Canonical Allele Identifier: CA2580063870
Gene: ZEB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2135124
ClinVar RCV Id: RCV003066127

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.144399823del , CM000664.2:g.144399823del GRCh38
NC_000002.11:g.145157390del , CM000664.1:g.145157390del GRCh37
NC_000002.10:g.144873860del NCBI36
NG_016431.1:g.125569del

Transcript Alleles

HGVS Amino-acid Change
ENST00000689298.1:c.*1213del ENSP00000508434.1:n.*1213del
ENST00000440875.6:c.587del ENSP00000475553.3:p.Ser196IlefsTer3
ENST00000627532.3:c.1364del MANE Select ENSP00000487174.1:p.Ser455IlefsTer3
ENST00000636026.2:c.1364del ENSP00000490776.1:p.Ser455IlefsTer3
ENST00000636179.1:n.1333del
ENST00000636413.1:c.1028del ENSP00000490508.1:p.Ser343IlefsTer3
ENST00000636471.1:c.1439del ENSP00000490317.1:p.Ser480IlefsTer3
ENST00000636732.2:c.*1081del ENSP00000490175.1:n.*1081del
ENST00000636820.1:n.1464del
ENST00000637045.1:c.1028del ENSP00000490141.1:p.Ser343IlefsTer3
ENST00000637267.2:c.1364del ENSP00000490293.2:p.Ser455IlefsTer3
ENST00000637304.1:c.1028del ENSP00000490872.1:p.Ser343IlefsTer3
ENST00000638007.1:c.1028del ENSP00000490723.1:p.Ser343IlefsTer3
ENST00000638087.1:c.1028del ENSP00000490673.1:p.Ser343IlefsTer3
ENST00000638128.1:c.587del ENSP00000490934.1:p.Ser196IlefsTer3
ENST00000675069.1:c.-133-973del ENSP00000502467.1:n.-133-973del
ENST00000675145.1:n.1912del
ENST00000303660.8:c.1361del ENSP00000302501.4:p.Ser454IlefsTer3
ENST00000409487.7:c.1364del ENSP00000386854.2:p.Ser455IlefsTer3
ENST00000419938.5:c.655+1376del ENSP00000394777.2:n.655+1376del
ENST00000427902.5:c.1451del ENSP00000395496.2:p.Ser484IlefsTer3
ENST00000440875.5:c.1153+196del ENSP00000475553.2:n.1153+196del
ENST00000539609.7:c.1292del ENSP00000443792.2:p.Ser431IlefsTer3
ENST00000558170.6:c.1364del ENSP00000454157.1:p.Ser455IlefsTer3
ENST00000627532.2:c.1364del ENSP00000487174.1:p.Ser455IlefsTer3
NM_001171653.1:c.1292del NP_001165124.1:p.Ser431IlefsTer3
NM_014795.3:c.1364del NP_055610.1:p.Ser455IlefsTer3
XM_006712881.2:c.1364del XP_006712944.1:p.Ser455IlefsTer3
XM_006712882.2:c.1364del XP_006712945.1:p.Ser455IlefsTer3
XM_011512231.1:c.1355del XP_011510533.1:p.Ser452IlefsTer3
XM_011512232.1:c.1343del XP_011510534.1:p.Ser448IlefsTer3
NM_014795.4:c.1364del MANE Select NP_055610.1:p.Ser455IlefsTer3
NM_001171653.2:c.1292del NP_001165124.1:p.Ser431IlefsTer3