{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16042659", "communityStandardTitle": [ "NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=359762[alleleid]", "alleleId": 359762, "preferredName": "NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/373443", "RCV": [ "RCV000412798", "RCV000626800" ], "variationId": 373443 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.149700090C>T?assembly=hg19", "id": "chr6:g.149700090C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.149378954C>T?assembly=hg38", "id": "chr6:g.149378954C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518422", "rs": 1057518422 } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 149378954, "referenceAllele": "C", "start": 149378953 } ], "hgvs": [ "NC_000006.12:g.149378954C>T", "CM000668.2:g.149378954C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 149700090, "referenceAllele": "C", "start": 149700089 } ], "hgvs": [ "NC_000006.11:g.149700090C>T", "CM000668.1:g.149700090C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 149741783, "referenceAllele": "C", "start": 149741782 } ], "hgvs": [ "NC_000006.10:g.149741783C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "T", "end": 65655, "referenceAllele": "C", "start": 65654 } ], "hgvs": [ "NG_021386.1:g.65655C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003614" }, { "coordinates": [ { "allele": "T", "end": 166031, "referenceAllele": "C", "start": 166030 } ], "hgvs": [ "NG_021386.2:g.166031C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616253" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1454, "referenceAllele": "C", "start": 1453 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "ENST00000703212.1:n.1454C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911627" }, { "coordinates": [ { "allele": "T", "end": 1447, "referenceAllele": "C", "start": 1446 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "ENST00000703213.1:c.1039C>T" ], "proteinEffect": { "hgvs": "ENSP00000515239.1:p.Arg347Ter", "hgvsWellDefined": "ENSP00000515239.1:p.Arg347Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS911628" }, { "coordinates": [ { "allele": "T", "end": 373, "referenceAllele": "C", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "ENST00000636456.1:c.187C>T" ], "proteinEffect": { "hgvs": "ENSP00000490379.1:p.Arg63Ter", "hgvsWellDefined": "ENSP00000490379.1:p.Arg63_Phe409delinsThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763127" }, { "coordinates": [ { "allele": "T", "end": 1432, "referenceAllele": "C", "start": 1431 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "ENST00000637181.2:c.1039C>T" ], "proteinEffect": { "hgvs": "ENSP00000490618.1:p.Arg347Ter", "hgvsWellDefined": "ENSP00000490618.1:p.Arg347_Phe693delinsThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763671", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000637181.2:c.1039C>T" }, "RefSeq": { "hgvs": "NM_001292034.3:c.1039C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000490618.1:p.Arg347Ter" }, "RefSeq": { "hgvs": "NP_001278963.1:p.Arg347Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1616, "referenceAllele": "C", "start": 1615 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "ENST00000367456.5:c.1039C>T" ], "proteinEffect": { "hgvs": "ENSP00000356426.1:p.Arg347Ter", "hgvsWellDefined": "ENSP00000356426.1:p.Arg347_Phe693delinsThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266399" }, { "coordinates": [ { "allele": "T", "end": 1149, "referenceAllele": "C", "start": 1148 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "ENST00000470466.5:c.1039C>T" ], "proteinEffect": { "hgvs": "ENSP00000432709.1:p.Arg347Ter", "hgvsWellDefined": "ENSP00000432709.1:p.Arg347_Ile536delinsThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS312894" }, { "coordinates": [ { "allele": "T", "end": 1305, "referenceAllele": "C", "start": 1304 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "ENST00000538427.5:c.1039C>T" ], "proteinEffect": { "hgvs": "ENSP00000445752.1:p.Arg347Ter", "hgvsWellDefined": "ENSP00000445752.1:p.Arg347_Phe693delinsThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS361319" }, { "@id": "http://reg.genome.network/allele/PA2826819912", "coordinates": [ { "allele": "T", "end": 1217, "referenceAllele": "C", "start": 1216 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "NM_001292034.2:c.1039C>T" ], "proteinEffect": { "hgvs": "NP_001278963.1:p.Arg347Ter", "hgvsWellDefined": "NP_001278963.1:p.Arg347_Phe693delinsThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024452" }, { "@id": "http://reg.genome.network/allele/PA2826820096", "coordinates": [ { "allele": "T", "end": 1252, "referenceAllele": "C", "start": 1251 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "NM_001292035.2:c.943C>T" ], "proteinEffect": { "hgvs": "NP_001278964.1:p.Arg315Ter", "hgvsWellDefined": "NP_001278964.1:p.Arg315_Phe661delinsThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024453" }, { "@id": "http://reg.genome.network/allele/PA645429907", "coordinates": [ { "allele": "T", "end": 1460, "referenceAllele": "C", "start": 1459 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "NM_015093.5:c.1039C>T" ], "proteinEffect": { "hgvs": "NP_055908.1:p.Arg347Ter", "hgvsWellDefined": "NP_055908.1:p.Arg347_Phe693delinsThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033737" }, { "coordinates": [ { "allele": "T", "end": 1454, "referenceAllele": "C", "start": 1453 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "XM_006715403.2:c.1039C>T" ], "proteinEffect": { "hgvs": "XP_006715466.1:p.Arg347Ter", "hgvsWellDefined": "XP_006715466.1:p.Arg347_Phe693delinsThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071136" }, { "coordinates": [ { "allele": "T", "end": 1611, "referenceAllele": "C", "start": 1610 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "XM_011535633.1:c.1039C>T" ], "proteinEffect": { "hgvs": "XP_011533935.1:p.Arg347Ter", "hgvsWellDefined": "XP_011533935.1:p.Arg347_Phe693delinsThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102636" }, { "coordinates": [ { "allele": "T", "end": 1367, "referenceAllele": "C", "start": 1366 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "XM_011535634.1:c.1039C>T" ], "proteinEffect": { "hgvs": "XP_011533936.1:p.Arg347Ter", "hgvsWellDefined": "XP_011533936.1:p.Arg347_Phe693delinsThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102637" }, { "coordinates": [ { "allele": "T", "end": 1899, "referenceAllele": "C", "start": 1898 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "XM_011535633.2:c.1039C>T" ], "proteinEffect": { "hgvs": "XP_011533935.1:p.Arg347Ter", "hgvsWellDefined": "XP_011533935.1:p.Arg347_Phe693delinsThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552108" }, { "coordinates": [ { "allele": "T", "end": 1430, "referenceAllele": "C", "start": 1429 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "XM_017010591.1:c.1039C>T" ], "proteinEffect": { "hgvs": "XP_016866080.1:p.Arg347Ter", "hgvsWellDefined": "XP_016866080.1:p.Arg347_Phe693delinsThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564618" }, { "coordinates": [ { "allele": "T", "end": 1967, "referenceAllele": "C", "start": 1966 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "XM_017010592.2:c.1039C>T" ], "proteinEffect": { "hgvs": "XP_016866081.1:p.Arg347Ter", "hgvsWellDefined": "XP_016866081.1:p.Arg347_Phe693delinsThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564619" }, { "@id": "http://reg.genome.network/allele/PA2826819912", "coordinates": [ { "allele": "T", "end": 1432, "referenceAllele": "C", "start": 1431 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "NM_001292034.3:c.1039C>T" ], "proteinEffect": { "hgvs": "NP_001278963.1:p.Arg347Ter", "hgvsWellDefined": "NP_001278963.1:p.Arg347_Phe693delinsThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664268", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000637181.2:c.1039C>T" }, "RefSeq": { "hgvs": "NM_001292034.3:c.1039C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000490618.1:p.Arg347Ter" }, "RefSeq": { "hgvs": "NP_001278963.1:p.Arg347Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826820096", "coordinates": [ { "allele": "T", "end": 1250, "referenceAllele": "C", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "NM_001292035.3:c.943C>T" ], "proteinEffect": { "hgvs": "NP_001278964.1:p.Arg315Ter", "hgvsWellDefined": "NP_001278964.1:p.Arg315_Phe661delinsThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682956" }, { "@id": "http://reg.genome.network/allele/PA2828334038", "coordinates": [ { "allele": "T", "end": 1581, "referenceAllele": "C", "start": 1580 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "NM_001369506.1:c.1039C>T" ], "proteinEffect": { "hgvs": "NP_001356435.1:p.Arg347Ter", "hgvsWellDefined": "NP_001356435.1:p.Arg347_Phe693delinsThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691726" }, { "@id": "http://reg.genome.network/allele/PA645429907", "coordinates": [ { "allele": "T", "end": 1460, "referenceAllele": "C", "start": 1459 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "NM_015093.6:c.1039C>T" ], "proteinEffect": { "hgvs": "NP_055908.1:p.Arg347Ter", "hgvsWellDefined": "NP_055908.1:p.Arg347_Phe693delinsThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728032" } ], "type": "nucleotide" }