAlaProGlySerProGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014988" }, { "@id": "http://reg.genome.network/allele/PA2829938436", "coordinates": [ { "allele": "A", "end": 1747, "referenceAllele": "G", "start": 1746 } ], "gene": "http://reg.genome.network/gene/GN021642", "geneNCBI_id": 57176, "geneSymbol": "VARS2", "hgvs": [ "NM_020442.5:c.1583G>A" ], "proteinEffect": { "hgvs": "NP_065175.4:p.Trp528Ter", "hgvsWellDefined": "NP_065175.4:p.Trp529_Leu1063delinsGlyHisGlnIleProAlaTyrLeuValValGluAspHisAlaGlnGlyGluGluAspCysTrpValValGlyArgSerGluAlaGluAlaArgGluValAlaAlaGluLeuThrGlyArgProGlyAlaGluLeuThrLeuGluArgAspProAspValLeuAspThrTrpPheSerSerAlaLeuPheProPheSerAlaLeuGlyTrpProGlnGluThrProAspLeuAlaArgPheTyrProLeuSerLeuLeuGluThrGlySerAspLeuLeuLeuPheTrpValGlyArgMetValMetLeuGlyThrGlnLeuThrGlyGlnLeuProPheSerLysValLeuLeuHisProMetValArgAspArgGlnGlyArgLysMetSerLysSerLeuGlyAsnValLeuAspProArgAspIleIleSerGlyValGluMetGlnValLeuGlnGluLysLeuArgSerGlyAsnLeuAspProAlaGluLeuAlaIleValAlaAlaAlaGlnLysLysAspPheProHisGlyIleProGluCysGlyThrAspAlaLeuArgPheThrLeuCysSerHisGlyValGlnAlaGlyAspLeuHisLeuSerValSerGluValGlnSerCysArgHisPheCysAsnLysIleTrpAsnAlaLeuArgPheIleLeuAsnAlaLeuGlyGluLysPheValProGlnProAlaGluGluLeuSerProSerSerProMetAspAlaTrpIleLeuSerArgLeuAlaLeuAlaAlaGlnGluCysGluArgGlyPheLeuThrArgGluLeuSerLeuValThrHisAlaLeuHisHisPheTrpLeuHisAsnLeuCysAspValTyrLeuGluAlaValLysProValLeuTrpHisSerProArgProLeuGlyProProGlnValLeuPheSerCysAlaAspLeuGlyLeuArgLeuLeuAlaProLeuMetProPheLeuAlaGluGluLeuTrpGlnArgLeuProProArgProGlyCysProProAlaProSerIleSerValAlaProTyrProSerAlaCysSerLeuGluHisTrpArgGlnProGluLeuGluArgArgPheSerArgValGlnGluValValGlnValLeuArgAlaLeuArgAlaThrTyrGlnLeuThrLysAlaArgProArgValLeuLeuGlnSerSerGluProGlyAspGlnGlyLeuPheGluAlaPheLeuGluProLeuGlyThrLeuGlyTyrCysGlyAlaValGlyLeuLeuProProGlyAlaAlaAlaProSerGlyTrpAlaGlnAlaProLeuSerAspThrAlaGlnValTyrMetGluLeuGlnGlyLeuValAspProGlnIleGlnLeuProLeuLeuAlaAlaArgArgTyrLysLeuGlnLysGlnLeuAspSerLeuThrAlaArgThrProSerGluGlyGluAlaGlyThrGlnArgGlnGlnLysLeuSerSerLeuGlnLeuGluLeuSerLysLeuAspLysAlaAlaSerHisLeuArgGlnLeuMetAspGluProProAlaProGlySerProGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036410" }, { "@id": "http://reg.genome.network/allele/PA2826049319", "coordinates": [ { "allele": "A", "end": 1489, "referenceAllele": "G", "start": 1488 } ], "gene": "http://reg.genome.network/gene/GN021642", "geneNCBI_id": 57176, "geneSymbol": "VARS2", "hgvs": [ "NM_001167733.3:c.1163G>A" ], "proteinEffect": { "hgvs": "NP_001161205.1:p.Trp388Ter", "hgvsWellDefined": "NP_001161205.1:p.Trp389_Leu923delinsGlyHisGlnIleProAlaTyrLeuValValGluAspHisAlaGlnGlyGluGluAspCysTrpValValGlyArgSerGluAlaGluAlaArgGluValAlaAlaGluLeuThrGlyArgProGlyAlaGluLeuThrLeuGluArgAspProAspValLeuAspThrTrpPheSerSerAlaLeuPheProPheSerAlaLeuGlyTrpProGlnGluThrProAspLeuAlaArgPheTyrProLeuSerLeuLeuGluThrGlySerAspLeuLeuLeuPheTrpValGlyArgMetValMetLeuGlyThrGlnLeuThrGlyGlnLeuProPheSerLysValLeuLeuHisProMetValArgAspArgGlnGlyArgLysMetSerLysSerLeuGlyAsnValLeuAspProArgAspIleIleSerGlyValGluMetGlnValLeuGlnGluLysLeuArgSerGlyAsnLeuAspProAlaGluLeuAlaIleValAlaAlaAlaGlnLysLysAspPheProHisGlyIleProGluCysGlyThrAspAlaLeuArgPheThrLeuCysSerHisGlyValGlnAlaGlyAspLeuHisLeuSerValSerGluValGlnSerCysArgHisPheCysAsnLysIleTrpAsnAlaLeuArgPheIleLeuAsnAlaLeuGlyGluLysPheValProGlnProAlaGluGluLeuSerProSerSerProMetAspAlaTrpIleLeuSerArgLeuAlaLeuAlaAlaGlnGluCysGluArgGlyPheLeuThrArgGluLeuSerLeuValThrHisAlaLeuHisHisPheTrpLeuHisAsnLeuCysAspValTyrLeuGluAlaValLysProValLeuTrpHisSerProArgProLeuGlyProProGlnValLeuPheSerCysAlaAspLeuGlyLeuArgLeuLeuAlaProLeuMetProPheLeuAlaGluGluLeuTrpGlnArgLeuProProArgProGlyCysProProAlaProSerIleSerValAlaProTyrProSerAlaCysSerLeuGluHisTrpArgGlnProGluLeuGluArgArgPheSerArgValGlnGluValValGlnValLeuArgAlaLeuArgAlaThrTyrGlnLeuThrLysAlaArgProArgValLeuLeuGlnSerSerGluProGlyAspGlnGlyLeuPheGluAlaPheLeuGluProLeuGlyThrLeuGlyTyrCysGlyAlaValGlyLeuLeuProProGlyAlaAlaAlaProSerGlyTrpAlaGlnAlaProLeuSerAspThrAlaGlnValTyrMetGluLeuGlnGlyLeuValAspProGlnIleGlnLeuProLeuLeuAlaAlaArgArgTyrLysLeuGlnLysGlnLeuAspSerLeuThrAlaArgThrProSerGluGlyGluAlaGlyThrGlnArgGlnGlnLysLeuSerSerLeuGlnLeuGluLeuSerLysLeuAspLysAlaAlaSerHisLeuArgGlnLeuMetAspGluProProAlaProGlySerProGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713249" }, { "@id": "http://reg.genome.network/allele/PA2580154729", "coordinates": [ { "allele": "A", "end": 1847, "referenceAllele": "G", "start": 1846 } ], "gene": "http://reg.genome.network/gene/GN021642", "geneNCBI_id": 57176, "geneSymbol": "VARS2", "hgvs": [ "NM_001167734.2:c.1673G>A" ], "proteinEffect": { "hgvs": "NP_001161206.1:p.Trp558Ter", "hgvsWellDefined": "NP_001161206.1:p.Trp559_Leu1093delinsGlyHisGlnIleProAlaTyrLeuValValGluAspHisAlaGlnGlyGluGluAspCysTrpValValGlyArgSerGluAlaGluAlaArgGluValAlaAlaGluLeuThrGlyArgProGlyAlaGluLeuThrLeuGluArgAspProAspValLeuAspThrTrpPheSerSerAlaLeuPheProPheSerAlaLeuGlyTrpProGlnGluThrProAspLeuAlaArgPheTyrProLeuSerLeuLeuGluThrGlySerAspLeuLeuLeuPheTrpValGlyArgMetValMetLeuGlyThrGlnLeuThrGlyGlnLeuProPheSerLysValLeuLeuHisProMetValArgAspArgGlnGlyArgLysMetSerLysSerLeuGlyAsnValLeuAspProArgAspIleIleSerGlyValGluMetGlnValLeuGlnGluLysLeuArgSerGlyAsnLeuAspProAlaGluLeuAlaIleValAlaAlaAlaGlnLysLysAspPheProHisGlyIleProGluCysGlyThrAspAlaLeuArgPheThrLeuCysSerHisGlyValGlnAlaGlyAspLeuHisLeuSerValSerGluValGlnSerCysArgHisPheCysAsnLysIleTrpAsnAlaLeuArgPheIleLeuAsnAlaLeuGlyGluLysPheValProGlnProAlaGluGluLeuSerProSerSerProMetAspAlaTrpIleLeuSerArgLeuAlaLeuAlaAlaGlnGluCysGluArgGlyPheLeuThrArgGluLeuSerLeuValThrHisAlaLeuHisHisPheTrpLeuHisAsnLeuCysAspValTyrLeuGluAlaValLysProValLeuTrpHisSerProArgProLeuGlyProProGlnValLeuPheSerCysAlaAspLeuGlyLeuArgLeuLeuAlaProLeuMetProPheLeuAlaGluGluLeuTrpGlnArgLeuProProArgProGlyCysProProAlaProSerIleSerValAlaProTyrProSerAlaCysSerLeuGluHisTrpArgGlnProGluLeuGluArgArgPheSerArgValGlnGluValValGlnValLeuArgAlaLeuArgAlaThrTyrGlnLeuThrLysAlaArgProArgValLeuLeuGlnSerSerGluProGlyAspGlnGlyLeuPheGluAlaPheLeuGluProLeuGlyThrLeuGlyTyrCysGlyAlaValGlyLeuLeuProProGlyAlaAlaAlaProSerGlyTrpAlaGlnAlaProLeuSerAspThrAlaGlnValTyrMetGluLeuGlnGlyLeuValAspProGlnIleGlnLeuProLeuLeuAlaAlaArgArgTyrLysLeuGlnLysGlnLeuAspSerLeuThrAlaArgThrProSerGluGlyGluAlaGlyThrGlnArgGlnGlnLysLeuSerSerLeuGlnLeuGluLeuSerLysLeuAspLysAlaAlaSerHisLeuArgGlnLeuMetAspGluProProAlaProGlySerProGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713250" }, { "@id": "http://reg.genome.network/allele/PA2829938436", "coordinates": [ { "allele": "A", "end": 1717, "referenceAllele": "G", "start": 1716 } ], "gene": "http://reg.genome.network/gene/GN021642", "geneNCBI_id": 57176, "geneSymbol": "VARS2", "hgvs": [ "NM_020442.6:c.1583G>A" ], "proteinEffect": { "hgvs": "NP_065175.4:p.Trp528Ter", "hgvsWellDefined": "NP_065175.4:p.Trp529_Leu1063delinsGlyHisGlnIleProAlaTyrLeuValValGluAspHisAlaGlnGlyGluGluAspCysTrpValValGlyArgSerGluAlaGluAlaArgGluValAlaAlaGluLeuThrGlyArgProGlyAlaGluLeuThrLeuGluArgAspProAspValLeuAspThrTrpPheSerSerAlaLeuPheProPheSerAlaLeuGlyTrpProGlnGluThrProAspLeuAlaArgPheTyrProLeuSerLeuLeuGluThrGlySerAspLeuLeuLeuPheTrpValGlyArgMetValMetLeuGlyThrGlnLeuThrGlyGlnLeuProPheSerLysValLeuLeuHisProMetValArgAspArgGlnGlyArgLysMetSerLysSerLeuGlyAsnValLeuAspProArgAspIleIleSerGlyValGluMetGlnValLeuGlnGluLysLeuArgSerGlyAsnLeuAspProAlaGluLeuAlaIleValAlaAlaAlaGlnLysLysAspPheProHisGlyIleProGluCysGlyThrAspAlaLeuArgPheThrLeuCysSerHisGlyValGlnAlaGlyAspLeuHisLeuSerValSerGluValGlnSerCysArgHisPheCysAsnLysIleTrpAsnAlaLeuArgPheIleLeuAsnAlaLeuGlyGluLysPheValProGlnProAlaGluGluLeuSerProSerSerProMetAspAlaTrpIleLeuSerArgLeuAlaLeuAlaAlaGlnGluCysGluArgGlyPheLeuThrArgGluLeuSerLeuValThrHisAlaLeuHisHisPheTrpLeuHisAsnLeuCysAspValTyrLeuGluAlaValLysProValLeuTrpHisSerProArgProLeuGlyProProGlnValLeuPheSerCysAlaAspLeuGlyLeuArgLeuLeuAlaProLeuMetProPheLeuAlaGluGluLeuTrpGlnArgLeuProProArgProGlyCysProProAlaProSerIleSerValAlaProTyrProSerAlaCysSerLeuGluHisTrpArgGlnProGluLeuGluArgArgPheSerArgValGlnGluValValGlnValLeuArgAlaLeuArgAlaThrTyrGlnLeuThrLysAlaArgProArgValLeuLeuGlnSerSerGluProGlyAspGlnGlyLeuPheGluAlaPheLeuGluProLeuGlyThrLeuGlyTyrCysGlyAlaValGlyLeuLeuProProGlyAlaAlaAlaProSerGlyTrpAlaGlnAlaProLeuSerAspThrAlaGlnValTyrMetGluLeuGlnGlyLeuValAspProGlnIleGlnLeuProLeuLeuAlaAlaArgArgTyrLysLeuGlnLysGlnLeuAspSerLeuThrAlaArgThrProSerGluGlyGluAlaGlyThrGlnArgGlnGlnLysLeuSerSerLeuGlnLeuGluLeuSerLysLeuAspLysAlaAlaSerHisLeuArgGlnLeuMetAspGluProProAlaProGlySerProGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728435", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000676266.1:c.1583G>A" }, "RefSeq": { "hgvs": "NM_020442.6:c.1583G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000502585.1:p.Trp528Ter" }, "RefSeq": { "hgvs": "NP_065175.4:p.Trp528Ter" } } } } ], "type": "nucleotide" }