Canonical Allele Identifier: CA348711867

Gene: ZEB2

Linked Data

• ClinVar Variation Id: 2018944
• ClinVar RCV Id: RCV002870941
• MyVariant Identifiers: chr2:g.145157325C>G (hg19) ; chr2:g.144399758C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.144399758C>G , CM000664.2:g.144399758C>G	GRCh38
NC_000002.11:g.145157325C>G , CM000664.1:g.145157325C>G	GRCh37
NC_000002.10:g.144873795C>G	NCBI36
NG_016431.1:g.125634G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689298.1:c.*1278G>C	ENSP00000508434.1:n.*1278G>C
ENST00000440875.6:c.652G>C	ENSP00000475553.3:p.Asp218His
ENST00000627532.3:c.1429G>C MANE Select	ENSP00000487174.1:p.Asp477His
ENST00000636026.2:c.1429G>C	ENSP00000490776.1:p.Asp477His
ENST00000636179.1:n.1398G>C
ENST00000636413.1:c.1093G>C	ENSP00000490508.1:p.Asp365His
ENST00000636471.1:c.1504G>C	ENSP00000490317.1:p.Asp502His
ENST00000636732.2:c.*1146G>C	ENSP00000490175.1:n.*1146G>C
ENST00000636820.1:n.1529G>C
ENST00000637045.1:c.1093G>C	ENSP00000490141.1:p.Asp365His
ENST00000637267.2:c.1429G>C	ENSP00000490293.2:p.Asp477His
ENST00000637304.1:c.1093G>C	ENSP00000490872.1:p.Asp365His
ENST00000638007.1:c.1093G>C	ENSP00000490723.1:p.Asp365His
ENST00000638087.1:c.1093G>C	ENSP00000490673.1:p.Asp365His
ENST00000638128.1:c.652G>C	ENSP00000490934.1:p.Asp218His
ENST00000675069.1:c.-133-908G>C	ENSP00000502467.1:n.-133-908G>C
ENST00000675145.1:n.1977G>C
ENST00000303660.8:c.1426G>C	ENSP00000302501.4:p.Asp476His
ENST00000409487.7:c.1429G>C	ENSP00000386854.2:p.Asp477His
ENST00000419938.5:c.655+1441G>C	ENSP00000394777.2:n.655+1441G>C
ENST00000427902.5:c.1516G>C	ENSP00000395496.2:p.Asp506His
ENST00000440875.5:c.1154-208G>C	ENSP00000475553.2:n.1154-208G>C
ENST00000539609.7:c.1357G>C	ENSP00000443792.2:p.Asp453His
ENST00000558170.6:c.1429G>C	ENSP00000454157.1:p.Asp477His
ENST00000627532.2:c.1429G>C	ENSP00000487174.1:p.Asp477His
NM_001171653.1:c.1357G>C	NP_001165124.1:p.Asp453His
NM_014795.3:c.1429G>C	NP_055610.1:p.Asp477His
XM_006712881.2:c.1429G>C	XP_006712944.1:p.Asp477His
XM_006712882.2:c.1429G>C	XP_006712945.1:p.Asp477His
XM_011512231.1:c.1420G>C	XP_011510533.1:p.Asp474His
XM_011512232.1:c.1408G>C	XP_011510534.1:p.Asp470His
NM_014795.4:c.1429G>C MANE Select	NP_055610.1:p.Asp477His
NM_001171653.2:c.1357G>C	NP_001165124.1:p.Asp453His