Canonical Allele Identifier: CA348714765

Gene: ZEB2

Linked Data

• ClinVar Variation Id: 1445094
• ClinVar RCV Id: RCV001958191
• dbSNP Id: rs2149879206
• COSMIC: COSM716493
• MyVariant Identifiers: chr2:g.145161578C>A (hg19) ; chr2:g.144404011C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.144404011C>A , CM000664.2:g.144404011C>A	GRCh38
NC_000002.11:g.145161578C>A , CM000664.1:g.145161578C>A	GRCh37
NC_000002.10:g.144878048C>A	NCBI36
NG_016431.1:g.121381G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689298.1:c.*561G>T	ENSP00000508434.1:n.*561G>T
ENST00000440875.6:c.-66G>T	ENSP00000475553.3:n.-66G>T
ENST00000627532.3:c.712G>T MANE Select	ENSP00000487174.1:p.Glu238Ter
ENST00000636026.2:c.712G>T	ENSP00000490776.1:p.Glu238Ter
ENST00000636179.1:n.681G>T
ENST00000636413.1:c.376G>T	ENSP00000490508.1:p.Glu126Ter
ENST00000636471.1:c.712G>T	ENSP00000490317.1:p.Glu238Ter
ENST00000636732.2:c.*429G>T	ENSP00000490175.1:n.*429G>T
ENST00000636820.1:n.812G>T
ENST00000637045.1:c.376G>T	ENSP00000490141.1:p.Glu126Ter
ENST00000637267.2:c.712G>T	ENSP00000490293.2:p.Glu238Ter
ENST00000637304.1:c.376G>T	ENSP00000490872.1:p.Glu126Ter
ENST00000638007.1:c.376G>T	ENSP00000490723.1:p.Glu126Ter
ENST00000638087.1:c.376G>T	ENSP00000490673.1:p.Glu126Ter
ENST00000638128.1:c.-66G>T	ENSP00000490934.1:n.-66G>T
ENST00000675069.1:c.-133-5161G>T	ENSP00000502467.1:n.-133-5161G>T
ENST00000303660.8:c.709G>T	ENSP00000302501.4:p.Glu237Ter
ENST00000392861.6:c.796G>T	ENSP00000376601.3:p.Glu266Ter
ENST00000409487.7:c.712G>T	ENSP00000386854.2:p.Glu238Ter
ENST00000419938.5:c.451G>T	ENSP00000394777.2:p.Glu151Ter
ENST00000427902.5:c.799G>T	ENSP00000395496.2:p.Glu267Ter
ENST00000440875.5:c.697G>T	ENSP00000475553.2:p.Glu233Ter
ENST00000497268.1:n.658G>T
ENST00000539609.7:c.640G>T	ENSP00000443792.2:p.Glu214Ter
ENST00000558170.6:c.712G>T	ENSP00000454157.1:p.Glu238Ter
ENST00000627532.2:c.712G>T	ENSP00000487174.1:p.Glu238Ter
NM_001171653.1:c.640G>T	NP_001165124.1:p.Glu214Ter
NM_014795.3:c.712G>T	NP_055610.1:p.Glu238Ter
XM_006712881.2:c.712G>T	XP_006712944.1:p.Glu238Ter
XM_006712882.2:c.712G>T	XP_006712945.1:p.Glu238Ter
XM_011512231.1:c.703G>T	XP_011510533.1:p.Glu235Ter
XM_011512232.1:c.691G>T	XP_011510534.1:p.Glu231Ter
NM_014795.4:c.712G>T MANE Select	NP_055610.1:p.Glu238Ter
NM_001171653.2:c.640G>T	NP_001165124.1:p.Glu214Ter