Canonical Allele Identifier: CA297637

Gene: ZEB2

Linked Data

• dbSNP Id: rs529220318
• ExAC: 2:145156205 G / A
• gnomAD v2: 2-145156205-G-A
• gnomAD v3: 2-144398638-G-A
• gnomAD v4: 2-144398638-G-A
• COSMIC: COSM4085286
• MyVariant Identifiers: chr2:g.145156205G>A (hg19) ; chr2:g.144398638G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.144398638G>A , CM000664.2:g.144398638G>A	GRCh38
NC_000002.11:g.145156205G>A , CM000664.1:g.145156205G>A	GRCh37
NC_000002.10:g.144872675G>A	NCBI36
NG_016431.1:g.126754C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000689298.1:c.*2398C>T	ENSP00000508434.1:n.*2398C>T
ENST00000440875.6:c.1772C>T	ENSP00000475553.3:p.Ser591Phe
ENST00000627532.3:c.2549C>T MANE Select	ENSP00000487174.1:p.Ser850Phe
ENST00000636026.2:c.2549C>T	ENSP00000490776.1:p.Ser850Phe
ENST00000636179.1:n.2518C>T
ENST00000636413.1:c.2213C>T	ENSP00000490508.1:p.Ser738Phe
ENST00000636471.1:c.2624C>T	ENSP00000490317.1:p.Ser875Phe
ENST00000636732.2:c.*2266C>T	ENSP00000490175.1:n.*2266C>T
ENST00000636820.1:n.2649C>T
ENST00000637045.1:c.2213C>T	ENSP00000490141.1:p.Ser738Phe
ENST00000637304.1:c.2213C>T	ENSP00000490872.1:p.Ser738Phe
ENST00000638007.1:c.2213C>T	ENSP00000490723.1:p.Ser738Phe
ENST00000638087.1:c.2213C>T	ENSP00000490673.1:p.Ser738Phe
ENST00000638128.1:c.1772C>T	ENSP00000490934.1:p.Ser591Phe
ENST00000675069.1:c.80C>T	ENSP00000502467.1:p.Ser27Phe
ENST00000303660.8:c.2546C>T	ENSP00000302501.4:p.Ser849Phe
ENST00000409487.7:c.2549C>T	ENSP00000386854.2:p.Ser850Phe
ENST00000419938.5:c.655+2561C>T	ENSP00000394777.2:n.655+2561C>T
ENST00000440875.5:c.1168-710C>T	ENSP00000475553.2:n.1168-710C>T
ENST00000539609.7:c.2477C>T	ENSP00000443792.2:p.Ser826Phe
ENST00000558170.6:c.2549C>T	ENSP00000454157.1:p.Ser850Phe
ENST00000627532.2:c.2549C>T	ENSP00000487174.1:p.Ser850Phe
NM_001171653.1:c.2477C>T	NP_001165124.1:p.Ser826Phe
NM_014795.3:c.2549C>T	NP_055610.1:p.Ser850Phe
XM_006712881.2:c.2549C>T	XP_006712944.1:p.Ser850Phe
XM_006712882.2:c.2549C>T	XP_006712945.1:p.Ser850Phe
XM_011512231.1:c.2540C>T	XP_011510533.1:p.Ser847Phe
XM_011512232.1:c.2528C>T	XP_011510534.1:p.Ser843Phe
NM_014795.4:c.2549C>T MANE Select	NP_055610.1:p.Ser850Phe
NM_001171653.2:c.2477C>T	NP_001165124.1:p.Ser826Phe