{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA267217", "communityStandardTitle": [ "NM_014795.4(ZEB2):c.805C>T (p.Gln269Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=101539[alleleid]", "alleleId": 101539, "preferredName": "NM_014795.4(ZEB2):c.805C>T (p.Gln269Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/95641", "RCV": [ "RCV000081675" ], "variationId": 95641 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.145161485G>A?assembly=hg19", "id": "chr2:g.145161485G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.144403918G>A?assembly=hg38", "id": "chr2:g.144403918G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/398124284", "rs": 398124284 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 144403918, "referenceAllele": "G", "start": 144403917 } ], "hgvs": [ "NC_000002.12:g.144403918G>A", "CM000664.2:g.144403918G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 145161485, "referenceAllele": "G", "start": 145161484 } ], "hgvs": [ "NC_000002.11:g.145161485G>A", "CM000664.1:g.145161485G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 144877955, "referenceAllele": "G", "start": 144877954 } ], "hgvs": [ "NC_000002.10:g.144877955G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 121474, "referenceAllele": "C", "start": 121473 } ], "hgvs": [ "NG_016431.1:g.121474C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003185" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1012, "referenceAllele": "C", "start": 1011 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000689298.1:c.*654C>T" ], "proteinEffect": { "hgvs": "ENSP00000508434.1:n.*654C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS832097" }, { "coordinates": [ { "allele": "T", "end": 782, "referenceAllele": "C", "start": 781 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000440875.6:c.28C>T" ], "proteinEffect": { "hgvs": "ENSP00000475553.3:p.Gln10Ter", "hgvsWellDefined": "ENSP00000475553.3:p.Gln10_Met955delinsHisGlnMetLeuThrGlnGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755814" }, { "coordinates": [ { "allele": "T", "end": 1055, "referenceAllele": "C", "start": 1054 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000627532.3:c.805C>T" ], "proteinEffect": { "hgvs": "ENSP00000487174.1:p.Gln269Ter", "hgvsWellDefined": "ENSP00000487174.1:p.Gln269_Met1214delinsHisGlnMetLeuThrGlnGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762493", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000627532.3:c.805C>T" }, "RefSeq": { "hgvs": "NM_014795.4:c.805C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000487174.1:p.Gln269Ter" }, "RefSeq": { "hgvs": "NP_055610.1:p.Gln269Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1334, "referenceAllele": "C", "start": 1333 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000636026.2:c.805C>T" ], "proteinEffect": { "hgvs": "ENSP00000490776.1:p.Gln269Ter", "hgvsWellDefined": "ENSP00000490776.1:p.Gln269_Cys1202delinsHisGlnMetLeuThrGlnGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgAlaLeuProLeuArgGlyThrLeuThrArgArgArgGlyArgValCysArgGlyMetAlaArgAlaArgArgSerThrArgLysLysAlaArgMetAlaThrGlySerTrpAlaAspArgMetAlaThrArgSerSerArgArgLysArgLysLysValLysIleLysValTrpIleArgIleProLysArgTyrGluMetLysLysArgLeuGluIleThrProTrpThrIleValArgArgMetGlyLysTrpLysProAsnGlnThrThrArgLysThrIleTrpLysMetAlaCysAsnLysLeuLeuHisPheLysLeuProIlePhePheSerSerSerIleValThrCysLeuLysThrLeuLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762819" }, { "coordinates": [ { "allele": "T", "end": 774, "referenceAllele": "C", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000636179.1:n.774C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS762930" }, { "coordinates": [ { "allele": "T", "end": 774, "referenceAllele": "C", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000636413.1:c.469C>T" ], "proteinEffect": { "hgvs": "ENSP00000490508.1:p.Gln157Ter", "hgvsWellDefined": "ENSP00000490508.1:p.Gln157_Met1102delinsHisGlnMetLeuThrGlnGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763096" }, { "coordinates": [ { "allele": "T", "end": 1298, "referenceAllele": "C", "start": 1297 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000636471.1:c.805C>T" ], "proteinEffect": { "hgvs": "ENSP00000490317.1:p.Gln269Ter", "hgvsWellDefined": "ENSP00000490317.1:p.Gln269_Met1239delinsHisGlnMetLeuThrGlnGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerAspSerSerLeuGlyArgGlnLeuGlnLeuLeuSerAsnGlnGlyAsnValThrValIleLeuIleIleIleLeuGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763137" }, { "coordinates": [ { "allele": "T", "end": 1092, "referenceAllele": "C", "start": 1091 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000636732.2:c.*522C>T" ], "proteinEffect": { "hgvs": "ENSP00000490175.1:n.*522C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS763342" }, { "coordinates": [ { "allele": "T", "end": 905, "referenceAllele": "C", "start": 904 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000636820.1:n.905C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS763406" }, { "coordinates": [ { "allele": "T", "end": 881, "referenceAllele": "C", "start": 880 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000637045.1:c.469C>T" ], "proteinEffect": { "hgvs": "ENSP00000490141.1:p.Gln157Ter", "hgvsWellDefined": "ENSP00000490141.1:p.Gln157_Met1102delinsHisGlnMetLeuThrGlnGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763570" }, { "coordinates": [ { "allele": "T", "end": 1646, "referenceAllele": "C", "start": 1645 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000637267.2:c.805C>T" ], "proteinEffect": { "hgvs": "ENSP00000490293.2:p.Gln269Ter", "hgvsWellDefined": "ENSP00000490293.2:p.Gln269_Ala612del" }, "referenceSequence": "http://reg.genome.network/refseq/RS763741" }, { "coordinates": [ { "allele": "T", "end": 948, "referenceAllele": "C", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000637304.1:c.469C>T" ], "proteinEffect": { "hgvs": "ENSP00000490872.1:p.Gln157Ter", "hgvsWellDefined": "ENSP00000490872.1:p.Gln157_Met1102delinsHisGlnMetLeuThrGlnGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763767" }, { "coordinates": [ { "allele": "T", "end": 930, "referenceAllele": "C", "start": 929 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000638007.1:c.469C>T" ], "proteinEffect": { "hgvs": "ENSP00000490723.1:p.Gln157Ter", "hgvsWellDefined": "ENSP00000490723.1:p.Gln157_Met1102delinsHisGlnMetLeuThrGlnGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764270" }, { "coordinates": [ { "allele": "T", "end": 1129, "referenceAllele": "C", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000638087.1:c.469C>T" ], "proteinEffect": { "hgvs": "ENSP00000490673.1:p.Gln157Ter", "hgvsWellDefined": "ENSP00000490673.1:p.Gln157_Met1102delinsHisGlnMetLeuThrGlnGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764332" }, { "coordinates": [ { "allele": "T", "end": 722, "referenceAllele": "C", "start": 721 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000638128.1:c.28C>T" ], "proteinEffect": { "hgvs": "ENSP00000490934.1:p.Gln10Ter", "hgvsWellDefined": "ENSP00000490934.1:p.Gln10_Met955delinsHisGlnMetLeuThrGlnGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764361" }, { "coordinates": [ { "allele": "T", "end": 223, "endIntronDirection": "-", "endIntronOffset": 5067, "referenceAllele": "C", "start": 223, "startIntronDirection": "-", "startIntronOffset": 5068 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000675069.1:c.-133-5068C>T" ], "proteinEffect": { "hgvs": "ENSP00000502467.1:n.-133-5068C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774941" }, { "coordinates": [ { "allele": "T", "end": 939, "referenceAllele": "C", "start": 938 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000303660.8:c.802C>T" ], "proteinEffect": { "hgvs": "ENSP00000302501.4:p.Gln268Ter", "hgvsWellDefined": "ENSP00000302501.4:p.Gln268_Met1213delinsHisGlnMetLeuThrGlnGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255344" }, { "coordinates": [ { "allele": "T", "end": 1002, "referenceAllele": "C", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000392861.6:c.889C>T" ], "proteinEffect": { "hgvs": "ENSP00000376601.3:p.Gln297Ter", "hgvsWellDefined": "ENSP00000376601.3:p.Gln297_Leu467del" }, "referenceSequence": "http://reg.genome.network/refseq/RS275325" }, { "coordinates": [ { "allele": "T", "end": 1088, "referenceAllele": "C", "start": 1087 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000409487.7:c.805C>T" ], "proteinEffect": { "hgvs": "ENSP00000386854.2:p.Gln269Ter", "hgvsWellDefined": "ENSP00000386854.2:p.Gln269_Met1214delinsHisGlnMetLeuThrGlnGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281594" }, { "coordinates": [ { "allele": "T", "end": 777, "referenceAllele": "C", "start": 776 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000419938.5:c.544C>T" ], "proteinEffect": { "hgvs": "ENSP00000394777.2:p.Gln182Ter", "hgvsWellDefined": "ENSP00000394777.2:p.Gln182_Thr220delinsHisGlnMetLeuThrGlnGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS286101" }, { "coordinates": [ { "allele": "T", "end": 934, "referenceAllele": "C", "start": 933 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000427902.5:c.892C>T" ], "proteinEffect": { "hgvs": "ENSP00000395496.2:p.Gln298Ter", "hgvsWellDefined": "ENSP00000395496.2:p.Gln298Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS289932" }, { "coordinates": [ { "allele": "T", "end": 1327, "referenceAllele": "C", "start": 1326 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000440875.5:c.790C>T" ], "proteinEffect": { "hgvs": "ENSP00000475553.2:p.Gln264Ter", "hgvsWellDefined": "ENSP00000475553.2:p.Gln264_Ser423delinsHisGlnMetLeuThrGlnGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysAsnSerArgArgGlnTrpLeuMetProValIleProAlaLeuTrpGluAlaAsnGluGlyGlySerGlyGlnGluPheGluThrSerLeuAlaAsnMetValLysHisHisLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS296105" }, { "coordinates": [ { "allele": "T", "end": 983, "referenceAllele": "C", "start": 982 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000539609.7:c.733C>T" ], "proteinEffect": { "hgvs": "ENSP00000443792.2:p.Gln245Ter", "hgvsWellDefined": "ENSP00000443792.2:p.Gln245_Met1190delinsHisGlnMetLeuThrGlnGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS361949" }, { "coordinates": [ { "allele": "T", "end": 1006, "referenceAllele": "C", "start": 1005 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000558170.6:c.805C>T" ], "proteinEffect": { "hgvs": "ENSP00000454157.1:p.Gln269Ter", "hgvsWellDefined": "ENSP00000454157.1:p.Gln269_Met1214delinsHisGlnMetLeuThrGlnGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS373604" }, { "coordinates": [ { "allele": "T", "end": 1331, "referenceAllele": "C", "start": 1330 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "ENST00000627532.2:c.805C>T" ], "proteinEffect": { "hgvs": "ENSP00000487174.1:p.Gln269Ter", "hgvsWellDefined": "ENSP00000487174.1:p.Gln269_Met1214delinsHisGlnMetLeuThrGlnGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS406905" }, { "@id": "http://reg.genome.network/allele/PA2826086622", "coordinates": [ { "allele": "T", "end": 1255, "referenceAllele": "C", "start": 1254 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "NM_001171653.1:c.733C>T" ], "proteinEffect": { "hgvs": "NP_001165124.1:p.Gln245Ter", "hgvsWellDefined": "NP_001165124.1:p.Gln245_Met1190delinsHisGlnMetLeuThrGlnGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015347" }, { "@id": "http://reg.genome.network/allele/PA267218", "coordinates": [ { "allele": "T", "end": 1327, "referenceAllele": "C", "start": 1326 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "NM_014795.3:c.805C>T" ], "proteinEffect": { "hgvs": "NP_055610.1:p.Gln269Ter", "hgvsWellDefined": "NP_055610.1:p.Gln269_Met1214delinsHisGlnMetLeuThrGlnGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033472" }, { "coordinates": [ { "allele": "T", "end": 931, "referenceAllele": "C", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "XM_006712881.2:c.805C>T" ], "proteinEffect": { "hgvs": "XP_006712944.1:p.Gln269Ter", "hgvsWellDefined": "XP_006712944.1:p.Gln269_Met1214delinsHisGlnMetLeuThrGlnGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069897" }, { "coordinates": [ { "allele": "T", "end": 1013, "referenceAllele": "C", "start": 1012 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "XM_006712882.2:c.805C>T" ], "proteinEffect": { "hgvs": "XP_006712945.1:p.Gln269Ter", "hgvsWellDefined": "XP_006712945.1:p.Gln269_Met1214delinsHisGlnMetLeuThrGlnGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069898" }, { "coordinates": [ { "allele": "T", "end": 811, "referenceAllele": "C", "start": 810 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "XM_011512231.1:c.796C>T" ], "proteinEffect": { "hgvs": "XP_011510533.1:p.Gln266Ter", "hgvsWellDefined": "XP_011510533.1:p.Gln266_Met1211delinsHisGlnMetLeuThrGlnGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079489" }, { "coordinates": [ { "allele": "T", "end": 1187, "referenceAllele": "C", "start": 1186 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "XM_011512232.1:c.784C>T" ], "proteinEffect": { "hgvs": "XP_011510534.1:p.Gln262Ter", "hgvsWellDefined": "XP_011510534.1:p.Gln262_Met1207delinsHisGlnMetLeuThrGlnGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079490" }, { "@id": "http://reg.genome.network/allele/PA267218", "coordinates": [ { "allele": "T", "end": 1055, "referenceAllele": "C", "start": 1054 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "NM_014795.4:c.805C>T" ], "proteinEffect": { "hgvs": "NP_055610.1:p.Gln269Ter", "hgvsWellDefined": "NP_055610.1:p.Gln269_Met1214delinsHisGlnMetLeuThrGlnGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668501", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000627532.3:c.805C>T" }, "RefSeq": { "hgvs": "NM_014795.4:c.805C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000487174.1:p.Gln269Ter" }, "RefSeq": { "hgvs": "NP_055610.1:p.Gln269Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826086622", "coordinates": [ { "allele": "T", "end": 983, "referenceAllele": "C", "start": 982 } ], "gene": "http://reg.genome.network/gene/GN014881", "geneNCBI_id": 9839, "geneSymbol": "ZEB2", "hgvs": [ "NM_001171653.2:c.733C>T" ], "proteinEffect": { "hgvs": "NP_001165124.1:p.Gln245Ter", "hgvsWellDefined": "NP_001165124.1:p.Gln245_Met1190delinsHisGlnMetLeuThrGlnGlyAlaGlyAsnArgLysPheLysCysThrGluCysGlyLysAlaPheLysTyrLysHisHisLeuLysGluHisLeuArgIleHisSerGlyGluLysProTyrGluCysProAsnCysLysLysArgPheSerHisSerGlySerTyrSerSerHisIleSerSerLysLysCysIleGlyLeuIleSerValAsnGlyArgMetArgAsnAsnIleLysThrGlySerSerProAsnSerValSerSerSerProThrAsnSerAlaIleThrGlnLeuArgAsnLysLeuGluAsnGlyLysProLeuSerMetSerGluGlnThrGlyLeuLeuLysIleLysThrGluProLeuAspPheAsnAspTyrLysValLeuMetAlaThrHisGlyPheSerGlyThrSerProPheMetAsnGlyGlyLeuGlyAlaThrSerProLeuGlyValHisProSerAlaGlnSerProMetGlnHisLeuGlyValGlyMetGluAlaProLeuLeuGlyPheProThrMetAsnSerAsnLeuSerGluValGlnLysValLeuGlnIleValAspAsnThrValSerArgGlnLysMetAspCysLysAlaGluGluIleSerLysLeuLysGlyTyrHisMetLysAspProCysSerGlnProGluGluGlnGlyValThrSerProAsnIleProProValGlyLeuProValValSerHisAsnGlyAlaThrLysSerIleIleAspTyrThrLeuGluLysValAsnGluAlaLysAlaCysLeuGlnSerLeuThrThrAspSerArgArgGlnIleSerAsnIleLysLysGluLysLeuArgThrLeuIleAspLeuValThrAspAspLysMetIleGluAsnHisAsnIleSerThrProPheSerCysGlnPheCysLysGluSerPheProGlyProIleProLeuHisGlnHisGluArgTyrLeuCysLysMetAsnGluGluIleLysAlaValLeuGlnProHisGluAsnIleValProAsnLysAlaGlyValPheValAspAsnLysAlaLeuLeuLeuSerSerValLeuSerGluLysGlyMetThrSerProIleAsnProTyrLysAspHisMetSerValLeuLysAlaTyrTyrAlaMetAsnMetGluProAsnSerAspGluLeuLeuLysIleSerIleAlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsnSerAsnProProThrLysAspSerLeuLeuProArgSerProValLysProMetAspSerIleThrSerProSerIleAlaGluLeuHisAsnSerValThrAsnCysAspProProLeuArgLeuThrLysProSerHisPheThrAsnIleLysProValGluLysLeuAspHisSerArgSerAsnThrProSerProLeuAsnLeuSerSerThrSerSerLysAsnSerHisSerSerSerTyrThrProAsnSerPheSerSerGluGluLeuGlnAlaGluProLeuAspLeuSerLeuProLysGlnMetLysGluProLysSerIleIleAlaThrLysAsnLysThrLysAlaSerSerIleSerLeuAspHisAsnSerValSerSerSerSerGluAsnSerAspGluProLeuAsnLeuThrPheIleLysLysGluPheSerAsnSerAsnAsnLeuAspAsnLysSerThrAsnProValPheSerMetAsnProPheSerAlaLysProLeuTyrThrAlaLeuProProGlnSerAlaPheProProAlaThrPheMetProProValGlnThrSerIleProGlyLeuArgProTyrProGlyLeuAspGlnMetSerPheLeuProHisMetAlaTyrThrTyrProThrGlyAlaAlaThrPheAlaAspMetGlnGlnArgArgLysTyrGlnArgLysGlnGlyPheGlnGlyGluLeuLeuAspGlyAlaGlnAspTyrMetSerGlyLeuAspAspMetThrAspSerAspSerCysLeuSerArgLysLysIleLysLysThrGluSerGlyMetTyrAlaCysAspLeuCysAspLysThrPheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGlnCysGlnIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisSerArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgGluAlaAlaGluArgGluAlaArgGluLysGlyHisLeuGluProThrGluLeuLeuMetAsnArgAlaTyrLeuGlnSerIleThrProGlnGlyTyrSerAspSerGluGluArgGluSerMetProArgAspGlyGluSerGluLysGluHisGluLysGluGlyGluAspGlyTyrGlyLysLeuGlyArgGlnAspGlyAspGluGluPheGluGluGluGluGluGluSerGluAsnLysSerMetAspThrAspProGluThrIleArgAspGluGluGluThrGlyAspHisSerMetAspAspSerSerGluAspGlyLysMetGluThrLysSerAspHisGluGluAspAsnMetGluAspGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678702" } ], "type": "nucleotide" }