Canonical Allele Identifier: CA348714900

Gene: ZEB2

Linked Data

• ClinVar Variation Id: 1708734
• ClinVar RCV Id: RCV002288018
• gnomAD v4: 2-144404071-G-A
• MyVariant Identifiers: chr2:g.145161638G>A (hg19) ; chr2:g.144404071G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.144404071G>A , CM000664.2:g.144404071G>A	GRCh38
NC_000002.11:g.145161638G>A , CM000664.1:g.145161638G>A	GRCh37
NC_000002.10:g.144878108G>A	NCBI36
NG_016431.1:g.121321C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000689298.1:c.*501C>T	ENSP00000508434.1:n.*501C>T
ENST00000440875.6:c.-126C>T	ENSP00000475553.3:n.-126C>T
ENST00000627532.3:c.652C>T MANE Select	ENSP00000487174.1:p.Arg218Trp
ENST00000636026.2:c.652C>T	ENSP00000490776.1:p.Arg218Trp
ENST00000636179.1:n.621C>T
ENST00000636413.1:c.316C>T	ENSP00000490508.1:p.Arg106Trp
ENST00000636471.1:c.652C>T	ENSP00000490317.1:p.Arg218Trp
ENST00000636732.2:c.*369C>T	ENSP00000490175.1:n.*369C>T
ENST00000636820.1:n.752C>T
ENST00000637045.1:c.316C>T	ENSP00000490141.1:p.Arg106Trp
ENST00000637267.2:c.652C>T	ENSP00000490293.2:p.Arg218Trp
ENST00000637304.1:c.316C>T	ENSP00000490872.1:p.Arg106Trp
ENST00000638007.1:c.316C>T	ENSP00000490723.1:p.Arg106Trp
ENST00000638087.1:c.316C>T	ENSP00000490673.1:p.Arg106Trp
ENST00000638128.1:c.-126C>T	ENSP00000490934.1:n.-126C>T
ENST00000675069.1:c.-133-5221C>T	ENSP00000502467.1:n.-133-5221C>T
ENST00000303660.8:c.649C>T	ENSP00000302501.4:p.Arg217Trp
ENST00000392861.6:c.736C>T	ENSP00000376601.3:p.Arg246Trp
ENST00000409487.7:c.652C>T	ENSP00000386854.2:p.Arg218Trp
ENST00000419938.5:c.391C>T	ENSP00000394777.2:p.Arg131Trp
ENST00000427902.5:c.739C>T	ENSP00000395496.2:p.Arg247Trp
ENST00000440875.5:c.637C>T	ENSP00000475553.2:p.Arg213Trp
ENST00000497268.1:n.598C>T
ENST00000539609.7:c.580C>T	ENSP00000443792.2:p.Arg194Trp
ENST00000558170.6:c.652C>T	ENSP00000454157.1:p.Arg218Trp
ENST00000627532.2:c.652C>T	ENSP00000487174.1:p.Arg218Trp
NM_001171653.1:c.580C>T	NP_001165124.1:p.Arg194Trp
NM_014795.3:c.652C>T	NP_055610.1:p.Arg218Trp
XM_006712881.2:c.652C>T	XP_006712944.1:p.Arg218Trp
XM_006712882.2:c.652C>T	XP_006712945.1:p.Arg218Trp
XM_011512231.1:c.643C>T	XP_011510533.1:p.Arg215Trp
XM_011512232.1:c.631C>T	XP_011510534.1:p.Arg211Trp
NM_014795.4:c.652C>T MANE Select	NP_055610.1:p.Arg218Trp
NM_001171653.2:c.580C>T	NP_001165124.1:p.Arg194Trp