Canonical Allele Identifier: CA348714691

Gene: ZEB2

Linked Data

• ClinVar Variation Id: 2713662
• ClinVar RCV Id: RCV003503824
• gnomAD v4: 2-144403980-T-C
• MyVariant Identifiers: chr2:g.145161547T>C (hg19) ; chr2:g.144403980T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.144403980T>C , CM000664.2:g.144403980T>C	GRCh38
NC_000002.11:g.145161547T>C , CM000664.1:g.145161547T>C	GRCh37
NC_000002.10:g.144878017T>C	NCBI36
NG_016431.1:g.121412A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000689298.1:c.*592A>G	ENSP00000508434.1:n.*592A>G
ENST00000440875.6:c.-35A>G	ENSP00000475553.3:n.-35A>G
ENST00000627532.3:c.743A>G MANE Select	ENSP00000487174.1:p.Tyr248Cys
ENST00000636026.2:c.743A>G	ENSP00000490776.1:p.Tyr248Cys
ENST00000636179.1:n.712A>G
ENST00000636413.1:c.407A>G	ENSP00000490508.1:p.Tyr136Cys
ENST00000636471.1:c.743A>G	ENSP00000490317.1:p.Tyr248Cys
ENST00000636732.2:c.*460A>G	ENSP00000490175.1:n.*460A>G
ENST00000636820.1:n.843A>G
ENST00000637045.1:c.407A>G	ENSP00000490141.1:p.Tyr136Cys
ENST00000637267.2:c.743A>G	ENSP00000490293.2:p.Tyr248Cys
ENST00000637304.1:c.407A>G	ENSP00000490872.1:p.Tyr136Cys
ENST00000638007.1:c.407A>G	ENSP00000490723.1:p.Tyr136Cys
ENST00000638087.1:c.407A>G	ENSP00000490673.1:p.Tyr136Cys
ENST00000638128.1:c.-35A>G	ENSP00000490934.1:n.-35A>G
ENST00000675069.1:c.-133-5130A>G	ENSP00000502467.1:n.-133-5130A>G
ENST00000303660.8:c.740A>G	ENSP00000302501.4:p.Tyr247Cys
ENST00000392861.6:c.827A>G	ENSP00000376601.3:p.Tyr276Cys
ENST00000409487.7:c.743A>G	ENSP00000386854.2:p.Tyr248Cys
ENST00000419938.5:c.482A>G	ENSP00000394777.2:p.Tyr161Cys
ENST00000427902.5:c.830A>G	ENSP00000395496.2:p.Tyr277Cys
ENST00000440875.5:c.728A>G	ENSP00000475553.2:p.Tyr243Cys
ENST00000539609.7:c.671A>G	ENSP00000443792.2:p.Tyr224Cys
ENST00000558170.6:c.743A>G	ENSP00000454157.1:p.Tyr248Cys
ENST00000627532.2:c.743A>G	ENSP00000487174.1:p.Tyr248Cys
NM_001171653.1:c.671A>G	NP_001165124.1:p.Tyr224Cys
NM_014795.3:c.743A>G	NP_055610.1:p.Tyr248Cys
XM_006712881.2:c.743A>G	XP_006712944.1:p.Tyr248Cys
XM_006712882.2:c.743A>G	XP_006712945.1:p.Tyr248Cys
XM_011512231.1:c.734A>G	XP_011510533.1:p.Tyr245Cys
XM_011512232.1:c.722A>G	XP_011510534.1:p.Tyr241Cys
NM_014795.4:c.743A>G MANE Select	NP_055610.1:p.Tyr248Cys
NM_001171653.2:c.671A>G	NP_001165124.1:p.Tyr224Cys