{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16042635", "communityStandardTitle": [ "NM_001292034.3(TAB2):c.403C>T (p.Gln135Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=359730[alleleid]", "alleleId": 359730, "preferredName": "NM_001292034.3(TAB2):c.403C>T (p.Gln135Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372702", "RCV": [ "RCV000413501" ], "variationId": 372702 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.149699454C>T?assembly=hg19", "id": "chr6:g.149699454C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.149378318C>T?assembly=hg38", "id": "chr6:g.149378318C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517934", "rs": 1057517934 } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 149378318, "referenceAllele": "C", "start": 149378317 } ], "hgvs": [ "NC_000006.12:g.149378318C>T", "CM000668.2:g.149378318C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 149699454, "referenceAllele": "C", "start": 149699453 } ], "hgvs": [ "NC_000006.11:g.149699454C>T", "CM000668.1:g.149699454C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 149741147, "referenceAllele": "C", "start": 149741146 } ], "hgvs": [ "NC_000006.10:g.149741147C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "T", "end": 65019, "referenceAllele": "C", "start": 65018 } ], "hgvs": [ "NG_021386.1:g.65019C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003614" }, { "coordinates": [ { "allele": "T", "end": 165395, "referenceAllele": "C", "start": 165394 } ], "hgvs": [ "NG_021386.2:g.165395C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616253" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 818, "referenceAllele": "C", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "ENST00000703212.1:n.818C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911627" }, { "coordinates": [ { "allele": "T", "end": 811, "referenceAllele": "C", "start": 810 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "ENST00000703213.1:c.403C>T" ], "proteinEffect": { "hgvs": "ENSP00000515239.1:p.Gln135Ter", "hgvsWellDefined": "ENSP00000515239.1:p.Gln135Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS911628" }, { "coordinates": [ { "allele": "T", "end": 90, "endIntronDirection": "-", "endIntronOffset": 353, "referenceAllele": "C", "start": 90, "startIntronDirection": "-", "startIntronOffset": 354 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "ENST00000636456.1:c.-96-354C>T" ], "proteinEffect": { "hgvs": "ENSP00000490379.1:n.-96-354C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS763127" }, { "coordinates": [ { "allele": "T", "end": 796, "referenceAllele": "C", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "ENST00000637181.2:c.403C>T" ], "proteinEffect": { "hgvs": "ENSP00000490618.1:p.Gln135Ter", "hgvsWellDefined": "ENSP00000490618.1:p.Gln135_Phe693delinsGlyPheAsnValPheGlyMetSerSerSerSerGlyAlaSerAsnSerAlaProHisLeuGlyPheHisLeuGlySerLysGlyThrSerSerLeuSerGlnGlnThrProArgPheAsnProIleMetValThrLeuAlaProAsnIleGlnThrGlyArgAsnThrProThrSerLeuHisIleHisGlyValProProProValLeuAsnSerProGlnGlyAsnSerIleTyrIleArgProTyrIleThrThrProGlyGlyThrThrArgGlnThrGlnGlnHisSerGlyTrpValSerGlnPheAsnProMetAsnProGlnGlnValTyrGlnProSerGlnProGlyProTrpThrThrCysProAlaSerAsnProLeuSerHisThrSerSerGlnGlnProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763671", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000637181.2:c.403C>T" }, "RefSeq": { "hgvs": "NM_001292034.3:c.403C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000490618.1:p.Gln135Ter" }, "RefSeq": { "hgvs": "NP_001278963.1:p.Gln135Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 980, "referenceAllele": "C", "start": 979 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "ENST00000367456.5:c.403C>T" ], "proteinEffect": { "hgvs": "ENSP00000356426.1:p.Gln135Ter", "hgvsWellDefined": "ENSP00000356426.1:p.Gln135_Phe693delinsGlyPheAsnValPheGlyMetSerSerSerSerGlyAlaSerAsnSerAlaProHisLeuGlyPheHisLeuGlySerLysGlyThrSerSerLeuSerGlnGlnThrProArgPheAsnProIleMetValThrLeuAlaProAsnIleGlnThrGlyArgAsnThrProThrSerLeuHisIleHisGlyValProProProValLeuAsnSerProGlnGlyAsnSerIleTyrIleArgProTyrIleThrThrProGlyGlyThrThrArgGlnThrGlnGlnHisSerGlyTrpValSerGlnPheAsnProMetAsnProGlnGlnValTyrGlnProSerGlnProGlyProTrpThrThrCysProAlaSerAsnProLeuSerHisThrSerSerGlnGlnProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266399" }, { "coordinates": [ { "allele": "T", "end": 513, "referenceAllele": "C", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "ENST00000470466.5:c.403C>T" ], "proteinEffect": { "hgvs": "ENSP00000432709.1:p.Gln135Ter", "hgvsWellDefined": "ENSP00000432709.1:p.Gln135_Ile536delinsGlyPheAsnValPheGlyMetSerSerSerSerGlyAlaSerAsnSerAlaProHisLeuGlyPheHisLeuGlySerLysGlyThrSerSerLeuSerGlnGlnThrProArgPheAsnProIleMetValThrLeuAlaProAsnIleGlnThrGlyArgAsnThrProThrSerLeuHisIleHisGlyValProProProValLeuAsnSerProGlnGlyAsnSerIleTyrIleArgProTyrIleThrThrProGlyGlyThrThrArgGlnThrGlnGlnHisSerGlyTrpValSerGlnPheAsnProMetAsnProGlnGlnValTyrGlnProSerGlnProGlyProTrpThrThrCysProAlaSerAsnProLeuSerHisThrSerSerGlnGlnProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS312894" }, { "coordinates": [ { "allele": "T", "end": 669, "referenceAllele": "C", "start": 668 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "ENST00000538427.5:c.403C>T" ], "proteinEffect": { "hgvs": "ENSP00000445752.1:p.Gln135Ter", "hgvsWellDefined": "ENSP00000445752.1:p.Gln135_Phe693delinsGlyPheAsnValPheGlyMetSerSerSerSerGlyAlaSerAsnSerAlaProHisLeuGlyPheHisLeuGlySerLysGlyThrSerSerLeuSerGlnGlnThrProArgPheAsnProIleMetValThrLeuAlaProAsnIleGlnThrGlyArgAsnThrProThrSerLeuHisIleHisGlyValProProProValLeuAsnSerProGlnGlyAsnSerIleTyrIleArgProTyrIleThrThrProGlyGlyThrThrArgGlnThrGlnGlnHisSerGlyTrpValSerGlnPheAsnProMetAsnProGlnGlnValTyrGlnProSerGlnProGlyProTrpThrThrCysProAlaSerAsnProLeuSerHisThrSerSerGlnGlnProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS361319" }, { "coordinates": [ { "allele": "T", "end": 437, "referenceAllele": "C", "start": 436 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "ENST00000606202.1:c.181C>T" ], "proteinEffect": { "hgvs": "ENSP00000476139.1:p.Gln61Ter", "hgvsWellDefined": "ENSP00000476139.1:p.Gln61_Leu131del" }, "referenceSequence": "http://reg.genome.network/refseq/RS399669" }, { "@id": "http://reg.genome.network/allele/PA2826819851", "coordinates": [ { "allele": "T", "end": 581, "referenceAllele": "C", "start": 580 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "NM_001292034.2:c.403C>T" ], "proteinEffect": { "hgvs": "NP_001278963.1:p.Gln135Ter", "hgvsWellDefined": "NP_001278963.1:p.Gln135_Phe693delinsGlyPheAsnValPheGlyMetSerSerSerSerGlyAlaSerAsnSerAlaProHisLeuGlyPheHisLeuGlySerLysGlyThrSerSerLeuSerGlnGlnThrProArgPheAsnProIleMetValThrLeuAlaProAsnIleGlnThrGlyArgAsnThrProThrSerLeuHisIleHisGlyValProProProValLeuAsnSerProGlnGlyAsnSerIleTyrIleArgProTyrIleThrThrProGlyGlyThrThrArgGlnThrGlnGlnHisSerGlyTrpValSerGlnPheAsnProMetAsnProGlnGlnValTyrGlnProSerGlnProGlyProTrpThrThrCysProAlaSerAsnProLeuSerHisThrSerSerGlnGlnProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024452" }, { "@id": "http://reg.genome.network/allele/PA2826820034", "coordinates": [ { "allele": "T", "end": 616, "referenceAllele": "C", "start": 615 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "NM_001292035.2:c.307C>T" ], "proteinEffect": { "hgvs": "NP_001278964.1:p.Gln103Ter", "hgvsWellDefined": "NP_001278964.1:p.Gln103_Phe661delinsGlyPheAsnValPheGlyMetSerSerSerSerGlyAlaSerAsnSerAlaProHisLeuGlyPheHisLeuGlySerLysGlyThrSerSerLeuSerGlnGlnThrProArgPheAsnProIleMetValThrLeuAlaProAsnIleGlnThrGlyArgAsnThrProThrSerLeuHisIleHisGlyValProProProValLeuAsnSerProGlnGlyAsnSerIleTyrIleArgProTyrIleThrThrProGlyGlyThrThrArgGlnThrGlnGlnHisSerGlyTrpValSerGlnPheAsnProMetAsnProGlnGlnValTyrGlnProSerGlnProGlyProTrpThrThrCysProAlaSerAsnProLeuSerHisThrSerSerGlnGlnProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024453" }, { "@id": "http://reg.genome.network/allele/PA645429904", "coordinates": [ { "allele": "T", "end": 824, "referenceAllele": "C", "start": 823 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "NM_015093.5:c.403C>T" ], "proteinEffect": { "hgvs": "NP_055908.1:p.Gln135Ter", "hgvsWellDefined": "NP_055908.1:p.Gln135_Phe693delinsGlyPheAsnValPheGlyMetSerSerSerSerGlyAlaSerAsnSerAlaProHisLeuGlyPheHisLeuGlySerLysGlyThrSerSerLeuSerGlnGlnThrProArgPheAsnProIleMetValThrLeuAlaProAsnIleGlnThrGlyArgAsnThrProThrSerLeuHisIleHisGlyValProProProValLeuAsnSerProGlnGlyAsnSerIleTyrIleArgProTyrIleThrThrProGlyGlyThrThrArgGlnThrGlnGlnHisSerGlyTrpValSerGlnPheAsnProMetAsnProGlnGlnValTyrGlnProSerGlnProGlyProTrpThrThrCysProAlaSerAsnProLeuSerHisThrSerSerGlnGlnProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033737" }, { "coordinates": [ { "allele": "T", "end": 818, "referenceAllele": "C", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "XM_006715403.2:c.403C>T" ], "proteinEffect": { "hgvs": "XP_006715466.1:p.Gln135Ter", "hgvsWellDefined": "XP_006715466.1:p.Gln135_Phe693delinsGlyPheAsnValPheGlyMetSerSerSerSerGlyAlaSerAsnSerAlaProHisLeuGlyPheHisLeuGlySerLysGlyThrSerSerLeuSerGlnGlnThrProArgPheAsnProIleMetValThrLeuAlaProAsnIleGlnThrGlyArgAsnThrProThrSerLeuHisIleHisGlyValProProProValLeuAsnSerProGlnGlyAsnSerIleTyrIleArgProTyrIleThrThrProGlyGlyThrThrArgGlnThrGlnGlnHisSerGlyTrpValSerGlnPheAsnProMetAsnProGlnGlnValTyrGlnProSerGlnProGlyProTrpThrThrCysProAlaSerAsnProLeuSerHisThrSerSerGlnGlnProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071136" }, { "coordinates": [ { "allele": "T", "end": 975, "referenceAllele": "C", "start": 974 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "XM_011535633.1:c.403C>T" ], "proteinEffect": { "hgvs": "XP_011533935.1:p.Gln135Ter", "hgvsWellDefined": "XP_011533935.1:p.Gln135_Phe693delinsGlyPheAsnValPheGlyMetSerSerSerSerGlyAlaSerAsnSerAlaProHisLeuGlyPheHisLeuGlySerLysGlyThrSerSerLeuSerGlnGlnThrProArgPheAsnProIleMetValThrLeuAlaProAsnIleGlnThrGlyArgAsnThrProThrSerLeuHisIleHisGlyValProProProValLeuAsnSerProGlnGlyAsnSerIleTyrIleArgProTyrIleThrThrProGlyGlyThrThrArgGlnThrGlnGlnHisSerGlyTrpValSerGlnPheAsnProMetAsnProGlnGlnValTyrGlnProSerGlnProGlyProTrpThrThrCysProAlaSerAsnProLeuSerHisThrSerSerGlnGlnProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102636" }, { "coordinates": [ { "allele": "T", "end": 731, "referenceAllele": "C", "start": 730 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "XM_011535634.1:c.403C>T" ], "proteinEffect": { "hgvs": "XP_011533936.1:p.Gln135Ter", "hgvsWellDefined": "XP_011533936.1:p.Gln135_Phe693delinsGlyPheAsnValPheGlyMetSerSerSerSerGlyAlaSerAsnSerAlaProHisLeuGlyPheHisLeuGlySerLysGlyThrSerSerLeuSerGlnGlnThrProArgPheAsnProIleMetValThrLeuAlaProAsnIleGlnThrGlyArgAsnThrProThrSerLeuHisIleHisGlyValProProProValLeuAsnSerProGlnGlyAsnSerIleTyrIleArgProTyrIleThrThrProGlyGlyThrThrArgGlnThrGlnGlnHisSerGlyTrpValSerGlnPheAsnProMetAsnProGlnGlnValTyrGlnProSerGlnProGlyProTrpThrThrCysProAlaSerAsnProLeuSerHisThrSerSerGlnGlnProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102637" }, { "coordinates": [ { "allele": "T", "end": 1263, "referenceAllele": "C", "start": 1262 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "XM_011535633.2:c.403C>T" ], "proteinEffect": { "hgvs": "XP_011533935.1:p.Gln135Ter", "hgvsWellDefined": "XP_011533935.1:p.Gln135_Phe693delinsGlyPheAsnValPheGlyMetSerSerSerSerGlyAlaSerAsnSerAlaProHisLeuGlyPheHisLeuGlySerLysGlyThrSerSerLeuSerGlnGlnThrProArgPheAsnProIleMetValThrLeuAlaProAsnIleGlnThrGlyArgAsnThrProThrSerLeuHisIleHisGlyValProProProValLeuAsnSerProGlnGlyAsnSerIleTyrIleArgProTyrIleThrThrProGlyGlyThrThrArgGlnThrGlnGlnHisSerGlyTrpValSerGlnPheAsnProMetAsnProGlnGlnValTyrGlnProSerGlnProGlyProTrpThrThrCysProAlaSerAsnProLeuSerHisThrSerSerGlnGlnProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552108" }, { "coordinates": [ { "allele": "T", "end": 794, "referenceAllele": "C", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "XM_017010591.1:c.403C>T" ], "proteinEffect": { "hgvs": "XP_016866080.1:p.Gln135Ter", "hgvsWellDefined": "XP_016866080.1:p.Gln135_Phe693delinsGlyPheAsnValPheGlyMetSerSerSerSerGlyAlaSerAsnSerAlaProHisLeuGlyPheHisLeuGlySerLysGlyThrSerSerLeuSerGlnGlnThrProArgPheAsnProIleMetValThrLeuAlaProAsnIleGlnThrGlyArgAsnThrProThrSerLeuHisIleHisGlyValProProProValLeuAsnSerProGlnGlyAsnSerIleTyrIleArgProTyrIleThrThrProGlyGlyThrThrArgGlnThrGlnGlnHisSerGlyTrpValSerGlnPheAsnProMetAsnProGlnGlnValTyrGlnProSerGlnProGlyProTrpThrThrCysProAlaSerAsnProLeuSerHisThrSerSerGlnGlnProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564618" }, { "coordinates": [ { "allele": "T", "end": 1331, "referenceAllele": "C", "start": 1330 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "XM_017010592.2:c.403C>T" ], "proteinEffect": { "hgvs": "XP_016866081.1:p.Gln135Ter", "hgvsWellDefined": "XP_016866081.1:p.Gln135_Phe693delinsGlyPheAsnValPheGlyMetSerSerSerSerGlyAlaSerAsnSerAlaProHisLeuGlyPheHisLeuGlySerLysGlyThrSerSerLeuSerGlnGlnThrProArgPheAsnProIleMetValThrLeuAlaProAsnIleGlnThrGlyArgAsnThrProThrSerLeuHisIleHisGlyValProProProValLeuAsnSerProGlnGlyAsnSerIleTyrIleArgProTyrIleThrThrProGlyGlyThrThrArgGlnThrGlnGlnHisSerGlyTrpValSerGlnPheAsnProMetAsnProGlnGlnValTyrGlnProSerGlnProGlyProTrpThrThrCysProAlaSerAsnProLeuSerHisThrSerSerGlnGlnProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564619" }, { "@id": "http://reg.genome.network/allele/PA2826819851", "coordinates": [ { "allele": "T", "end": 796, "referenceAllele": "C", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "NM_001292034.3:c.403C>T" ], "proteinEffect": { "hgvs": "NP_001278963.1:p.Gln135Ter", "hgvsWellDefined": "NP_001278963.1:p.Gln135_Phe693delinsGlyPheAsnValPheGlyMetSerSerSerSerGlyAlaSerAsnSerAlaProHisLeuGlyPheHisLeuGlySerLysGlyThrSerSerLeuSerGlnGlnThrProArgPheAsnProIleMetValThrLeuAlaProAsnIleGlnThrGlyArgAsnThrProThrSerLeuHisIleHisGlyValProProProValLeuAsnSerProGlnGlyAsnSerIleTyrIleArgProTyrIleThrThrProGlyGlyThrThrArgGlnThrGlnGlnHisSerGlyTrpValSerGlnPheAsnProMetAsnProGlnGlnValTyrGlnProSerGlnProGlyProTrpThrThrCysProAlaSerAsnProLeuSerHisThrSerSerGlnGlnProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664268", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000637181.2:c.403C>T" }, "RefSeq": { "hgvs": "NM_001292034.3:c.403C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000490618.1:p.Gln135Ter" }, "RefSeq": { "hgvs": "NP_001278963.1:p.Gln135Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826820034", "coordinates": [ { "allele": "T", "end": 614, "referenceAllele": "C", "start": 613 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "NM_001292035.3:c.307C>T" ], "proteinEffect": { "hgvs": "NP_001278964.1:p.Gln103Ter", "hgvsWellDefined": "NP_001278964.1:p.Gln103_Phe661delinsGlyPheAsnValPheGlyMetSerSerSerSerGlyAlaSerAsnSerAlaProHisLeuGlyPheHisLeuGlySerLysGlyThrSerSerLeuSerGlnGlnThrProArgPheAsnProIleMetValThrLeuAlaProAsnIleGlnThrGlyArgAsnThrProThrSerLeuHisIleHisGlyValProProProValLeuAsnSerProGlnGlyAsnSerIleTyrIleArgProTyrIleThrThrProGlyGlyThrThrArgGlnThrGlnGlnHisSerGlyTrpValSerGlnPheAsnProMetAsnProGlnGlnValTyrGlnProSerGlnProGlyProTrpThrThrCysProAlaSerAsnProLeuSerHisThrSerSerGlnGlnProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682956" }, { "@id": "http://reg.genome.network/allele/PA2828333975", "coordinates": [ { "allele": "T", "end": 945, "referenceAllele": "C", "start": 944 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "NM_001369506.1:c.403C>T" ], "proteinEffect": { "hgvs": "NP_001356435.1:p.Gln135Ter", "hgvsWellDefined": "NP_001356435.1:p.Gln135_Phe693delinsGlyPheAsnValPheGlyMetSerSerSerSerGlyAlaSerAsnSerAlaProHisLeuGlyPheHisLeuGlySerLysGlyThrSerSerLeuSerGlnGlnThrProArgPheAsnProIleMetValThrLeuAlaProAsnIleGlnThrGlyArgAsnThrProThrSerLeuHisIleHisGlyValProProProValLeuAsnSerProGlnGlyAsnSerIleTyrIleArgProTyrIleThrThrProGlyGlyThrThrArgGlnThrGlnGlnHisSerGlyTrpValSerGlnPheAsnProMetAsnProGlnGlnValTyrGlnProSerGlnProGlyProTrpThrThrCysProAlaSerAsnProLeuSerHisThrSerSerGlnGlnProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691726" }, { "@id": "http://reg.genome.network/allele/PA645429904", "coordinates": [ { "allele": "T", "end": 824, "referenceAllele": "C", "start": 823 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "NM_015093.6:c.403C>T" ], "proteinEffect": { "hgvs": "NP_055908.1:p.Gln135Ter", "hgvsWellDefined": "NP_055908.1:p.Gln135_Phe693delinsGlyPheAsnValPheGlyMetSerSerSerSerGlyAlaSerAsnSerAlaProHisLeuGlyPheHisLeuGlySerLysGlyThrSerSerLeuSerGlnGlnThrProArgPheAsnProIleMetValThrLeuAlaProAsnIleGlnThrGlyArgAsnThrProThrSerLeuHisIleHisGlyValProProProValLeuAsnSerProGlnGlyAsnSerIleTyrIleArgProTyrIleThrThrProGlyGlyThrThrArgGlnThrGlnGlnHisSerGlyTrpValSerGlnPheAsnProMetAsnProGlnGlnValTyrGlnProSerGlnProGlyProTrpThrThrCysProAlaSerAsnProLeuSerHisThrSerSerGlnGlnProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728032" } ], "type": "nucleotide" }