Canonical Allele Identifier: CA2697551033
Gene: ZEB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2770851
ClinVar RCV Id: RCV003503991

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.144399845del , CM000664.2:g.144399845del GRCh38
NC_000002.11:g.145157412del , CM000664.1:g.145157412del GRCh37
NC_000002.10:g.144873882del NCBI36
NG_016431.1:g.125547del

Transcript Alleles

HGVS Amino-acid Change
ENST00000689298.1:c.*1191del ENSP00000508434.1:n.*1191del
ENST00000440875.6:c.565del ENSP00000475553.3:p.Thr193ProfsTer2
ENST00000627532.3:c.1342del MANE Select ENSP00000487174.1:p.Thr452ProfsTer2
ENST00000636026.2:c.1342del ENSP00000490776.1:p.Thr452ProfsTer2
ENST00000636179.1:n.1311del
ENST00000636413.1:c.1006del ENSP00000490508.1:p.Thr340ProfsTer2
ENST00000636471.1:c.1417del ENSP00000490317.1:p.Thr477ProfsTer2
ENST00000636732.2:c.*1059del ENSP00000490175.1:n.*1059del
ENST00000636820.1:n.1442del
ENST00000637045.1:c.1006del ENSP00000490141.1:p.Thr340ProfsTer2
ENST00000637267.2:c.1342del ENSP00000490293.2:p.Thr452ProfsTer2
ENST00000637304.1:c.1006del ENSP00000490872.1:p.Thr340ProfsTer2
ENST00000638007.1:c.1006del ENSP00000490723.1:p.Thr340ProfsTer2
ENST00000638087.1:c.1006del ENSP00000490673.1:p.Thr340ProfsTer2
ENST00000638128.1:c.565del ENSP00000490934.1:p.Thr193ProfsTer2
ENST00000675069.1:c.-133-995del ENSP00000502467.1:n.-133-995del
ENST00000675145.1:n.1890del
ENST00000303660.8:c.1339del ENSP00000302501.4:p.Thr451ProfsTer2
ENST00000409487.7:c.1342del ENSP00000386854.2:p.Thr452ProfsTer2
ENST00000419938.5:c.655+1354del ENSP00000394777.2:n.655+1354del
ENST00000427902.5:c.1429del ENSP00000395496.2:p.Thr481ProfsTer2
ENST00000440875.5:c.1153+174del ENSP00000475553.2:n.1153+174del
ENST00000539609.7:c.1270del ENSP00000443792.2:p.Thr428ProfsTer2
ENST00000558170.6:c.1342del ENSP00000454157.1:p.Thr452ProfsTer2
ENST00000627532.2:c.1342del ENSP00000487174.1:p.Thr452ProfsTer2
NM_001171653.1:c.1270del NP_001165124.1:p.Thr428ProfsTer2
NM_014795.3:c.1342del NP_055610.1:p.Thr452ProfsTer2
XM_006712881.2:c.1342del XP_006712944.1:p.Thr452ProfsTer2
XM_006712882.2:c.1342del XP_006712945.1:p.Thr452ProfsTer2
XM_011512231.1:c.1333del XP_011510533.1:p.Thr449ProfsTer2
XM_011512232.1:c.1321del XP_011510534.1:p.Thr445ProfsTer2
NM_014795.4:c.1342del MANE Select NP_055610.1:p.Thr452ProfsTer2
NM_001171653.2:c.1270del NP_001165124.1:p.Thr428ProfsTer2