Canonical Allele Identifier: CA348712069

Gene: ZEB2

Linked Data

• ClinVar Variation Id: 2770843
• ClinVar RCV Id: RCV003503990
• MyVariant Identifiers: chr2:g.145157413T>A (hg19) ; chr2:g.144399846T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.144399846T>A , CM000664.2:g.144399846T>A	GRCh38
NC_000002.11:g.145157413T>A , CM000664.1:g.145157413T>A	GRCh37
NC_000002.10:g.144873883T>A	NCBI36
NG_016431.1:g.125546A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689298.1:c.*1190A>T	ENSP00000508434.1:n.*1190A>T
ENST00000440875.6:c.564A>T	ENSP00000475553.3:p.Leu188Phe
ENST00000627532.3:c.1341A>T MANE Select	ENSP00000487174.1:p.Leu447Phe
ENST00000636026.2:c.1341A>T	ENSP00000490776.1:p.Leu447Phe
ENST00000636179.1:n.1310A>T
ENST00000636413.1:c.1005A>T	ENSP00000490508.1:p.Leu335Phe
ENST00000636471.1:c.1416A>T	ENSP00000490317.1:p.Leu472Phe
ENST00000636732.2:c.*1058A>T	ENSP00000490175.1:n.*1058A>T
ENST00000636820.1:n.1441A>T
ENST00000637045.1:c.1005A>T	ENSP00000490141.1:p.Leu335Phe
ENST00000637267.2:c.1341A>T	ENSP00000490293.2:p.Leu447Phe
ENST00000637304.1:c.1005A>T	ENSP00000490872.1:p.Leu335Phe
ENST00000638007.1:c.1005A>T	ENSP00000490723.1:p.Leu335Phe
ENST00000638087.1:c.1005A>T	ENSP00000490673.1:p.Leu335Phe
ENST00000638128.1:c.564A>T	ENSP00000490934.1:p.Leu188Phe
ENST00000675069.1:c.-133-996A>T	ENSP00000502467.1:n.-133-996A>T
ENST00000675145.1:n.1889A>T
ENST00000303660.8:c.1338A>T	ENSP00000302501.4:p.Leu446Phe
ENST00000409487.7:c.1341A>T	ENSP00000386854.2:p.Leu447Phe
ENST00000419938.5:c.655+1353A>T	ENSP00000394777.2:n.655+1353A>T
ENST00000427902.5:c.1428A>T	ENSP00000395496.2:p.Leu476Phe
ENST00000440875.5:c.1153+173A>T	ENSP00000475553.2:n.1153+173A>T
ENST00000539609.7:c.1269A>T	ENSP00000443792.2:p.Leu423Phe
ENST00000558170.6:c.1341A>T	ENSP00000454157.1:p.Leu447Phe
ENST00000627532.2:c.1341A>T	ENSP00000487174.1:p.Leu447Phe
NM_001171653.1:c.1269A>T	NP_001165124.1:p.Leu423Phe
NM_014795.3:c.1341A>T	NP_055610.1:p.Leu447Phe
XM_006712881.2:c.1341A>T	XP_006712944.1:p.Leu447Phe
XM_006712882.2:c.1341A>T	XP_006712945.1:p.Leu447Phe
XM_011512231.1:c.1332A>T	XP_011510533.1:p.Leu444Phe
XM_011512232.1:c.1320A>T	XP_011510534.1:p.Leu440Phe
NM_014795.4:c.1341A>T MANE Select	NP_055610.1:p.Leu447Phe
NM_001171653.2:c.1269A>T	NP_001165124.1:p.Leu423Phe