{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16042629", "communityStandardTitle": [ "NM_001292034.3(TAB2):c.251C>A (p.Ser84Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=359722[alleleid]", "alleleId": 359722, "preferredName": "NM_001292034.3(TAB2):c.251C>A (p.Ser84Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/373469", "RCV": [ "RCV000413051" ], "variationId": 373469 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.149699302C>A?assembly=hg19", "id": "chr6:g.149699302C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.149378166C>A?assembly=hg38", "id": "chr6:g.149378166C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518437", "rs": 1057518437 } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 149378166, "referenceAllele": "C", "start": 149378165 } ], "hgvs": [ "NC_000006.12:g.149378166C>A", "CM000668.2:g.149378166C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 149699302, "referenceAllele": "C", "start": 149699301 } ], "hgvs": [ "NC_000006.11:g.149699302C>A", "CM000668.1:g.149699302C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 149740995, "referenceAllele": "C", "start": 149740994 } ], "hgvs": [ "NC_000006.10:g.149740995C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "A", "end": 64867, "referenceAllele": "C", "start": 64866 } ], "hgvs": [ "NG_021386.1:g.64867C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003614" }, { "coordinates": [ { "allele": "A", "end": 165243, "referenceAllele": "C", "start": 165242 } ], "hgvs": [ "NG_021386.2:g.165243C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616253" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 666, "referenceAllele": "C", "start": 665 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "ENST00000703212.1:n.666C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS911627" }, { "coordinates": [ { "allele": "A", "end": 659, "referenceAllele": "C", "start": 658 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "ENST00000703213.1:c.251C>A" ], "proteinEffect": { "hgvs": "ENSP00000515239.1:p.Ser84Ter", "hgvsWellDefined": "ENSP00000515239.1:p.Ser84Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS911628" }, { "coordinates": [ { "allele": "A", "end": 90, "endIntronDirection": "-", "endIntronOffset": 505, "referenceAllele": "C", "start": 90, "startIntronDirection": "-", "startIntronOffset": 506 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "ENST00000636456.1:c.-96-506C>A" ], "proteinEffect": { "hgvs": "ENSP00000490379.1:n.-96-506C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS763127" }, { "coordinates": [ { "allele": "A", "end": 644, "referenceAllele": "C", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "ENST00000637181.2:c.251C>A" ], "proteinEffect": { "hgvs": "ENSP00000490618.1:p.Ser84Ter", "hgvsWellDefined": "ENSP00000490618.1:p.Ser84_Phe693delinsGlnAsnIleTyrHisHisGlyArgGluGlySerArgMetAsnGlySerArgThrLeuThrHisSerIleSerAspGlyGlnLeuGlnGlyGlyGlnSerAsnSerGluLeuPheGlnGlnGluProGlnThrAlaProAlaGlnValProGlnGlyPheAsnValPheGlyMetSerSerSerSerGlyAlaSerAsnSerAlaProHisLeuGlyPheHisLeuGlySerLysGlyThrSerSerLeuSerGlnGlnThrProArgPheAsnProIleMetValThrLeuAlaProAsnIleGlnThrGlyArgAsnThrProThrSerLeuHisIleHisGlyValProProProValLeuAsnSerProGlnGlyAsnSerIleTyrIleArgProTyrIleThrThrProGlyGlyThrThrArgGlnThrGlnGlnHisSerGlyTrpValSerGlnPheAsnProMetAsnProGlnGlnValTyrGlnProSerGlnProGlyProTrpThrThrCysProAlaSerAsnProLeuSerHisThrSerSerGlnGlnProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763671", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000637181.2:c.251C>A" }, "RefSeq": { "hgvs": "NM_001292034.3:c.251C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000490618.1:p.Ser84Ter" }, "RefSeq": { "hgvs": "NP_001278963.1:p.Ser84Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 828, "referenceAllele": "C", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "ENST00000367456.5:c.251C>A" ], "proteinEffect": { "hgvs": "ENSP00000356426.1:p.Ser84Ter", "hgvsWellDefined": "ENSP00000356426.1:p.Ser84_Phe693delinsGlnAsnIleTyrHisHisGlyArgGluGlySerArgMetAsnGlySerArgThrLeuThrHisSerIleSerAspGlyGlnLeuGlnGlyGlyGlnSerAsnSerGluLeuPheGlnGlnGluProGlnThrAlaProAlaGlnValProGlnGlyPheAsnValPheGlyMetSerSerSerSerGlyAlaSerAsnSerAlaProHisLeuGlyPheHisLeuGlySerLysGlyThrSerSerLeuSerGlnGlnThrProArgPheAsnProIleMetValThrLeuAlaProAsnIleGlnThrGlyArgAsnThrProThrSerLeuHisIleHisGlyValProProProValLeuAsnSerProGlnGlyAsnSerIleTyrIleArgProTyrIleThrThrProGlyGlyThrThrArgGlnThrGlnGlnHisSerGlyTrpValSerGlnPheAsnProMetAsnProGlnGlnValTyrGlnProSerGlnProGlyProTrpThrThrCysProAlaSerAsnProLeuSerHisThrSerSerGlnGlnProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266399" }, { "coordinates": [ { "allele": "A", "end": 361, "referenceAllele": "C", "start": 360 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "ENST00000470466.5:c.251C>A" ], "proteinEffect": { "hgvs": "ENSP00000432709.1:p.Ser84Ter", "hgvsWellDefined": "ENSP00000432709.1:p.Ser84_Ile536delinsGlnAsnIleTyrHisHisGlyArgGluGlySerArgMetAsnGlySerArgThrLeuThrHisSerIleSerAspGlyGlnLeuGlnGlyGlyGlnSerAsnSerGluLeuPheGlnGlnGluProGlnThrAlaProAlaGlnValProGlnGlyPheAsnValPheGlyMetSerSerSerSerGlyAlaSerAsnSerAlaProHisLeuGlyPheHisLeuGlySerLysGlyThrSerSerLeuSerGlnGlnThrProArgPheAsnProIleMetValThrLeuAlaProAsnIleGlnThrGlyArgAsnThrProThrSerLeuHisIleHisGlyValProProProValLeuAsnSerProGlnGlyAsnSerIleTyrIleArgProTyrIleThrThrProGlyGlyThrThrArgGlnThrGlnGlnHisSerGlyTrpValSerGlnPheAsnProMetAsnProGlnGlnValTyrGlnProSerGlnProGlyProTrpThrThrCysProAlaSerAsnProLeuSerHisThrSerSerGlnGlnProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS312894" }, { "coordinates": [ { "allele": "A", "end": 517, "referenceAllele": "C", "start": 516 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "ENST00000538427.5:c.251C>A" ], "proteinEffect": { "hgvs": "ENSP00000445752.1:p.Ser84Ter", "hgvsWellDefined": "ENSP00000445752.1:p.Ser84_Phe693delinsGlnAsnIleTyrHisHisGlyArgGluGlySerArgMetAsnGlySerArgThrLeuThrHisSerIleSerAspGlyGlnLeuGlnGlyGlyGlnSerAsnSerGluLeuPheGlnGlnGluProGlnThrAlaProAlaGlnValProGlnGlyPheAsnValPheGlyMetSerSerSerSerGlyAlaSerAsnSerAlaProHisLeuGlyPheHisLeuGlySerLysGlyThrSerSerLeuSerGlnGlnThrProArgPheAsnProIleMetValThrLeuAlaProAsnIleGlnThrGlyArgAsnThrProThrSerLeuHisIleHisGlyValProProProValLeuAsnSerProGlnGlyAsnSerIleTyrIleArgProTyrIleThrThrProGlyGlyThrThrArgGlnThrGlnGlnHisSerGlyTrpValSerGlnPheAsnProMetAsnProGlnGlnValTyrGlnProSerGlnProGlyProTrpThrThrCysProAlaSerAsnProLeuSerHisThrSerSerGlnGlnProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS361319" }, { "coordinates": [ { "allele": "A", "end": 285, "referenceAllele": "C", "start": 284 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "ENST00000606202.1:c.29C>A" ], "proteinEffect": { "hgvs": "ENSP00000476139.1:p.Ser10Ter", "hgvsWellDefined": "ENSP00000476139.1:p.Ser10_Leu131del" }, "referenceSequence": "http://reg.genome.network/refseq/RS399669" }, { "@id": "http://reg.genome.network/allele/PA2826819829", "coordinates": [ { "allele": "A", "end": 429, "referenceAllele": "C", "start": 428 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "NM_001292034.2:c.251C>A" ], "proteinEffect": { "hgvs": "NP_001278963.1:p.Ser84Ter", "hgvsWellDefined": "NP_001278963.1:p.Ser84_Phe693delinsGlnAsnIleTyrHisHisGlyArgGluGlySerArgMetAsnGlySerArgThrLeuThrHisSerIleSerAspGlyGlnLeuGlnGlyGlyGlnSerAsnSerGluLeuPheGlnGlnGluProGlnThrAlaProAlaGlnValProGlnGlyPheAsnValPheGlyMetSerSerSerSerGlyAlaSerAsnSerAlaProHisLeuGlyPheHisLeuGlySerLysGlyThrSerSerLeuSerGlnGlnThrProArgPheAsnProIleMetValThrLeuAlaProAsnIleGlnThrGlyArgAsnThrProThrSerLeuHisIleHisGlyValProProProValLeuAsnSerProGlnGlyAsnSerIleTyrIleArgProTyrIleThrThrProGlyGlyThrThrArgGlnThrGlnGlnHisSerGlyTrpValSerGlnPheAsnProMetAsnProGlnGlnValTyrGlnProSerGlnProGlyProTrpThrThrCysProAlaSerAsnProLeuSerHisThrSerSerGlnGlnProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024452" }, { "@id": "http://reg.genome.network/allele/PA2826820020", "coordinates": [ { "allele": "A", "end": 464, "referenceAllele": "C", "start": 463 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "NM_001292035.2:c.155C>A" ], "proteinEffect": { "hgvs": "NP_001278964.1:p.Ser52Ter", "hgvsWellDefined": "NP_001278964.1:p.Ser52_Phe661delinsGlnAsnIleTyrHisHisGlyArgGluGlySerArgMetAsnGlySerArgThrLeuThrHisSerIleSerAspGlyGlnLeuGlnGlyGlyGlnSerAsnSerGluLeuPheGlnGlnGluProGlnThrAlaProAlaGlnValProGlnGlyPheAsnValPheGlyMetSerSerSerSerGlyAlaSerAsnSerAlaProHisLeuGlyPheHisLeuGlySerLysGlyThrSerSerLeuSerGlnGlnThrProArgPheAsnProIleMetValThrLeuAlaProAsnIleGlnThrGlyArgAsnThrProThrSerLeuHisIleHisGlyValProProProValLeuAsnSerProGlnGlyAsnSerIleTyrIleArgProTyrIleThrThrProGlyGlyThrThrArgGlnThrGlnGlnHisSerGlyTrpValSerGlnPheAsnProMetAsnProGlnGlnValTyrGlnProSerGlnProGlyProTrpThrThrCysProAlaSerAsnProLeuSerHisThrSerSerGlnGlnProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024453" }, { "@id": "http://reg.genome.network/allele/PA645429902", "coordinates": [ { "allele": "A", "end": 672, "referenceAllele": "C", "start": 671 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "NM_015093.5:c.251C>A" ], "proteinEffect": { "hgvs": "NP_055908.1:p.Ser84Ter", "hgvsWellDefined": "NP_055908.1:p.Ser84_Phe693delinsGlnAsnIleTyrHisHisGlyArgGluGlySerArgMetAsnGlySerArgThrLeuThrHisSerIleSerAspGlyGlnLeuGlnGlyGlyGlnSerAsnSerGluLeuPheGlnGlnGluProGlnThrAlaProAlaGlnValProGlnGlyPheAsnValPheGlyMetSerSerSerSerGlyAlaSerAsnSerAlaProHisLeuGlyPheHisLeuGlySerLysGlyThrSerSerLeuSerGlnGlnThrProArgPheAsnProIleMetValThrLeuAlaProAsnIleGlnThrGlyArgAsnThrProThrSerLeuHisIleHisGlyValProProProValLeuAsnSerProGlnGlyAsnSerIleTyrIleArgProTyrIleThrThrProGlyGlyThrThrArgGlnThrGlnGlnHisSerGlyTrpValSerGlnPheAsnProMetAsnProGlnGlnValTyrGlnProSerGlnProGlyProTrpThrThrCysProAlaSerAsnProLeuSerHisThrSerSerGlnGlnProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033737" }, { "coordinates": [ { "allele": "A", "end": 666, "referenceAllele": "C", "start": 665 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "XM_006715403.2:c.251C>A" ], "proteinEffect": { "hgvs": "XP_006715466.1:p.Ser84Ter", "hgvsWellDefined": "XP_006715466.1:p.Ser84_Phe693delinsGlnAsnIleTyrHisHisGlyArgGluGlySerArgMetAsnGlySerArgThrLeuThrHisSerIleSerAspGlyGlnLeuGlnGlyGlyGlnSerAsnSerGluLeuPheGlnGlnGluProGlnThrAlaProAlaGlnValProGlnGlyPheAsnValPheGlyMetSerSerSerSerGlyAlaSerAsnSerAlaProHisLeuGlyPheHisLeuGlySerLysGlyThrSerSerLeuSerGlnGlnThrProArgPheAsnProIleMetValThrLeuAlaProAsnIleGlnThrGlyArgAsnThrProThrSerLeuHisIleHisGlyValProProProValLeuAsnSerProGlnGlyAsnSerIleTyrIleArgProTyrIleThrThrProGlyGlyThrThrArgGlnThrGlnGlnHisSerGlyTrpValSerGlnPheAsnProMetAsnProGlnGlnValTyrGlnProSerGlnProGlyProTrpThrThrCysProAlaSerAsnProLeuSerHisThrSerSerGlnGlnProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071136" }, { "coordinates": [ { "allele": "A", "end": 823, "referenceAllele": "C", "start": 822 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "XM_011535633.1:c.251C>A" ], "proteinEffect": { "hgvs": "XP_011533935.1:p.Ser84Ter", "hgvsWellDefined": "XP_011533935.1:p.Ser84_Phe693delinsGlnAsnIleTyrHisHisGlyArgGluGlySerArgMetAsnGlySerArgThrLeuThrHisSerIleSerAspGlyGlnLeuGlnGlyGlyGlnSerAsnSerGluLeuPheGlnGlnGluProGlnThrAlaProAlaGlnValProGlnGlyPheAsnValPheGlyMetSerSerSerSerGlyAlaSerAsnSerAlaProHisLeuGlyPheHisLeuGlySerLysGlyThrSerSerLeuSerGlnGlnThrProArgPheAsnProIleMetValThrLeuAlaProAsnIleGlnThrGlyArgAsnThrProThrSerLeuHisIleHisGlyValProProProValLeuAsnSerProGlnGlyAsnSerIleTyrIleArgProTyrIleThrThrProGlyGlyThrThrArgGlnThrGlnGlnHisSerGlyTrpValSerGlnPheAsnProMetAsnProGlnGlnValTyrGlnProSerGlnProGlyProTrpThrThrCysProAlaSerAsnProLeuSerHisThrSerSerGlnGlnProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102636" }, { "coordinates": [ { "allele": "A", "end": 579, "referenceAllele": "C", "start": 578 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "XM_011535634.1:c.251C>A" ], "proteinEffect": { "hgvs": "XP_011533936.1:p.Ser84Ter", "hgvsWellDefined": "XP_011533936.1:p.Ser84_Phe693delinsGlnAsnIleTyrHisHisGlyArgGluGlySerArgMetAsnGlySerArgThrLeuThrHisSerIleSerAspGlyGlnLeuGlnGlyGlyGlnSerAsnSerGluLeuPheGlnGlnGluProGlnThrAlaProAlaGlnValProGlnGlyPheAsnValPheGlyMetSerSerSerSerGlyAlaSerAsnSerAlaProHisLeuGlyPheHisLeuGlySerLysGlyThrSerSerLeuSerGlnGlnThrProArgPheAsnProIleMetValThrLeuAlaProAsnIleGlnThrGlyArgAsnThrProThrSerLeuHisIleHisGlyValProProProValLeuAsnSerProGlnGlyAsnSerIleTyrIleArgProTyrIleThrThrProGlyGlyThrThrArgGlnThrGlnGlnHisSerGlyTrpValSerGlnPheAsnProMetAsnProGlnGlnValTyrGlnProSerGlnProGlyProTrpThrThrCysProAlaSerAsnProLeuSerHisThrSerSerGlnGlnProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102637" }, { "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "C", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "XM_011535633.2:c.251C>A" ], "proteinEffect": { "hgvs": "XP_011533935.1:p.Ser84Ter", "hgvsWellDefined": "XP_011533935.1:p.Ser84_Phe693delinsGlnAsnIleTyrHisHisGlyArgGluGlySerArgMetAsnGlySerArgThrLeuThrHisSerIleSerAspGlyGlnLeuGlnGlyGlyGlnSerAsnSerGluLeuPheGlnGlnGluProGlnThrAlaProAlaGlnValProGlnGlyPheAsnValPheGlyMetSerSerSerSerGlyAlaSerAsnSerAlaProHisLeuGlyPheHisLeuGlySerLysGlyThrSerSerLeuSerGlnGlnThrProArgPheAsnProIleMetValThrLeuAlaProAsnIleGlnThrGlyArgAsnThrProThrSerLeuHisIleHisGlyValProProProValLeuAsnSerProGlnGlyAsnSerIleTyrIleArgProTyrIleThrThrProGlyGlyThrThrArgGlnThrGlnGlnHisSerGlyTrpValSerGlnPheAsnProMetAsnProGlnGlnValTyrGlnProSerGlnProGlyProTrpThrThrCysProAlaSerAsnProLeuSerHisThrSerSerGlnGlnProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552108" }, { "coordinates": [ { "allele": "A", "end": 642, "referenceAllele": "C", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "XM_017010591.1:c.251C>A" ], "proteinEffect": { "hgvs": "XP_016866080.1:p.Ser84Ter", "hgvsWellDefined": "XP_016866080.1:p.Ser84_Phe693delinsGlnAsnIleTyrHisHisGlyArgGluGlySerArgMetAsnGlySerArgThrLeuThrHisSerIleSerAspGlyGlnLeuGlnGlyGlyGlnSerAsnSerGluLeuPheGlnGlnGluProGlnThrAlaProAlaGlnValProGlnGlyPheAsnValPheGlyMetSerSerSerSerGlyAlaSerAsnSerAlaProHisLeuGlyPheHisLeuGlySerLysGlyThrSerSerLeuSerGlnGlnThrProArgPheAsnProIleMetValThrLeuAlaProAsnIleGlnThrGlyArgAsnThrProThrSerLeuHisIleHisGlyValProProProValLeuAsnSerProGlnGlyAsnSerIleTyrIleArgProTyrIleThrThrProGlyGlyThrThrArgGlnThrGlnGlnHisSerGlyTrpValSerGlnPheAsnProMetAsnProGlnGlnValTyrGlnProSerGlnProGlyProTrpThrThrCysProAlaSerAsnProLeuSerHisThrSerSerGlnGlnProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564618" }, { "coordinates": [ { "allele": "A", "end": 1179, "referenceAllele": "C", "start": 1178 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "XM_017010592.2:c.251C>A" ], "proteinEffect": { "hgvs": "XP_016866081.1:p.Ser84Ter", "hgvsWellDefined": "XP_016866081.1:p.Ser84_Phe693delinsGlnAsnIleTyrHisHisGlyArgGluGlySerArgMetAsnGlySerArgThrLeuThrHisSerIleSerAspGlyGlnLeuGlnGlyGlyGlnSerAsnSerGluLeuPheGlnGlnGluProGlnThrAlaProAlaGlnValProGlnGlyPheAsnValPheGlyMetSerSerSerSerGlyAlaSerAsnSerAlaProHisLeuGlyPheHisLeuGlySerLysGlyThrSerSerLeuSerGlnGlnThrProArgPheAsnProIleMetValThrLeuAlaProAsnIleGlnThrGlyArgAsnThrProThrSerLeuHisIleHisGlyValProProProValLeuAsnSerProGlnGlyAsnSerIleTyrIleArgProTyrIleThrThrProGlyGlyThrThrArgGlnThrGlnGlnHisSerGlyTrpValSerGlnPheAsnProMetAsnProGlnGlnValTyrGlnProSerGlnProGlyProTrpThrThrCysProAlaSerAsnProLeuSerHisThrSerSerGlnGlnProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564619" }, { "@id": "http://reg.genome.network/allele/PA2826819829", "coordinates": [ { "allele": "A", "end": 644, "referenceAllele": "C", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "NM_001292034.3:c.251C>A" ], "proteinEffect": { "hgvs": "NP_001278963.1:p.Ser84Ter", "hgvsWellDefined": "NP_001278963.1:p.Ser84_Phe693delinsGlnAsnIleTyrHisHisGlyArgGluGlySerArgMetAsnGlySerArgThrLeuThrHisSerIleSerAspGlyGlnLeuGlnGlyGlyGlnSerAsnSerGluLeuPheGlnGlnGluProGlnThrAlaProAlaGlnValProGlnGlyPheAsnValPheGlyMetSerSerSerSerGlyAlaSerAsnSerAlaProHisLeuGlyPheHisLeuGlySerLysGlyThrSerSerLeuSerGlnGlnThrProArgPheAsnProIleMetValThrLeuAlaProAsnIleGlnThrGlyArgAsnThrProThrSerLeuHisIleHisGlyValProProProValLeuAsnSerProGlnGlyAsnSerIleTyrIleArgProTyrIleThrThrProGlyGlyThrThrArgGlnThrGlnGlnHisSerGlyTrpValSerGlnPheAsnProMetAsnProGlnGlnValTyrGlnProSerGlnProGlyProTrpThrThrCysProAlaSerAsnProLeuSerHisThrSerSerGlnGlnProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664268", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000637181.2:c.251C>A" }, "RefSeq": { "hgvs": "NM_001292034.3:c.251C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000490618.1:p.Ser84Ter" }, "RefSeq": { "hgvs": "NP_001278963.1:p.Ser84Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826820020", "coordinates": [ { "allele": "A", "end": 462, "referenceAllele": "C", "start": 461 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "NM_001292035.3:c.155C>A" ], "proteinEffect": { "hgvs": "NP_001278964.1:p.Ser52Ter", "hgvsWellDefined": "NP_001278964.1:p.Ser52_Phe661delinsGlnAsnIleTyrHisHisGlyArgGluGlySerArgMetAsnGlySerArgThrLeuThrHisSerIleSerAspGlyGlnLeuGlnGlyGlyGlnSerAsnSerGluLeuPheGlnGlnGluProGlnThrAlaProAlaGlnValProGlnGlyPheAsnValPheGlyMetSerSerSerSerGlyAlaSerAsnSerAlaProHisLeuGlyPheHisLeuGlySerLysGlyThrSerSerLeuSerGlnGlnThrProArgPheAsnProIleMetValThrLeuAlaProAsnIleGlnThrGlyArgAsnThrProThrSerLeuHisIleHisGlyValProProProValLeuAsnSerProGlnGlyAsnSerIleTyrIleArgProTyrIleThrThrProGlyGlyThrThrArgGlnThrGlnGlnHisSerGlyTrpValSerGlnPheAsnProMetAsnProGlnGlnValTyrGlnProSerGlnProGlyProTrpThrThrCysProAlaSerAsnProLeuSerHisThrSerSerGlnGlnProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682956" }, { "@id": "http://reg.genome.network/allele/PA2828333953", "coordinates": [ { "allele": "A", "end": 793, "referenceAllele": "C", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "NM_001369506.1:c.251C>A" ], "proteinEffect": { "hgvs": "NP_001356435.1:p.Ser84Ter", "hgvsWellDefined": "NP_001356435.1:p.Ser84_Phe693delinsGlnAsnIleTyrHisHisGlyArgGluGlySerArgMetAsnGlySerArgThrLeuThrHisSerIleSerAspGlyGlnLeuGlnGlyGlyGlnSerAsnSerGluLeuPheGlnGlnGluProGlnThrAlaProAlaGlnValProGlnGlyPheAsnValPheGlyMetSerSerSerSerGlyAlaSerAsnSerAlaProHisLeuGlyPheHisLeuGlySerLysGlyThrSerSerLeuSerGlnGlnThrProArgPheAsnProIleMetValThrLeuAlaProAsnIleGlnThrGlyArgAsnThrProThrSerLeuHisIleHisGlyValProProProValLeuAsnSerProGlnGlyAsnSerIleTyrIleArgProTyrIleThrThrProGlyGlyThrThrArgGlnThrGlnGlnHisSerGlyTrpValSerGlnPheAsnProMetAsnProGlnGlnValTyrGlnProSerGlnProGlyProTrpThrThrCysProAlaSerAsnProLeuSerHisThrSerSerGlnGlnProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691726" }, { "@id": "http://reg.genome.network/allele/PA645429902", "coordinates": [ { "allele": "A", "end": 672, "referenceAllele": "C", "start": 671 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "NM_015093.6:c.251C>A" ], "proteinEffect": { "hgvs": "NP_055908.1:p.Ser84Ter", "hgvsWellDefined": "NP_055908.1:p.Ser84_Phe693delinsGlnAsnIleTyrHisHisGlyArgGluGlySerArgMetAsnGlySerArgThrLeuThrHisSerIleSerAspGlyGlnLeuGlnGlyGlyGlnSerAsnSerGluLeuPheGlnGlnGluProGlnThrAlaProAlaGlnValProGlnGlyPheAsnValPheGlyMetSerSerSerSerGlyAlaSerAsnSerAlaProHisLeuGlyPheHisLeuGlySerLysGlyThrSerSerLeuSerGlnGlnThrProArgPheAsnProIleMetValThrLeuAlaProAsnIleGlnThrGlyArgAsnThrProThrSerLeuHisIleHisGlyValProProProValLeuAsnSerProGlnGlyAsnSerIleTyrIleArgProTyrIleThrThrProGlyGlyThrThrArgGlnThrGlnGlnHisSerGlyTrpValSerGlnPheAsnProMetAsnProGlnGlnValTyrGlnProSerGlnProGlyProTrpThrThrCysProAlaSerAsnProLeuSerHisThrSerSerGlnGlnProAsnGlnGlnGlyHisGlnThrSerHisValTyrMetProIleSerSerProThrThrSerGlnProProThrIleHisSerSerGlySerSerGlnSerSerAlaHisSerGlnTyrAsnIleGlnAsnIleSerThrGlyProArgLysAsnGlnIleGluIleLysLeuGluProProGlnArgAsnAsnSerSerLysLeuArgSerSerGlyProArgThrSerSerThrSerSerSerValAsnSerGlnThrLeuAsnArgAsnGlnProThrValTyrIleAlaAlaSerProProAsnThrAspGluLeuMetSerArgSerGlnProLysValTyrIleSerAlaAsnAlaAlaThrGlyAspGluGlnValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728032" } ], "type": "nucleotide" }