Canonical Allele Identifier: CA429441099

Gene: ZEB2

Linked Data

• ClinVar Variation Id: 701712
• ClinVar RCV Id: RCV000870346
• dbSNP Id: rs1573707668
• gnomAD v4: 2-144389607-T-C
• COSMIC: COSM3961255
• MyVariant Identifiers: chr2:g.145147174T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.144389607T>C , CM000664.2:g.144389607T>C	GRCh38
NC_000002.11:g.145147174T>C , CM000664.1:g.145147174T>C	GRCh37
NC_000002.10:g.144863644T>C	NCBI36
NG_016431.1:g.135785A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689298.1:c.*3338A>G	ENSP00000508434.1:n.*3338A>G
ENST00000440875.6:c.2712A>G	ENSP00000475553.3:p.Glu904=
ENST00000627532.3:c.3489A>G MANE Select	ENSP00000487174.1:p.Glu1163=
ENST00000636026.2:c.3377A>G	ENSP00000490776.1:p.Lys1126Arg
ENST00000636179.1:n.3458A>G
ENST00000636413.1:c.3153A>G	ENSP00000490508.1:p.Glu1051=
ENST00000636471.1:c.3564A>G	ENSP00000490317.1:p.Glu1188=
ENST00000636732.2:c.*3206A>G	ENSP00000490175.1:n.*3206A>G
ENST00000636820.1:n.3589A>G
ENST00000637045.1:c.3153A>G	ENSP00000490141.1:p.Glu1051=
ENST00000637304.1:c.3153A>G	ENSP00000490872.1:p.Glu1051=
ENST00000638007.1:c.3153A>G	ENSP00000490723.1:p.Glu1051=
ENST00000638087.1:c.3153A>G	ENSP00000490673.1:p.Glu1051=
ENST00000638128.1:c.2712A>G	ENSP00000490934.1:p.Glu904=
ENST00000639389.1:c.151+6805A>G	ENSP00000492572.1:n.151+6805A>G
ENST00000647488.1:c.709A>G	ENSP00000494820.1:n.709A>G
ENST00000675069.1:c.1020A>G	ENSP00000502467.1:p.Glu340=
ENST00000303660.8:c.3486A>G	ENSP00000302501.4:p.Glu1162=
ENST00000409487.7:c.3489A>G	ENSP00000386854.2:p.Glu1163=
ENST00000419938.5:c.656-725A>G	ENSP00000394777.2:n.656-725A>G
ENST00000539609.7:c.3417A>G	ENSP00000443792.2:p.Glu1139=
ENST00000558170.6:c.3489A>G	ENSP00000454157.1:p.Glu1163=
ENST00000627532.2:c.3489A>G	ENSP00000487174.1:p.Glu1163=
NM_001171653.1:c.3417A>G	NP_001165124.1:p.Glu1139=
NM_014795.3:c.3489A>G	NP_055610.1:p.Glu1163=
XM_006712881.2:c.3489A>G	XP_006712944.1:p.Glu1163=
XM_006712882.2:c.3489A>G	XP_006712945.1:p.Glu1163=
XM_011512231.1:c.3480A>G	XP_011510533.1:p.Glu1160=
XM_011512232.1:c.3468A>G	XP_011510534.1:p.Glu1156=
NM_014795.4:c.3489A>G MANE Select	NP_055610.1:p.Glu1163=
NM_001171653.2:c.3417A>G	NP_001165124.1:p.Glu1139=