{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA365997025", "communityStandardTitle": [ "NM_001292034.3(TAB2):c.814C>T (p.Gln272Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1315427[alleleid]", "alleleId": 1315427, "preferredName": "NM_001292034.3(TAB2):c.814C>T (p.Gln272Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1325168", "RCV": [ "RCV001783844" ], "variationId": 1325168 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.149699865C>T?assembly=hg19", "id": "chr6:g.149699865C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.149378729C>T?assembly=hg38", "id": "chr6:g.149378729C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2114885325", "rs": 2114885325 } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 149378729, 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"T", "end": 165806, "referenceAllele": "C", "start": 165805 } ], "hgvs": [ "NG_021386.2:g.165806C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616253" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1229, "referenceAllele": "C", "start": 1228 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "ENST00000703212.1:n.1229C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911627" }, { "coordinates": [ { "allele": "T", "end": 1222, "referenceAllele": "C", "start": 1221 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "ENST00000703213.1:c.814C>T" ], "proteinEffect": { "hgvs": "ENSP00000515239.1:p.Gln272Ter", "hgvsWellDefined": "ENSP00000515239.1:p.Gln272Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS911628" }, { "coordinates": [ { "allele": "T", "end": 148, "referenceAllele": "C", "start": 147 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "ENST00000636456.1:c.-39C>T" ], "proteinEffect": { "hgvs": "ENSP00000490379.1:n.-39C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS763127" }, { "coordinates": [ { "allele": "T", "end": 1207, "referenceAllele": "C", "start": 1206 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "ENST00000637181.2:c.814C>T" ], "proteinEffect": { "hgvs": "ENSP00000490618.1:p.Gln272Ter", "hgvsWellDefined": "ENSP00000490618.1:p.Gln272_Phe693delinsProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763671", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000637181.2:c.814C>T" }, "RefSeq": { "hgvs": "NM_001292034.3:c.814C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000490618.1:p.Gln272Ter" }, "RefSeq": { "hgvs": "NP_001278963.1:p.Gln272Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1391, "referenceAllele": "C", "start": 1390 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "ENST00000367456.5:c.814C>T" ], "proteinEffect": { "hgvs": "ENSP00000356426.1:p.Gln272Ter", "hgvsWellDefined": "ENSP00000356426.1:p.Gln272_Phe693delinsProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266399" }, { "coordinates": [ { "allele": "T", "end": 924, "referenceAllele": "C", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "ENST00000470466.5:c.814C>T" ], "proteinEffect": { "hgvs": "ENSP00000432709.1:p.Gln272Ter", "hgvsWellDefined": "ENSP00000432709.1:p.Gln272_Ile536delinsProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS312894" }, { "coordinates": [ { "allele": "T", "end": 1080, "referenceAllele": "C", "start": 1079 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "ENST00000538427.5:c.814C>T" ], "proteinEffect": { "hgvs": "ENSP00000445752.1:p.Gln272Ter", "hgvsWellDefined": "ENSP00000445752.1:p.Gln272_Phe693delinsProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS361319" }, { "@id": "http://reg.genome.network/allele/PA2826819887", "coordinates": [ { "allele": "T", "end": 992, "referenceAllele": "C", "start": 991 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "NM_001292034.2:c.814C>T" ], "proteinEffect": { "hgvs": "NP_001278963.1:p.Gln272Ter", "hgvsWellDefined": "NP_001278963.1:p.Gln272_Phe693delinsProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024452" }, { "@id": "http://reg.genome.network/allele/PA2826820072", "coordinates": [ { "allele": "T", "end": 1027, "referenceAllele": "C", "start": 1026 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "NM_001292035.2:c.718C>T" ], "proteinEffect": { "hgvs": "NP_001278964.1:p.Gln240Ter", "hgvsWellDefined": "NP_001278964.1:p.Gln240_Phe661delinsProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024453" }, { "@id": "http://reg.genome.network/allele/PA2573091350", "coordinates": [ { "allele": "T", "end": 1235, "referenceAllele": "C", "start": 1234 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "NM_015093.5:c.814C>T" ], "proteinEffect": { "hgvs": "NP_055908.1:p.Gln272Ter", "hgvsWellDefined": "NP_055908.1:p.Gln272_Phe693delinsProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033737" }, { "coordinates": [ { "allele": "T", "end": 1229, "referenceAllele": "C", "start": 1228 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "XM_006715403.2:c.814C>T" ], "proteinEffect": { "hgvs": "XP_006715466.1:p.Gln272Ter", "hgvsWellDefined": "XP_006715466.1:p.Gln272_Phe693delinsProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071136" }, { "coordinates": [ { "allele": "T", "end": 1386, "referenceAllele": "C", "start": 1385 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "XM_011535633.1:c.814C>T" ], "proteinEffect": { "hgvs": "XP_011533935.1:p.Gln272Ter", "hgvsWellDefined": "XP_011533935.1:p.Gln272_Phe693delinsProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102636" }, { "coordinates": [ { "allele": "T", "end": 1142, "referenceAllele": "C", "start": 1141 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "XM_011535634.1:c.814C>T" ], "proteinEffect": { "hgvs": "XP_011533936.1:p.Gln272Ter", "hgvsWellDefined": "XP_011533936.1:p.Gln272_Phe693delinsProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102637" }, { "coordinates": [ { "allele": "T", "end": 1674, "referenceAllele": "C", "start": 1673 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "XM_011535633.2:c.814C>T" ], "proteinEffect": { "hgvs": "XP_011533935.1:p.Gln272Ter", "hgvsWellDefined": "XP_011533935.1:p.Gln272_Phe693delinsProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552108" }, { "coordinates": [ { "allele": "T", "end": 1205, "referenceAllele": "C", "start": 1204 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "XM_017010591.1:c.814C>T" ], "proteinEffect": { "hgvs": "XP_016866080.1:p.Gln272Ter", "hgvsWellDefined": "XP_016866080.1:p.Gln272_Phe693delinsProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564618" }, { "coordinates": [ { "allele": "T", "end": 1742, "referenceAllele": "C", "start": 1741 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "XM_017010592.2:c.814C>T" ], "proteinEffect": { "hgvs": "XP_016866081.1:p.Gln272Ter", "hgvsWellDefined": "XP_016866081.1:p.Gln272_Phe693delinsProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564619" }, { "@id": "http://reg.genome.network/allele/PA2826819887", "coordinates": [ { "allele": "T", "end": 1207, "referenceAllele": "C", "start": 1206 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "NM_001292034.3:c.814C>T" ], "proteinEffect": { "hgvs": "NP_001278963.1:p.Gln272Ter", "hgvsWellDefined": "NP_001278963.1:p.Gln272_Phe693delinsProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664268", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000637181.2:c.814C>T" }, "RefSeq": { "hgvs": "NM_001292034.3:c.814C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000490618.1:p.Gln272Ter" }, "RefSeq": { "hgvs": "NP_001278963.1:p.Gln272Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826820072", "coordinates": [ { "allele": "T", "end": 1025, "referenceAllele": "C", "start": 1024 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "NM_001292035.3:c.718C>T" ], "proteinEffect": { "hgvs": "NP_001278964.1:p.Gln240Ter", "hgvsWellDefined": "NP_001278964.1:p.Gln240_Phe661delinsProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682956" }, { "@id": "http://reg.genome.network/allele/PA2828334013", "coordinates": [ { "allele": "T", "end": 1356, "referenceAllele": "C", "start": 1355 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "NM_001369506.1:c.814C>T" ], "proteinEffect": { "hgvs": "NP_001356435.1:p.Gln272Ter", "hgvsWellDefined": "NP_001356435.1:p.Gln272_Phe693delinsProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691726" }, { "@id": "http://reg.genome.network/allele/PA2573091350", "coordinates": [ { "allele": "T", "end": 1235, "referenceAllele": "C", "start": 1234 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "NM_015093.6:c.814C>T" ], "proteinEffect": { "hgvs": "NP_055908.1:p.Gln272Ter", "hgvsWellDefined": "NP_055908.1:p.Gln272_Phe693delinsProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728032" } ], "type": "nucleotide" }