{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA267207", "communityStandardTitle": [ "NM_014795.4(ZEB2):c.1381C>T (p.Gln461Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=101518[alleleid]", "alleleId": 101518, "preferredName": "NM_014795.4(ZEB2):c.1381C>T (p.Gln461Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/95620", "RCV": [ "RCV000081653", "RCV001387154" ], "variationId": 95620 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.145157373G>A?assembly=hg19", "id": "chr2:g.145157373G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.144399806G>A?assembly=hg38", "id": "chr2:g.144399806G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/398124274", "rs": 398124274 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 144399806, "referenceAllele": "G", "start": 144399805 } ], "hgvs": [ "NC_000002.12:g.144399806G>A", "CM000664.2:g.144399806G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 145157373, "referenceAllele": "G", "start": 145157372 } ], "hgvs": [ "NC_000002.11:g.145157373G>A", "CM000664.1:g.145157373G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 144873843, "referenceAllele": "G", "start": 144873842 } ], "hgvs": [ "NC_000002.10:g.144873843G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 125586, "referenceAllele": "C", "start": 125585 } ], "hgvs": [ "NG_016431.1:g.125586C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003185" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1588, "referenceAllele": "C", "start": 1587 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000689298.1:c.*1230C>T" ], "proteinEffect": { "hgvs": "ENSP00000508434.1:n.*1230C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS832097" }, { "coordinates": [ { "allele": "T", "end": 1358, "referenceAllele": "C", "start": 1357 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000440875.6:c.604C>T" ], "proteinEffect": { "hgvs": "ENSP00000475553.3:p.Gln202Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS755814" }, { "coordinates": [ { "allele": "T", "end": 1631, "referenceAllele": "C", "start": 1630 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000627532.3:c.1381C>T" ], "proteinEffect": { "hgvs": "ENSP00000487174.1:p.Gln461Ter", "hgvsWellDefined": "ENSP00000487174.1:p.Gln461_Met1214delinsLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762493", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000627532.3:c.1381C>T" }, "RefSeq": { "hgvs": "NM_014795.4:c.1381C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000487174.1:p.Gln461Ter" }, "RefSeq": { "hgvs": "NP_055610.1:p.Gln461Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1910, "referenceAllele": "C", "start": 1909 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000636026.2:c.1381C>T" ], "proteinEffect": { "hgvs": "ENSP00000490776.1:p.Gln461Ter", "hgvsWellDefined": "ENSP00000490776.1:p.Gln461_Cys1202delinsLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgAlaLeuProLeuArgGlyThrLeuThrArgArgArgGlyArgValCysArgGlyMetAlaArgAlaArgArgSerThrArgLysLysAlaArgMetAlaThrGlySerTrpAlaAspArgMetAlaThrArgSerSerArgArgLysArgLysLysValLysIleLysValTrpIleArgIleProLysArgTyrGluMetLysLysArgLeuGluIleThrProTrpThrIleValArgArgMetGlyLysTrpLysProAsnGlnThrThrArgLysThrIleTrpLysMetAlaCysAsnLysLeuLeuHisPheLysLeuProIlePhePheSerSerSerIleValThrCysLeuLysThrLeuLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762819" }, { "coordinates": [ { "allele": "T", "end": 1350, "referenceAllele": "C", "start": 1349 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000636179.1:n.1350C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS762930" }, { "coordinates": [ { "allele": "T", "end": 1350, "referenceAllele": "C", "start": 1349 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000636413.1:c.1045C>T" ], "proteinEffect": { "hgvs": "ENSP00000490508.1:p.Gln349Ter", "hgvsWellDefined": "ENSP00000490508.1:p.Gln349_Met1102delinsLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763096" }, { "coordinates": [ { "allele": "T", "end": 1949, "referenceAllele": "C", "start": 1948 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000636471.1:c.1456C>T" ], "proteinEffect": { "hgvs": "ENSP00000490317.1:p.Gln486Ter", "hgvsWellDefined": "ENSP00000490317.1:p.Gln486_Met1239delinsLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763137" }, { "coordinates": [ { "allele": "T", "end": 1668, "referenceAllele": "C", "start": 1667 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000636732.2:c.*1098C>T" ], "proteinEffect": { "hgvs": "ENSP00000490175.1:n.*1098C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS763342" }, { "coordinates": [ { "allele": "T", "end": 1481, "referenceAllele": "C", "start": 1480 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000636820.1:n.1481C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS763406" }, { "coordinates": [ { "allele": "T", "end": 1457, "referenceAllele": "C", "start": 1456 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000637045.1:c.1045C>T" ], "proteinEffect": { "hgvs": "ENSP00000490141.1:p.Gln349Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS763570" }, { "coordinates": [ { "allele": "T", "end": 2222, "referenceAllele": "C", "start": 2221 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000637267.2:c.1381C>T" ], "proteinEffect": { "hgvs": "ENSP00000490293.2:p.Gln461Ter", "hgvsWellDefined": "ENSP00000490293.2:p.Gln461_Ala612del" }, "referenceSequence": "http://reg.genome.network/refseq/RS763741" }, { "coordinates": [ { "allele": "T", "end": 1524, "referenceAllele": "C", "start": 1523 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000637304.1:c.1045C>T" ], "proteinEffect": { "hgvs": "ENSP00000490872.1:p.Gln349Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS763767" }, { "coordinates": [ { "allele": "T", "end": 1506, "referenceAllele": "C", "start": 1505 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000638007.1:c.1045C>T" ], "proteinEffect": { "hgvs": "ENSP00000490723.1:p.Gln349Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS764270" }, { "coordinates": [ { "allele": "T", "end": 1705, "referenceAllele": "C", "start": 1704 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000638087.1:c.1045C>T" ], "proteinEffect": { "hgvs": "ENSP00000490673.1:p.Gln349Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS764332" }, { "coordinates": [ { "allele": "T", "end": 1298, "referenceAllele": "C", "start": 1297 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000638128.1:c.604C>T" ], "proteinEffect": { "hgvs": "ENSP00000490934.1:p.Gln202Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS361949" }, { "coordinates": [ { "allele": "T", "end": 1582, "referenceAllele": "C", "start": 1581 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000558170.6:c.1381C>T" ], "proteinEffect": { "hgvs": "ENSP00000454157.1:p.Gln461Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS373604" }, { "coordinates": [ { "allele": "T", "end": 1907, "referenceAllele": "C", "start": 1906 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000627532.2:c.1381C>T" ], "proteinEffect": { "hgvs": "ENSP00000487174.1:p.Gln461Ter", "hgvsWellDefined": "ENSP00000487174.1:p.Gln461_Met1214delinsLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS406905" }, { "@id": "http://reg.genome.network/allele/PA2826086953", "coordinates": [ { "allele": "T", "end": 1831, "referenceAllele": "C", "start": 1830 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "NM_001171653.1:c.1309C>T" ], "proteinEffect": { "hgvs": "NP_001165124.1:p.Gln437Ter", "hgvsWellDefined": "NP_001165124.1:p.Gln437_Met1190delinsLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015347" }, { "@id": "http://reg.genome.network/allele/PA267208", "coordinates": [ { "allele": "T", "end": 1903, "referenceAllele": "C", "start": 1902 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "NM_014795.3:c.1381C>T" ], "proteinEffect": { "hgvs": "NP_055610.1:p.Gln461Ter", "hgvsWellDefined": "NP_055610.1:p.Gln461_Met1214delinsLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033472" }, { "coordinates": [ { "allele": "T", "end": 1507, "referenceAllele": "C", "start": 1506 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "XM_006712881.2:c.1381C>T" ], "proteinEffect": { "hgvs": "XP_006712944.1:p.Gln461Ter", "hgvsWellDefined": "XP_006712944.1:p.Gln461_Met1214delinsLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069897" }, { "coordinates": [ { "allele": "T", "end": 1589, "referenceAllele": "C", "start": 1588 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "XM_006712882.2:c.1381C>T" ], "proteinEffect": { "hgvs": "XP_006712945.1:p.Gln461Ter", "hgvsWellDefined": "XP_006712945.1:p.Gln461_Met1214delinsLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069898" }, { "coordinates": [ { "allele": "T", "end": 1387, "referenceAllele": "C", "start": 1386 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "XM_011512231.1:c.1372C>T" ], "proteinEffect": { "hgvs": "XP_011510533.1:p.Gln458Ter", "hgvsWellDefined": "XP_011510533.1:p.Gln458_Met1211delinsLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079489" }, { "coordinates": [ { "allele": "T", "end": 1763, "referenceAllele": "C", "start": 1762 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "XM_011512232.1:c.1360C>T" ], "proteinEffect": { "hgvs": "XP_011510534.1:p.Gln454Ter", "hgvsWellDefined": "XP_011510534.1:p.Gln454_Met1207delinsLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079490" }, { "@id": "http://reg.genome.network/allele/PA267208", "coordinates": [ { "allele": "T", "end": 1631, "referenceAllele": "C", "start": 1630 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "NM_014795.4:c.1381C>T" ], "proteinEffect": { "hgvs": "NP_055610.1:p.Gln461Ter", "hgvsWellDefined": "NP_055610.1:p.Gln461_Met1214delinsLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668501", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000627532.3:c.1381C>T" }, "RefSeq": { "hgvs": "NM_014795.4:c.1381C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000487174.1:p.Gln461Ter" }, "RefSeq": { "hgvs": "NP_055610.1:p.Gln461Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826086953", "coordinates": [ { "allele": "T", "end": 1559, "referenceAllele": "C", "start": 1558 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "NM_001171653.2:c.1309C>T" ], "proteinEffect": { "hgvs": "NP_001165124.1:p.Gln437Ter", "hgvsWellDefined": "NP_001165124.1:p.Gln437_Met1190delinsLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678702" } ], "type": "nucleotide" }