{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA235589", "communityStandardTitle": [ "NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=168031[alleleid]", "alleleId": 168031, "preferredName": "NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/160329", "RCV": [ "RCV000148007", "RCV000167554" ], "variationId": 160329 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.145158778G>A?assembly=hg19", "id": "chr2:g.145158778G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.144401211G>A?assembly=hg38", "id": "chr2:g.144401211G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/587784571", "rs": 587784571 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 144401211, "referenceAllele": "G", "start": 144401210 } ], "hgvs": [ "NC_000002.12:g.144401211G>A", "CM000664.2:g.144401211G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 145158778, "referenceAllele": "G", "start": 145158777 } ], "hgvs": [ "NC_000002.11:g.145158778G>A", "CM000664.1:g.145158778G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 144875248, "referenceAllele": "G", "start": 144875247 } ], "hgvs": [ "NC_000002.10:g.144875248G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 124181, "referenceAllele": "C", "start": 124180 } ], "hgvs": [ "NG_016431.1:g.124181C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003185" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1111, "referenceAllele": "C", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000689298.1:c.*753C>T" ], "proteinEffect": { "hgvs": "ENSP00000508434.1:n.*753C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS832097" }, { "coordinates": [ { "allele": "T", "end": 881, "referenceAllele": "C", "start": 880 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000440875.6:c.127C>T" ], "proteinEffect": { "hgvs": "ENSP00000475553.3:p.Arg43Ter", "hgvsWellDefined": "ENSP00000475553.3:p.Arg43_Met955delinsIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755814" }, { "coordinates": [ { "allele": "T", "end": 1154, "referenceAllele": "C", "start": 1153 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000627532.3:c.904C>T" ], "proteinEffect": { "hgvs": "ENSP00000487174.1:p.Arg302Ter", "hgvsWellDefined": "ENSP00000487174.1:p.Arg302_Met1214delinsIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762493", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000627532.3:c.904C>T" }, "RefSeq": { "hgvs": "NM_014795.4:c.904C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000487174.1:p.Arg302Ter" }, "RefSeq": { "hgvs": "NP_055610.1:p.Arg302Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1433, "referenceAllele": "C", "start": 1432 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000636026.2:c.904C>T" ], "proteinEffect": { "hgvs": "ENSP00000490776.1:p.Arg302Ter", "hgvsWellDefined": "ENSP00000490776.1:p.Arg302_Cys1202delinsIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgAlaLeuProLeuArgGlyThrLeuThrArgArgArgGlyArgValCysArgGlyMetAlaArgAlaArgArgSerThrArgLysLysAlaArgMetAlaThrGlySerTrpAlaAspArgMetAlaThrArgSerSerArgArgLysArgLysLysValLysIleLysValTrpIleArgIleProLysArgTyrGluMetLysLysArgLeuGluIleThrProTrpThrIleValArgArgMetGlyLysTrpLysProAsnGlnThrThrArgLysThrIleTrpLysMetAlaCysAsnLysLeuLeuHisPheLysLeuProIlePhePheSerSerSerIleValThrCysLeuLysThrLeuLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762819" }, { "coordinates": [ { "allele": "T", "end": 873, "referenceAllele": "C", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000636179.1:n.873C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS762930" }, { "coordinates": [ { "allele": "T", "end": 873, "referenceAllele": "C", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000636413.1:c.568C>T" ], "proteinEffect": { "hgvs": "ENSP00000490508.1:p.Arg190Ter", "hgvsWellDefined": "ENSP00000490508.1:p.Arg190_Met1102delinsIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763096" }, { "coordinates": [ { "allele": "T", "end": 1397, "referenceAllele": "C", "start": 1396 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000636471.1:c.904C>T" ], "proteinEffect": { "hgvs": "ENSP00000490317.1:p.Arg302Ter", "hgvsWellDefined": "ENSP00000490317.1:p.Arg302_Met1239delinsIleHisSerAspSerSerLeuGlyArgGlnLeuGlnLeuLeuSerAsnGlnGlyAsnValThrValIleLeuIleIleIleLeuGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763137" }, { "coordinates": [ { "allele": "T", "end": 1191, "referenceAllele": "C", "start": 1190 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000636732.2:c.*621C>T" ], "proteinEffect": { "hgvs": "ENSP00000490175.1:n.*621C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS763342" }, { "coordinates": [ { "allele": "T", "end": 1004, "referenceAllele": "C", "start": 1003 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000636820.1:n.1004C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS763406" }, { "coordinates": [ { "allele": "T", "end": 980, "referenceAllele": "C", "start": 979 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000637045.1:c.568C>T" ], "proteinEffect": { "hgvs": "ENSP00000490141.1:p.Arg190Ter", "hgvsWellDefined": "ENSP00000490141.1:p.Arg190_Met1102delinsIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763570" }, { "coordinates": [ { "allele": "T", "end": 1745, "referenceAllele": "C", "start": 1744 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000637267.2:c.904C>T" ], "proteinEffect": { "hgvs": "ENSP00000490293.2:p.Arg302Ter", "hgvsWellDefined": "ENSP00000490293.2:p.Arg302_Ala612del" }, "referenceSequence": "http://reg.genome.network/refseq/RS763741" }, { "coordinates": [ { "allele": "T", "end": 1047, "referenceAllele": "C", "start": 1046 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000637304.1:c.568C>T" ], "proteinEffect": { "hgvs": "ENSP00000490872.1:p.Arg190Ter", "hgvsWellDefined": "ENSP00000490872.1:p.Arg190_Met1102delinsIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763767" }, { "coordinates": [ { "allele": "T", "end": 1029, "referenceAllele": "C", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000638007.1:c.568C>T" ], "proteinEffect": { "hgvs": "ENSP00000490723.1:p.Arg190Ter", "hgvsWellDefined": "ENSP00000490723.1:p.Arg190_Met1102delinsIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764270" }, { "coordinates": [ { "allele": "T", "end": 1228, "referenceAllele": "C", "start": 1227 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000638087.1:c.568C>T" ], "proteinEffect": { "hgvs": "ENSP00000490673.1:p.Arg190Ter", "hgvsWellDefined": "ENSP00000490673.1:p.Arg190_Met1102delinsIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764332" }, { "coordinates": [ { "allele": "T", "end": 821, "referenceAllele": "C", "start": 820 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000638128.1:c.127C>T" ], "proteinEffect": { "hgvs": "ENSP00000490934.1:p.Arg43Ter", "hgvsWellDefined": "ENSP00000490934.1:p.Arg43_Met955delinsIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764361" }, { "coordinates": [ { "allele": "T", "end": 223, "endIntronDirection": "-", "endIntronOffset": 2360, "referenceAllele": "C", "start": 223, "startIntronDirection": "-", "startIntronOffset": 2361 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000675069.1:c.-133-2361C>T" ], "proteinEffect": { "hgvs": "ENSP00000502467.1:n.-133-2361C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774941" }, { "coordinates": [ { "allele": "T", "end": 1452, "referenceAllele": "C", "start": 1451 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000675145.1:n.1452C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775011" }, { "coordinates": [ { "allele": "T", "end": 1038, "referenceAllele": "C", "start": 1037 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000303660.8:c.901C>T" ], "proteinEffect": { "hgvs": "ENSP00000302501.4:p.Arg301Ter", "hgvsWellDefined": "ENSP00000302501.4:p.Arg301_Met1213delinsIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255344" }, { "coordinates": [ { "allele": "T", "end": 1101, "referenceAllele": "C", "start": 1100 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000392861.6:c.988C>T" ], "proteinEffect": { "hgvs": "ENSP00000376601.3:p.Arg330Ter", "hgvsWellDefined": "ENSP00000376601.3:p.Arg330_Leu467del" }, "referenceSequence": "http://reg.genome.network/refseq/RS275325" }, { "coordinates": [ { "allele": "T", "end": 1187, "referenceAllele": "C", "start": 1186 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000409487.7:c.904C>T" ], "proteinEffect": { "hgvs": "ENSP00000386854.2:p.Arg302Ter", "hgvsWellDefined": "ENSP00000386854.2:p.Arg302_Met1214delinsIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281594" }, { "coordinates": [ { "allele": "T", "end": 876, "referenceAllele": "C", "start": 875 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000419938.5:c.643C>T" ], "proteinEffect": { "hgvs": "ENSP00000394777.2:p.Arg215Ter", "hgvsWellDefined": "ENSP00000394777.2:p.Arg215_Thr220delinsIleHisSerGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS286101" }, { "coordinates": [ { "allele": "T", "end": 1033, "referenceAllele": "C", "start": 1032 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000427902.5:c.991C>T" ], "proteinEffect": { "hgvs": "ENSP00000395496.2:p.Arg331Ter", "hgvsWellDefined": "ENSP00000395496.2:p.Arg331Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS289932" }, { "coordinates": [ { "allele": "T", "end": 1426, "referenceAllele": "C", "start": 1425 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000440875.5:c.889C>T" ], "proteinEffect": { "hgvs": "ENSP00000475553.2:p.Arg297Ter", "hgvsWellDefined": "ENSP00000475553.2:p.Arg297_Ser423delinsIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysAsnSerArgArgGlnTrpLeuMetProValIleProAlaLeuTrpGluAlaAsnGluGlyGlySerGlyGlnGluPheGluThrSerLeuAlaAsnMetValLysHisHisLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS296105" }, { "coordinates": [ { "allele": "T", "end": 1082, "referenceAllele": "C", "start": 1081 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000539609.7:c.832C>T" ], "proteinEffect": { "hgvs": "ENSP00000443792.2:p.Arg278Ter", "hgvsWellDefined": "ENSP00000443792.2:p.Arg278_Met1190delinsIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS361949" }, { "coordinates": [ { "allele": "T", "end": 1105, "referenceAllele": "C", "start": 1104 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000558170.6:c.904C>T" ], "proteinEffect": { "hgvs": "ENSP00000454157.1:p.Arg302Ter", "hgvsWellDefined": "ENSP00000454157.1:p.Arg302_Met1214delinsIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS373604" }, { "coordinates": [ { "allele": "T", "end": 1430, "referenceAllele": "C", "start": 1429 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000627532.2:c.904C>T" ], "proteinEffect": { "hgvs": "ENSP00000487174.1:p.Arg302Ter", "hgvsWellDefined": "ENSP00000487174.1:p.Arg302_Met1214delinsIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS406905" }, { "@id": "http://reg.genome.network/allele/PA2826086687", "coordinates": [ { "allele": "T", "end": 1354, "referenceAllele": "C", "start": 1353 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "NM_001171653.1:c.832C>T" ], "proteinEffect": { "hgvs": "NP_001165124.1:p.Arg278Ter", "hgvsWellDefined": "NP_001165124.1:p.Arg278_Met1190delinsIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015347" }, { "@id": "http://reg.genome.network/allele/PA235590", "coordinates": [ { "allele": "T", "end": 1426, "referenceAllele": "C", "start": 1425 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "NM_014795.3:c.904C>T" ], "proteinEffect": { "hgvs": "NP_055610.1:p.Arg302Ter", "hgvsWellDefined": "NP_055610.1:p.Arg302_Met1214delinsIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033472" }, { "coordinates": [ { "allele": "T", "end": 1030, "referenceAllele": "C", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "XM_006712881.2:c.904C>T" ], "proteinEffect": { "hgvs": "XP_006712944.1:p.Arg302Ter", "hgvsWellDefined": "XP_006712944.1:p.Arg302_Met1214delinsIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069897" }, { "coordinates": [ { "allele": "T", "end": 1112, "referenceAllele": "C", "start": 1111 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "XM_006712882.2:c.904C>T" ], "proteinEffect": { "hgvs": "XP_006712945.1:p.Arg302Ter", "hgvsWellDefined": "XP_006712945.1:p.Arg302_Met1214delinsIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069898" }, { "coordinates": [ { "allele": "T", "end": 910, "referenceAllele": "C", "start": 909 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "XM_011512231.1:c.895C>T" ], "proteinEffect": { "hgvs": "XP_011510533.1:p.Arg299Ter", "hgvsWellDefined": "XP_011510533.1:p.Arg299_Met1211delinsIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079489" }, { "coordinates": [ { "allele": "T", "end": 1286, "referenceAllele": "C", "start": 1285 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "XM_011512232.1:c.883C>T" ], "proteinEffect": { "hgvs": "XP_011510534.1:p.Arg295Ter", "hgvsWellDefined": "XP_011510534.1:p.Arg295_Met1207delinsIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079490" }, { "@id": "http://reg.genome.network/allele/PA235590", "coordinates": [ { "allele": "T", "end": 1154, "referenceAllele": "C", "start": 1153 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "NM_014795.4:c.904C>T" ], "proteinEffect": { "hgvs": "NP_055610.1:p.Arg302Ter", "hgvsWellDefined": "NP_055610.1:p.Arg302_Met1214delinsIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668501", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000627532.3:c.904C>T" }, "RefSeq": { "hgvs": "NM_014795.4:c.904C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000487174.1:p.Arg302Ter" }, "RefSeq": { "hgvs": "NP_055610.1:p.Arg302Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826086687", "coordinates": [ { "allele": "T", "end": 1082, "referenceAllele": "C", "start": 1081 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "NM_001171653.2:c.832C>T" ], "proteinEffect": { "hgvs": "NP_001165124.1:p.Arg278Ter", "hgvsWellDefined": "NP_001165124.1:p.Arg278_Met1190delinsIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678702" } ], "type": "nucleotide" }