Canonical Allele Identifier: CA274512
Gene: ZEB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 189272
ClinVar RCV Id: RCV000169705
dbSNP Id: rs786204806
MyVariant Identifiers: chr2:g.145161587del (hg19) chr2:g.144404020del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.144404020del , CM000664.2:g.144404020del GRCh38
NC_000002.11:g.145161587del , CM000664.1:g.145161587del GRCh37
NC_000002.10:g.144878057del NCBI36
NG_016431.1:g.121372del

Transcript Alleles

HGVS Amino-acid change
ENST00000689298.1:c.*552del ENSP00000508434.1:n.*552del
ENST00000440875.6:c.-75del ENSP00000475553.3:n.-75del
ENST00000627532.3:c.703del MANE Select ENSP00000487174.1:p.Glu235ArgfsTer27
ENST00000636026.2:c.703del ENSP00000490776.1:p.Glu235ArgfsTer27
ENST00000636179.1:n.672del
ENST00000636413.1:c.367del ENSP00000490508.1:p.Glu123ArgfsTer27
ENST00000636471.1:c.703del ENSP00000490317.1:p.Glu235ArgfsTer27
ENST00000636732.2:c.*420del ENSP00000490175.1:n.*420del
ENST00000636820.1:n.803del
ENST00000637045.1:c.367del ENSP00000490141.1:p.Glu123ArgfsTer27
ENST00000637267.2:c.703del ENSP00000490293.2:p.Glu235ArgfsTer27
ENST00000637304.1:c.367del ENSP00000490872.1:p.Glu123ArgfsTer27
ENST00000638007.1:c.367del ENSP00000490723.1:p.Glu123ArgfsTer27
ENST00000638087.1:c.367del ENSP00000490673.1:p.Glu123ArgfsTer27
ENST00000638128.1:c.-75del ENSP00000490934.1:n.-75del
ENST00000675069.1:c.-133-5170del ENSP00000502467.1:n.-133-5170del
ENST00000303660.8:c.700del ENSP00000302501.4:p.Glu234ArgfsTer27
ENST00000392861.6:c.787del ENSP00000376601.3:p.Glu263ArgfsTer27
ENST00000409487.7:c.703del ENSP00000386854.2:p.Glu235ArgfsTer27
ENST00000419938.5:c.442del ENSP00000394777.2:p.Glu148ArgfsTer27
ENST00000427902.5:c.790del ENSP00000395496.2:p.Glu264ArgfsTer27
ENST00000440875.5:c.688del ENSP00000475553.2:p.Glu230ArgfsTer27
ENST00000497268.1:n.649del
ENST00000539609.7:c.631del ENSP00000443792.2:p.Glu211ArgfsTer27
ENST00000558170.6:c.703del ENSP00000454157.1:p.Glu235ArgfsTer27
ENST00000627532.2:c.703del ENSP00000487174.1:p.Glu235ArgfsTer27
NM_001171653.1:c.631del NP_001165124.1:p.Glu211ArgfsTer27
NM_014795.3:c.703del NP_055610.1:p.Glu235ArgfsTer27
XM_006712881.2:c.703del XP_006712944.1:p.Glu235ArgfsTer27
XM_006712882.2:c.703del XP_006712945.1:p.Glu235ArgfsTer27
XM_011512231.1:c.694del XP_011510533.1:p.Glu232ArgfsTer27
XM_011512232.1:c.682del XP_011510534.1:p.Glu228ArgfsTer27
NM_014795.4:c.703del MANE Select NP_055610.1:p.Glu235ArgfsTer27
NM_001171653.2:c.631del NP_001165124.1:p.Glu211ArgfsTer27
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