Canonical Allele Identifier: CA348707906

Gene: ZEB2

Linked Data

• gnomAD v4: 2-144398609-G-C
• MyVariant Identifiers: chr2:g.145156176G>C (hg19) ; chr2:g.144398609G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.144398609G>C , CM000664.2:g.144398609G>C	GRCh38
NC_000002.11:g.145156176G>C , CM000664.1:g.145156176G>C	GRCh37
NC_000002.10:g.144872646G>C	NCBI36
NG_016431.1:g.126783C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689298.1:c.*2427C>G	ENSP00000508434.1:n.*2427C>G
ENST00000440875.6:c.1801C>G	ENSP00000475553.3:p.Leu601Val
ENST00000627532.3:c.2578C>G MANE Select	ENSP00000487174.1:p.Leu860Val
ENST00000636026.2:c.2578C>G	ENSP00000490776.1:p.Leu860Val
ENST00000636179.1:n.2547C>G
ENST00000636413.1:c.2242C>G	ENSP00000490508.1:p.Leu748Val
ENST00000636471.1:c.2653C>G	ENSP00000490317.1:p.Leu885Val
ENST00000636732.2:c.*2295C>G	ENSP00000490175.1:n.*2295C>G
ENST00000636820.1:n.2678C>G
ENST00000637045.1:c.2242C>G	ENSP00000490141.1:p.Leu748Val
ENST00000637304.1:c.2242C>G	ENSP00000490872.1:p.Leu748Val
ENST00000638007.1:c.2242C>G	ENSP00000490723.1:p.Leu748Val
ENST00000638087.1:c.2242C>G	ENSP00000490673.1:p.Leu748Val
ENST00000638128.1:c.1801C>G	ENSP00000490934.1:p.Leu601Val
ENST00000675069.1:c.109C>G	ENSP00000502467.1:p.Leu37Val
ENST00000303660.8:c.2575C>G	ENSP00000302501.4:p.Leu859Val
ENST00000409487.7:c.2578C>G	ENSP00000386854.2:p.Leu860Val
ENST00000419938.5:c.655+2590C>G	ENSP00000394777.2:n.655+2590C>G
ENST00000440875.5:c.1168-681C>G	ENSP00000475553.2:n.1168-681C>G
ENST00000539609.7:c.2506C>G	ENSP00000443792.2:p.Leu836Val
ENST00000558170.6:c.2578C>G	ENSP00000454157.1:p.Leu860Val
ENST00000627532.2:c.2578C>G	ENSP00000487174.1:p.Leu860Val
NM_001171653.1:c.2506C>G	NP_001165124.1:p.Leu836Val
NM_014795.3:c.2578C>G	NP_055610.1:p.Leu860Val
XM_006712881.2:c.2578C>G	XP_006712944.1:p.Leu860Val
XM_006712882.2:c.2578C>G	XP_006712945.1:p.Leu860Val
XM_011512231.1:c.2569C>G	XP_011510533.1:p.Leu857Val
XM_011512232.1:c.2557C>G	XP_011510534.1:p.Leu853Val
NM_014795.4:c.2578C>G MANE Select	NP_055610.1:p.Leu860Val
NM_001171653.2:c.2506C>G	NP_001165124.1:p.Leu836Val