{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA272834", "communityStandardTitle": [ "NM_014795.4(ZEB2):c.823C>T (p.Gln275Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=168032[alleleid]", "alleleId": 168032, "preferredName": "NM_014795.4(ZEB2):c.823C>T (p.Gln275Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/160328", "RCV": [ "RCV000148006", "RCV000623607" ], "variationId": 160328 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.145158859G>A?assembly=hg19", "id": "chr2:g.145158859G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.144401292G>A?assembly=hg38", "id": "chr2:g.144401292G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/587784570", "rs": 587784570 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 144401292, "referenceAllele": "G", "start": 144401291 } ], "hgvs": [ "NC_000002.12:g.144401292G>A", "CM000664.2:g.144401292G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 145158859, "referenceAllele": "G", "start": 145158858 } ], "hgvs": [ "NC_000002.11:g.145158859G>A", "CM000664.1:g.145158859G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 144875329, "referenceAllele": "G", "start": 144875328 } ], "hgvs": [ "NC_000002.10:g.144875329G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 124100, "referenceAllele": "C", "start": 124099 } ], "hgvs": [ "NG_016431.1:g.124100C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003185" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1030, "referenceAllele": "C", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000689298.1:c.*672C>T" ], "proteinEffect": { "hgvs": "ENSP00000508434.1:n.*672C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS832097" }, { "coordinates": [ { "allele": "T", "end": 800, "referenceAllele": "C", "start": 799 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000440875.6:c.46C>T" ], "proteinEffect": { "hgvs": "ENSP00000475553.3:p.Gln16Ter", "hgvsWellDefined": "ENSP00000475553.3:p.Gln16_Met955delinsGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755814" }, { "coordinates": [ { "allele": "T", "end": 1073, "referenceAllele": "C", "start": 1072 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000627532.3:c.823C>T" ], "proteinEffect": { "hgvs": "ENSP00000487174.1:p.Gln275Ter", "hgvsWellDefined": "ENSP00000487174.1:p.Gln275_Met1214delinsGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762493", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000627532.3:c.823C>T" }, "RefSeq": { "hgvs": "NM_014795.4:c.823C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000487174.1:p.Gln275Ter" }, "RefSeq": { "hgvs": "NP_055610.1:p.Gln275Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1352, "referenceAllele": "C", "start": 1351 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000636026.2:c.823C>T" ], "proteinEffect": { "hgvs": "ENSP00000490776.1:p.Gln275Ter", "hgvsWellDefined": "ENSP00000490776.1:p.Gln275_Cys1202delinsGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgAlaLeuProLeuArgGlyThrLeuThrArgArgArgGlyArgValCysArgGlyMetAlaArgAlaArgArgSerThrArgLysLysAlaArgMetAlaThrGlySerTrpAlaAspArgMetAlaThrArgSerSerArgArgLysArgLysLysValLysIleLysValTrpIleArgIleProLysArgTyrGluMetLysLysArgLeuGluIleThrProTrpThrIleValArgArgMetGlyLysTrpLysProAsnGlnThrThrArgLysThrIleTrpLysMetAlaCysAsnLysLeuLeuHisPheLysLeuProIlePhePheSerSerSerIleValThrCysLeuLysThrLeuLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762819" }, { "coordinates": [ { "allele": "T", "end": 792, "referenceAllele": "C", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000636179.1:n.792C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS762930" }, { "coordinates": [ { "allele": "T", "end": 792, "referenceAllele": "C", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000636413.1:c.487C>T" ], "proteinEffect": { "hgvs": "ENSP00000490508.1:p.Gln163Ter", "hgvsWellDefined": "ENSP00000490508.1:p.Gln163_Met1102delinsGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763096" }, { "coordinates": [ { "allele": "T", "end": 1316, "referenceAllele": "C", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000636471.1:c.823C>T" ], "proteinEffect": { "hgvs": "ENSP00000490317.1:p.Gln275Ter", "hgvsWellDefined": "ENSP00000490317.1:p.Gln275_Met1239delinsGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerAspSerSerLeuGlyArgGlnLeuGlnLeuLeuSerAsnGlnGlyAsnValThrValIleLeuIleIleIleLeuGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763137" }, { "coordinates": [ { "allele": "T", "end": 1110, "referenceAllele": "C", "start": 1109 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000636732.2:c.*540C>T" ], "proteinEffect": { "hgvs": "ENSP00000490175.1:n.*540C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS763342" }, { "coordinates": [ { "allele": "T", "end": 923, "referenceAllele": "C", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000636820.1:n.923C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS763406" }, { "coordinates": [ { "allele": "T", "end": 899, "referenceAllele": "C", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000637045.1:c.487C>T" ], "proteinEffect": { "hgvs": "ENSP00000490141.1:p.Gln163Ter", "hgvsWellDefined": "ENSP00000490141.1:p.Gln163_Met1102delinsGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763570" }, { "coordinates": [ { "allele": "T", "end": 1664, "referenceAllele": "C", "start": 1663 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000637267.2:c.823C>T" ], "proteinEffect": { "hgvs": "ENSP00000490293.2:p.Gln275Ter", "hgvsWellDefined": "ENSP00000490293.2:p.Gln275_Ala612del" }, "referenceSequence": "http://reg.genome.network/refseq/RS763741" }, { "coordinates": [ { "allele": "T", "end": 966, "referenceAllele": "C", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000637304.1:c.487C>T" ], "proteinEffect": { "hgvs": "ENSP00000490872.1:p.Gln163Ter", "hgvsWellDefined": "ENSP00000490872.1:p.Gln163_Met1102delinsGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763767" }, { "coordinates": [ { "allele": "T", "end": 948, "referenceAllele": "C", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000638007.1:c.487C>T" ], "proteinEffect": { "hgvs": "ENSP00000490723.1:p.Gln163Ter", "hgvsWellDefined": "ENSP00000490723.1:p.Gln163_Met1102delinsGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764270" }, { "coordinates": [ { "allele": "T", "end": 1147, "referenceAllele": "C", "start": 1146 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000638087.1:c.487C>T" ], "proteinEffect": { "hgvs": "ENSP00000490673.1:p.Gln163Ter", "hgvsWellDefined": "ENSP00000490673.1:p.Gln163_Met1102delinsGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764332" }, { "coordinates": [ { "allele": "T", "end": 740, "referenceAllele": "C", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000638128.1:c.46C>T" ], "proteinEffect": { "hgvs": "ENSP00000490934.1:p.Gln16Ter", "hgvsWellDefined": "ENSP00000490934.1:p.Gln16_Met955delinsGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764361" }, { "coordinates": [ { "allele": "T", "end": 223, "endIntronDirection": "-", "endIntronOffset": 2441, "referenceAllele": "C", "start": 223, "startIntronDirection": "-", "startIntronOffset": 2442 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000675069.1:c.-133-2442C>T" ], "proteinEffect": { "hgvs": "ENSP00000502467.1:n.-133-2442C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774941" }, { "coordinates": [ { "allele": "T", "end": 1371, "referenceAllele": "C", "start": 1370 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000675145.1:n.1371C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775011" }, { "coordinates": [ { "allele": "T", "end": 957, "referenceAllele": "C", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000303660.8:c.820C>T" ], "proteinEffect": { "hgvs": "ENSP00000302501.4:p.Gln274Ter", "hgvsWellDefined": "ENSP00000302501.4:p.Gln274_Met1213delinsGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255344" }, { "coordinates": [ { "allele": "T", "end": 1020, "referenceAllele": "C", "start": 1019 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000392861.6:c.907C>T" ], "proteinEffect": { "hgvs": "ENSP00000376601.3:p.Gln303Ter", "hgvsWellDefined": "ENSP00000376601.3:p.Gln303_Leu467del" }, "referenceSequence": "http://reg.genome.network/refseq/RS275325" }, { "coordinates": [ { "allele": "T", "end": 1106, "referenceAllele": "C", "start": 1105 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000409487.7:c.823C>T" ], "proteinEffect": { "hgvs": "ENSP00000386854.2:p.Gln275Ter", "hgvsWellDefined": "ENSP00000386854.2:p.Gln275_Met1214delinsGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281594" }, { "coordinates": [ { "allele": "T", "end": 795, "referenceAllele": "C", "start": 794 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000419938.5:c.562C>T" ], "proteinEffect": { "hgvs": "ENSP00000394777.2:p.Gln188Ter", "hgvsWellDefined": "ENSP00000394777.2:p.Gln188_Thr220delinsGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS286101" }, { "coordinates": [ { "allele": "T", "end": 952, "referenceAllele": "C", "start": 951 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000427902.5:c.910C>T" ], "proteinEffect": { "hgvs": "ENSP00000395496.2:p.Gln304Ter", "hgvsWellDefined": "ENSP00000395496.2:p.Gln304Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS289932" }, { "coordinates": [ { "allele": "T", "end": 1345, "referenceAllele": "C", "start": 1344 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000440875.5:c.808C>T" ], "proteinEffect": { "hgvs": "ENSP00000475553.2:p.Gln270Ter", "hgvsWellDefined": "ENSP00000475553.2:p.Gln270_Ser423delinsGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysAsnSerArgArgGlnTrpLeuMetProValIleProAlaLeuTrpGluAlaAsnGluGlyGlySerGlyGlnGluPheGluThrSerLeuAlaAsnMetValLysHisHisLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS296105" }, { "coordinates": [ { "allele": "T", "end": 1001, "referenceAllele": "C", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000539609.7:c.751C>T" ], "proteinEffect": { "hgvs": "ENSP00000443792.2:p.Gln251Ter", "hgvsWellDefined": "ENSP00000443792.2:p.Gln251_Met1190delinsGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS361949" }, { "coordinates": [ { "allele": "T", "end": 1024, "referenceAllele": "C", "start": 1023 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000558170.6:c.823C>T" ], "proteinEffect": { "hgvs": "ENSP00000454157.1:p.Gln275Ter", "hgvsWellDefined": "ENSP00000454157.1:p.Gln275_Met1214delinsGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS373604" }, { "coordinates": [ { "allele": "T", "end": 1349, "referenceAllele": "C", "start": 1348 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000627532.2:c.823C>T" ], "proteinEffect": { "hgvs": "ENSP00000487174.1:p.Gln275Ter", "hgvsWellDefined": "ENSP00000487174.1:p.Gln275_Met1214delinsGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS406905" }, { "@id": "http://reg.genome.network/allele/PA2826086628", "coordinates": [ { "allele": "T", "end": 1273, "referenceAllele": "C", "start": 1272 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "NM_001171653.1:c.751C>T" ], "proteinEffect": { "hgvs": "NP_001165124.1:p.Gln251Ter", "hgvsWellDefined": "NP_001165124.1:p.Gln251_Met1190delinsGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015347" }, { "@id": "http://reg.genome.network/allele/PA272835", "coordinates": [ { "allele": "T", "end": 1345, "referenceAllele": "C", "start": 1344 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "NM_014795.3:c.823C>T" ], "proteinEffect": { "hgvs": "NP_055610.1:p.Gln275Ter", "hgvsWellDefined": "NP_055610.1:p.Gln275_Met1214delinsGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033472" }, { "coordinates": [ { "allele": "T", "end": 949, "referenceAllele": "C", "start": 948 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "XM_006712881.2:c.823C>T" ], "proteinEffect": { "hgvs": "XP_006712944.1:p.Gln275Ter", "hgvsWellDefined": "XP_006712944.1:p.Gln275_Met1214delinsGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069897" }, { "coordinates": [ { "allele": "T", "end": 1031, "referenceAllele": "C", "start": 1030 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "XM_006712882.2:c.823C>T" ], "proteinEffect": { "hgvs": "XP_006712945.1:p.Gln275Ter", "hgvsWellDefined": "XP_006712945.1:p.Gln275_Met1214delinsGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069898" }, { "coordinates": [ { "allele": "T", "end": 829, "referenceAllele": "C", "start": 828 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "XM_011512231.1:c.814C>T" ], "proteinEffect": { "hgvs": "XP_011510533.1:p.Gln272Ter", "hgvsWellDefined": "XP_011510533.1:p.Gln272_Met1211delinsGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079489" }, { "coordinates": [ { "allele": "T", "end": 1205, "referenceAllele": "C", "start": 1204 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "XM_011512232.1:c.802C>T" ], "proteinEffect": { "hgvs": "XP_011510534.1:p.Gln268Ter", "hgvsWellDefined": "XP_011510534.1:p.Gln268_Met1207delinsGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079490" }, { "@id": "http://reg.genome.network/allele/PA272835", "coordinates": [ { "allele": "T", "end": 1073, "referenceAllele": "C", "start": 1072 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "NM_014795.4:c.823C>T" ], "proteinEffect": { "hgvs": "NP_055610.1:p.Gln275Ter", "hgvsWellDefined": "NP_055610.1:p.Gln275_Met1214delinsGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668501", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000627532.3:c.823C>T" }, "RefSeq": { "hgvs": "NM_014795.4:c.823C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000487174.1:p.Gln275Ter" }, "RefSeq": { "hgvs": "NP_055610.1:p.Gln275Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826086628", "coordinates": [ { "allele": "T", "end": 1001, "referenceAllele": "C", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "NM_001171653.2:c.751C>T" ], "proteinEffect": { "hgvs": "NP_001165124.1:p.Gln251Ter", "hgvsWellDefined": "NP_001165124.1:p.Gln251_Met1190delinsGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678702" } ], "type": "nucleotide" }