Canonical Allele Identifier: CA348709935

Gene: ZEB2

Linked Data

• gnomAD v4: 2-144399322-G-A
• MyVariant Identifiers: chr2:g.145156889G>A (hg19) ; chr2:g.144399322G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.144399322G>A , CM000664.2:g.144399322G>A	GRCh38
NC_000002.11:g.145156889G>A , CM000664.1:g.145156889G>A	GRCh37
NC_000002.10:g.144873359G>A	NCBI36
NG_016431.1:g.126070C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689298.1:c.*1714C>T	ENSP00000508434.1:n.*1714C>T
ENST00000440875.6:c.1088C>T	ENSP00000475553.3:p.Pro363Leu
ENST00000627532.3:c.1865C>T MANE Select	ENSP00000487174.1:p.Pro622Leu
ENST00000636026.2:c.1865C>T	ENSP00000490776.1:p.Pro622Leu
ENST00000636179.1:n.1834C>T
ENST00000636413.1:c.1529C>T	ENSP00000490508.1:p.Pro510Leu
ENST00000636471.1:c.1940C>T	ENSP00000490317.1:p.Pro647Leu
ENST00000636732.2:c.*1582C>T	ENSP00000490175.1:n.*1582C>T
ENST00000636820.1:n.1965C>T
ENST00000637045.1:c.1529C>T	ENSP00000490141.1:p.Pro510Leu
ENST00000637304.1:c.1529C>T	ENSP00000490872.1:p.Pro510Leu
ENST00000638007.1:c.1529C>T	ENSP00000490723.1:p.Pro510Leu
ENST00000638087.1:c.1529C>T	ENSP00000490673.1:p.Pro510Leu
ENST00000638128.1:c.1088C>T	ENSP00000490934.1:p.Pro363Leu
ENST00000675069.1:c.-133-472C>T	ENSP00000502467.1:n.-133-472C>T
ENST00000675145.1:n.2413C>T
ENST00000303660.8:c.1862C>T	ENSP00000302501.4:p.Pro621Leu
ENST00000409487.7:c.1865C>T	ENSP00000386854.2:p.Pro622Leu
ENST00000419938.5:c.655+1877C>T	ENSP00000394777.2:n.655+1877C>T
ENST00000427902.5:c.1952C>T	ENSP00000395496.2:p.Pro651Leu
ENST00000440875.5:c.1167+215C>T	ENSP00000475553.2:n.1167+215C>T
ENST00000539609.7:c.1793C>T	ENSP00000443792.2:p.Pro598Leu
ENST00000558170.6:c.1865C>T	ENSP00000454157.1:p.Pro622Leu
ENST00000627532.2:c.1865C>T	ENSP00000487174.1:p.Pro622Leu
NM_001171653.1:c.1793C>T	NP_001165124.1:p.Pro598Leu
NM_014795.3:c.1865C>T	NP_055610.1:p.Pro622Leu
XM_006712881.2:c.1865C>T	XP_006712944.1:p.Pro622Leu
XM_006712882.2:c.1865C>T	XP_006712945.1:p.Pro622Leu
XM_011512231.1:c.1856C>T	XP_011510533.1:p.Pro619Leu
XM_011512232.1:c.1844C>T	XP_011510534.1:p.Pro615Leu
NM_014795.4:c.1865C>T MANE Select	NP_055610.1:p.Pro622Leu
NM_001171653.2:c.1793C>T	NP_001165124.1:p.Pro598Leu