Canonical Allele Identifier: CA348712124

Gene: ZEB2

Linked Data

• dbSNP Id: rs1703286538
• gnomAD v4: 2-144399871-A-G
• MyVariant Identifiers: chr2:g.145157438A>G (hg19) ; chr2:g.144399871A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.144399871A>G , CM000664.2:g.144399871A>G	GRCh38
NC_000002.11:g.145157438A>G , CM000664.1:g.145157438A>G	GRCh37
NC_000002.10:g.144873908A>G	NCBI36
NG_016431.1:g.125521T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689298.1:c.*1165T>C	ENSP00000508434.1:n.*1165T>C
ENST00000440875.6:c.539T>C	ENSP00000475553.3:p.Leu180Ser
ENST00000627532.3:c.1316T>C MANE Select	ENSP00000487174.1:p.Leu439Ser
ENST00000636026.2:c.1316T>C	ENSP00000490776.1:p.Leu439Ser
ENST00000636179.1:n.1285T>C
ENST00000636413.1:c.980T>C	ENSP00000490508.1:p.Leu327Ser
ENST00000636471.1:c.1391T>C	ENSP00000490317.1:p.Leu464Ser
ENST00000636732.2:c.*1033T>C	ENSP00000490175.1:n.*1033T>C
ENST00000636820.1:n.1416T>C
ENST00000637045.1:c.980T>C	ENSP00000490141.1:p.Leu327Ser
ENST00000637267.2:c.1316T>C	ENSP00000490293.2:p.Leu439Ser
ENST00000637304.1:c.980T>C	ENSP00000490872.1:p.Leu327Ser
ENST00000638007.1:c.980T>C	ENSP00000490723.1:p.Leu327Ser
ENST00000638087.1:c.980T>C	ENSP00000490673.1:p.Leu327Ser
ENST00000638128.1:c.539T>C	ENSP00000490934.1:p.Leu180Ser
ENST00000675069.1:c.-133-1021T>C	ENSP00000502467.1:n.-133-1021T>C
ENST00000675145.1:n.1864T>C
ENST00000303660.8:c.1313T>C	ENSP00000302501.4:p.Leu438Ser
ENST00000392861.6:c.1400T>C	ENSP00000376601.3:p.Leu467Ser
ENST00000409487.7:c.1316T>C	ENSP00000386854.2:p.Leu439Ser
ENST00000419938.5:c.655+1328T>C	ENSP00000394777.2:n.655+1328T>C
ENST00000427902.5:c.1403T>C	ENSP00000395496.2:p.Leu468Ser
ENST00000440875.5:c.1153+148T>C	ENSP00000475553.2:n.1153+148T>C
ENST00000539609.7:c.1244T>C	ENSP00000443792.2:p.Leu415Ser
ENST00000558170.6:c.1316T>C	ENSP00000454157.1:p.Leu439Ser
ENST00000627532.2:c.1316T>C	ENSP00000487174.1:p.Leu439Ser
NM_001171653.1:c.1244T>C	NP_001165124.1:p.Leu415Ser
NM_014795.3:c.1316T>C	NP_055610.1:p.Leu439Ser
XM_006712881.2:c.1316T>C	XP_006712944.1:p.Leu439Ser
XM_006712882.2:c.1316T>C	XP_006712945.1:p.Leu439Ser
XM_011512231.1:c.1307T>C	XP_011510533.1:p.Leu436Ser
XM_011512232.1:c.1295T>C	XP_011510534.1:p.Leu432Ser
NM_014795.4:c.1316T>C MANE Select	NP_055610.1:p.Leu439Ser
NM_001171653.2:c.1244T>C	NP_001165124.1:p.Leu415Ser