{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA273388", "communityStandardTitle": [ "NM_014795.4(ZEB2):c.930C>A (p.Tyr310Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=178162[alleleid]", "alleleId": 178162, "preferredName": "NM_014795.4(ZEB2):c.930C>A (p.Tyr310Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/167857", "RCV": [ "RCV000154157" ], "variationId": 167857 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.145157824G>T?assembly=hg19", "id": "chr2:g.145157824G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.144400257G>T?assembly=hg38", "id": "chr2:g.144400257G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/6711223", "rs": 6711223 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 144400257, "referenceAllele": "G", "start": 144400256 } ], "hgvs": [ "NC_000002.12:g.144400257G>T", "CM000664.2:g.144400257G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 145157824, "referenceAllele": "G", "start": 145157823 } ], "hgvs": [ "NC_000002.11:g.145157824G>T", "CM000664.1:g.145157824G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 144874294, "referenceAllele": "G", "start": 144874293 } ], "hgvs": [ "NC_000002.10:g.144874294G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 125135, "referenceAllele": "C", "start": 125134 } ], "hgvs": [ "NG_016431.1:g.125135C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003185" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1137, "referenceAllele": "C", "start": 1136 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000689298.1:c.*779C>A" ], "proteinEffect": { "hgvs": "ENSP00000508434.1:n.*779C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832097" }, { "coordinates": [ { "allele": "A", "end": 907, "referenceAllele": "C", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000440875.6:c.153C>A" ], "proteinEffect": { "hgvs": "ENSP00000475553.3:p.Tyr51Ter", "hgvsWellDefined": "ENSP00000475553.3:p.Tyr51_Met955delinsGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755814" }, { "coordinates": [ { "allele": "A", "end": 1180, "referenceAllele": "C", "start": 1179 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000627532.3:c.930C>A" ], "proteinEffect": { "hgvs": "ENSP00000487174.1:p.Tyr310Ter", "hgvsWellDefined": "ENSP00000487174.1:p.Tyr310_Met1214delinsGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762493", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000627532.3:c.930C>A" }, "RefSeq": { "hgvs": "NM_014795.4:c.930C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000487174.1:p.Tyr310Ter" }, "RefSeq": { "hgvs": "NP_055610.1:p.Tyr310Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1459, "referenceAllele": "C", "start": 1458 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000636026.2:c.930C>A" ], "proteinEffect": { "hgvs": "ENSP00000490776.1:p.Tyr310Ter", "hgvsWellDefined": "ENSP00000490776.1:p.Tyr310_Cys1202delinsGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgAlaLeuProLeuArgGlyThrLeuThrArgArgArgGlyArgValCysArgGlyMetAlaArgAlaArgArgSerThrArgLysLysAlaArgMetAlaThrGlySerTrpAlaAspArgMetAlaThrArgSerSerArgArgLysArgLysLysValLysIleLysValTrpIleArgIleProLysArgTyrGluMetLysLysArgLeuGluIleThrProTrpThrIleValArgArgMetGlyLysTrpLysProAsnGlnThrThrArgLysThrIleTrpLysMetAlaCysAsnLysLeuLeuHisPheLysLeuProIlePhePheSerSerSerIleValThrCysLeuLysThrLeuLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762819" }, { "coordinates": [ { "allele": "A", "end": 899, "referenceAllele": "C", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000636179.1:n.899C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS762930" }, { "coordinates": [ { "allele": "A", "end": 899, "referenceAllele": "C", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000636413.1:c.594C>A" ], "proteinEffect": { "hgvs": "ENSP00000490508.1:p.Tyr198Ter", "hgvsWellDefined": "ENSP00000490508.1:p.Tyr198_Met1102delinsGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763096" }, { "coordinates": [ { "allele": "A", "end": 1498, "referenceAllele": "C", "start": 1497 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000636471.1:c.1005C>A" ], "proteinEffect": { "hgvs": "ENSP00000490317.1:p.Tyr335Ter", "hgvsWellDefined": "ENSP00000490317.1:p.Tyr335_Met1239delinsGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763137" }, { "coordinates": [ { "allele": "A", "end": 1217, "referenceAllele": "C", "start": 1216 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000636732.2:c.*647C>A" ], "proteinEffect": { "hgvs": "ENSP00000490175.1:n.*647C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS763342" }, { "coordinates": [ { "allele": "A", "end": 1030, "referenceAllele": "C", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000636820.1:n.1030C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763406" }, { "coordinates": [ { "allele": "A", "end": 1006, "referenceAllele": "C", "start": 1005 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000637045.1:c.594C>A" ], "proteinEffect": { "hgvs": "ENSP00000490141.1:p.Tyr198Ter", "hgvsWellDefined": "ENSP00000490141.1:p.Tyr198_Met1102delinsGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763570" }, { "coordinates": [ { "allele": "A", "end": 1771, "referenceAllele": "C", "start": 1770 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000637267.2:c.930C>A" ], "proteinEffect": { "hgvs": "ENSP00000490293.2:p.Tyr310Ter", "hgvsWellDefined": "ENSP00000490293.2:p.Tyr310_Ala612del" }, "referenceSequence": "http://reg.genome.network/refseq/RS763741" }, { "coordinates": [ { "allele": "A", "end": 1073, "referenceAllele": "C", "start": 1072 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000637304.1:c.594C>A" ], "proteinEffect": { "hgvs": "ENSP00000490872.1:p.Tyr198Ter", "hgvsWellDefined": "ENSP00000490872.1:p.Tyr198_Met1102delinsGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763767" }, { "coordinates": [ { "allele": "A", "end": 1055, "referenceAllele": "C", "start": 1054 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000638007.1:c.594C>A" ], "proteinEffect": { "hgvs": "ENSP00000490723.1:p.Tyr198Ter", "hgvsWellDefined": "ENSP00000490723.1:p.Tyr198_Met1102delinsGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764270" }, { "coordinates": [ { "allele": "A", "end": 1254, "referenceAllele": "C", "start": 1253 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000638087.1:c.594C>A" ], "proteinEffect": { "hgvs": "ENSP00000490673.1:p.Tyr198Ter", "hgvsWellDefined": "ENSP00000490673.1:p.Tyr198_Met1102delinsGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764332" }, { "coordinates": [ { "allele": "A", "end": 847, "referenceAllele": "C", "start": 846 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000638128.1:c.153C>A" ], "proteinEffect": { "hgvs": "ENSP00000490934.1:p.Tyr51Ter", "hgvsWellDefined": "ENSP00000490934.1:p.Tyr51_Met955delinsGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764361" }, { "coordinates": [ { "allele": "A", "end": 223, "endIntronDirection": "-", "endIntronOffset": 1406, "referenceAllele": "C", "start": 223, "startIntronDirection": "-", "startIntronOffset": 1407 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000675069.1:c.-133-1407C>A" ], "proteinEffect": { "hgvs": "ENSP00000502467.1:n.-133-1407C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS774941" }, { "coordinates": [ { "allele": "A", "end": 1478, "referenceAllele": "C", "start": 1477 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000675145.1:n.1478C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775011" }, { "coordinates": [ { "allele": "A", "end": 1064, "referenceAllele": "C", "start": 1063 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000303660.8:c.927C>A" ], "proteinEffect": { "hgvs": "ENSP00000302501.4:p.Tyr309Ter", "hgvsWellDefined": "ENSP00000302501.4:p.Tyr309_Met1213delinsGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255344" }, { "coordinates": [ { "allele": "A", "end": 1127, "referenceAllele": "C", "start": 1126 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000392861.6:c.1014C>A" ], "proteinEffect": { "hgvs": "ENSP00000376601.3:p.Tyr338Ter", "hgvsWellDefined": "ENSP00000376601.3:p.Tyr338_Leu467del" }, "referenceSequence": "http://reg.genome.network/refseq/RS275325" }, { "coordinates": [ { "allele": "A", "end": 1213, "referenceAllele": "C", "start": 1212 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000409487.7:c.930C>A" ], "proteinEffect": { "hgvs": "ENSP00000386854.2:p.Tyr310Ter", "hgvsWellDefined": "ENSP00000386854.2:p.Tyr310_Met1214delinsGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281594" }, { "coordinates": [ { "allele": "A", "end": 888, "endIntronDirection": "+", "endIntronOffset": 942, "referenceAllele": "C", "start": 888, "startIntronDirection": "+", "startIntronOffset": 941 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000419938.5:c.655+942C>A" ], "proteinEffect": { "hgvs": "ENSP00000394777.2:n.655+942C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS286101" }, { "coordinates": [ { "allele": "A", "end": 1059, "referenceAllele": "C", "start": 1058 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000427902.5:c.1017C>A" ], "proteinEffect": { "hgvs": "ENSP00000395496.2:p.Tyr339Ter", "hgvsWellDefined": "ENSP00000395496.2:p.Tyr339Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS289932" }, { "coordinates": [ { "allele": "A", "end": 1452, "referenceAllele": "C", "start": 1451 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000440875.5:c.915C>A" ], "proteinEffect": { "hgvs": "ENSP00000475553.2:p.Tyr305Ter", "hgvsWellDefined": "ENSP00000475553.2:p.Tyr305_Ser423delinsGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysAsnSerArgArgGlnTrpLeuMetProValIleProAlaLeuTrpGluAlaAsnGluGlyGlySerGlyGlnGluPheGluThrSerLeuAlaAsnMetValLysHisHisLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS296105" }, { "coordinates": [ { "allele": "A", "end": 1108, "referenceAllele": "C", "start": 1107 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000539609.7:c.858C>A" ], "proteinEffect": { "hgvs": "ENSP00000443792.2:p.Tyr286Ter", "hgvsWellDefined": "ENSP00000443792.2:p.Tyr286_Met1190delinsGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS361949" }, { "coordinates": [ { "allele": "A", "end": 1131, "referenceAllele": "C", "start": 1130 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000558170.6:c.930C>A" ], "proteinEffect": { "hgvs": "ENSP00000454157.1:p.Tyr310Ter", "hgvsWellDefined": "ENSP00000454157.1:p.Tyr310_Met1214delinsGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS373604" }, { "coordinates": [ { "allele": "A", "end": 1456, "referenceAllele": "C", "start": 1455 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000627532.2:c.930C>A" ], "proteinEffect": { "hgvs": "ENSP00000487174.1:p.Tyr310Ter", "hgvsWellDefined": "ENSP00000487174.1:p.Tyr310_Met1214delinsGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS406905" }, { "@id": "http://reg.genome.network/allele/PA2826086701", "coordinates": [ { "allele": "A", "end": 1380, "referenceAllele": "C", "start": 1379 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "NM_001171653.1:c.858C>A" ], "proteinEffect": { "hgvs": "NP_001165124.1:p.Tyr286Ter", "hgvsWellDefined": "NP_001165124.1:p.Tyr286_Met1190delinsGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015347" }, { "@id": "http://reg.genome.network/allele/PA273389", "coordinates": [ { "allele": "A", "end": 1452, "referenceAllele": "C", "start": 1451 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "NM_014795.3:c.930C>A" ], "proteinEffect": { "hgvs": "NP_055610.1:p.Tyr310Ter", "hgvsWellDefined": "NP_055610.1:p.Tyr310_Met1214delinsGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033472" }, { "coordinates": [ { "allele": "A", "end": 1056, "referenceAllele": "C", "start": 1055 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "XM_006712881.2:c.930C>A" ], "proteinEffect": { "hgvs": "XP_006712944.1:p.Tyr310Ter", "hgvsWellDefined": "XP_006712944.1:p.Tyr310_Met1214delinsGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069897" }, { "coordinates": [ { "allele": "A", "end": 1138, "referenceAllele": "C", "start": 1137 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "XM_006712882.2:c.930C>A" ], "proteinEffect": { "hgvs": "XP_006712945.1:p.Tyr310Ter", "hgvsWellDefined": "XP_006712945.1:p.Tyr310_Met1214delinsGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069898" }, { "coordinates": [ { "allele": "A", "end": 936, "referenceAllele": "C", "start": 935 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "XM_011512231.1:c.921C>A" ], "proteinEffect": { "hgvs": "XP_011510533.1:p.Tyr307Ter", "hgvsWellDefined": "XP_011510533.1:p.Tyr307_Met1211delinsGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079489" }, { "coordinates": [ { "allele": "A", "end": 1312, "referenceAllele": "C", "start": 1311 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "XM_011512232.1:c.909C>A" ], "proteinEffect": { "hgvs": "XP_011510534.1:p.Tyr303Ter", "hgvsWellDefined": "XP_011510534.1:p.Tyr303_Met1207delinsGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079490" }, { "@id": "http://reg.genome.network/allele/PA273389", "coordinates": [ { "allele": "A", "end": 1180, "referenceAllele": "C", "start": 1179 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "NM_014795.4:c.930C>A" ], "proteinEffect": { "hgvs": "NP_055610.1:p.Tyr310Ter", "hgvsWellDefined": "NP_055610.1:p.Tyr310_Met1214delinsGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668501", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000627532.3:c.930C>A" }, "RefSeq": { "hgvs": "NM_014795.4:c.930C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000487174.1:p.Tyr310Ter" }, "RefSeq": { "hgvs": "NP_055610.1:p.Tyr310Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826086701", "coordinates": [ { "allele": "A", "end": 1108, "referenceAllele": "C", "start": 1107 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "NM_001171653.2:c.858C>A" ], "proteinEffect": { "hgvs": "NP_001165124.1:p.Tyr286Ter", "hgvsWellDefined": "NP_001165124.1:p.Tyr286_Met1190delinsGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678702" } ], "type": "nucleotide" }