Canonical Allele Identifier: CA429445127

Gene: ZEB2

Linked Data

• ClinVar Variation Id: 1081533
• ClinVar RCV Id: RCV001397538
• dbSNP Id: rs1703273972
• gnomAD v3: 2-144399243-G-A
• gnomAD v4: 2-144399243-G-A
• MyVariant Identifiers: chr2:g.145156810G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.144399243G>A , CM000664.2:g.144399243G>A	GRCh38
NC_000002.11:g.145156810G>A , CM000664.1:g.145156810G>A	GRCh37
NC_000002.10:g.144873280G>A	NCBI36
NG_016431.1:g.126149C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689298.1:c.*1793C>T	ENSP00000508434.1:n.*1793C>T
ENST00000440875.6:c.1167C>T	ENSP00000475553.3:p.Pro389=
ENST00000627532.3:c.1944C>T MANE Select	ENSP00000487174.1:p.Pro648=
ENST00000636026.2:c.1944C>T	ENSP00000490776.1:p.Pro648=
ENST00000636179.1:n.1913C>T
ENST00000636413.1:c.1608C>T	ENSP00000490508.1:p.Pro536=
ENST00000636471.1:c.2019C>T	ENSP00000490317.1:p.Pro673=
ENST00000636732.2:c.*1661C>T	ENSP00000490175.1:n.*1661C>T
ENST00000636820.1:n.2044C>T
ENST00000637045.1:c.1608C>T	ENSP00000490141.1:p.Pro536=
ENST00000637304.1:c.1608C>T	ENSP00000490872.1:p.Pro536=
ENST00000638007.1:c.1608C>T	ENSP00000490723.1:p.Pro536=
ENST00000638087.1:c.1608C>T	ENSP00000490673.1:p.Pro536=
ENST00000638128.1:c.1167C>T	ENSP00000490934.1:p.Pro389=
ENST00000675069.1:c.-133-393C>T	ENSP00000502467.1:n.-133-393C>T
ENST00000675145.1:n.2492C>T
ENST00000303660.8:c.1941C>T	ENSP00000302501.4:p.Pro647=
ENST00000409487.7:c.1944C>T	ENSP00000386854.2:p.Pro648=
ENST00000419938.5:c.655+1956C>T	ENSP00000394777.2:n.655+1956C>T
ENST00000427902.5:c.2031C>T	ENSP00000395496.2:p.Pro677=
ENST00000440875.5:c.1167+294C>T	ENSP00000475553.2:n.1167+294C>T
ENST00000539609.7:c.1872C>T	ENSP00000443792.2:p.Pro624=
ENST00000558170.6:c.1944C>T	ENSP00000454157.1:p.Pro648=
ENST00000627532.2:c.1944C>T	ENSP00000487174.1:p.Pro648=
NM_001171653.1:c.1872C>T	NP_001165124.1:p.Pro624=
NM_014795.3:c.1944C>T	NP_055610.1:p.Pro648=
XM_006712881.2:c.1944C>T	XP_006712944.1:p.Pro648=
XM_006712882.2:c.1944C>T	XP_006712945.1:p.Pro648=
XM_011512231.1:c.1935C>T	XP_011510533.1:p.Pro645=
XM_011512232.1:c.1923C>T	XP_011510534.1:p.Pro641=
NM_014795.4:c.1944C>T MANE Select	NP_055610.1:p.Pro648=
NM_001171653.2:c.1872C>T	NP_001165124.1:p.Pro624=