Canonical Allele Identifier: CA348708289

Gene: ZEB2

Linked Data

• gnomAD v4: 2-144398751-C-G
• COSMIC: COSM324390
• MyVariant Identifiers: chr2:g.145156318C>G (hg19) ; chr2:g.144398751C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.144398751C>G , CM000664.2:g.144398751C>G	GRCh38
NC_000002.11:g.145156318C>G , CM000664.1:g.145156318C>G	GRCh37
NC_000002.10:g.144872788C>G	NCBI36
NG_016431.1:g.126641G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689298.1:c.*2285G>C	ENSP00000508434.1:n.*2285G>C
ENST00000440875.6:c.1659G>C	ENSP00000475553.3:p.Gln553His
ENST00000627532.3:c.2436G>C MANE Select	ENSP00000487174.1:p.Gln812His
ENST00000636026.2:c.2436G>C	ENSP00000490776.1:p.Gln812His
ENST00000636179.1:n.2405G>C
ENST00000636413.1:c.2100G>C	ENSP00000490508.1:p.Gln700His
ENST00000636471.1:c.2511G>C	ENSP00000490317.1:p.Gln837His
ENST00000636732.2:c.*2153G>C	ENSP00000490175.1:n.*2153G>C
ENST00000636820.1:n.2536G>C
ENST00000637045.1:c.2100G>C	ENSP00000490141.1:p.Gln700His
ENST00000637304.1:c.2100G>C	ENSP00000490872.1:p.Gln700His
ENST00000638007.1:c.2100G>C	ENSP00000490723.1:p.Gln700His
ENST00000638087.1:c.2100G>C	ENSP00000490673.1:p.Gln700His
ENST00000638128.1:c.1659G>C	ENSP00000490934.1:p.Gln553His
ENST00000675069.1:c.-34G>C	ENSP00000502467.1:n.-34G>C
ENST00000675145.1:n.2984G>C
ENST00000303660.8:c.2433G>C	ENSP00000302501.4:p.Gln811His
ENST00000409487.7:c.2436G>C	ENSP00000386854.2:p.Gln812His
ENST00000419938.5:c.655+2448G>C	ENSP00000394777.2:n.655+2448G>C
ENST00000440875.5:c.1167+786G>C	ENSP00000475553.2:n.1167+786G>C
ENST00000539609.7:c.2364G>C	ENSP00000443792.2:p.Gln788His
ENST00000558170.6:c.2436G>C	ENSP00000454157.1:p.Gln812His
ENST00000627532.2:c.2436G>C	ENSP00000487174.1:p.Gln812His
NM_001171653.1:c.2364G>C	NP_001165124.1:p.Gln788His
NM_014795.3:c.2436G>C	NP_055610.1:p.Gln812His
XM_006712881.2:c.2436G>C	XP_006712944.1:p.Gln812His
XM_006712882.2:c.2436G>C	XP_006712945.1:p.Gln812His
XM_011512231.1:c.2427G>C	XP_011510533.1:p.Gln809His
XM_011512232.1:c.2415G>C	XP_011510534.1:p.Gln805His
NM_014795.4:c.2436G>C MANE Select	NP_055610.1:p.Gln812His
NM_001171653.2:c.2364G>C	NP_001165124.1:p.Gln788His