Canonical Allele Identifier: CA348706668

Gene: ZEB2

Linked Data

• ClinVar Variation Id: 1032636
• ClinVar RCV Id: RCV001334787
• dbSNP Id: rs1560605826
• gnomAD v4: 2-144398347-G-C
• MyVariant Identifiers: chr2:g.145155914G>C (hg19) ; chr2:g.144398347G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.144398347G>C , CM000664.2:g.144398347G>C	GRCh38
NC_000002.11:g.145155914G>C , CM000664.1:g.145155914G>C	GRCh37
NC_000002.10:g.144872384G>C	NCBI36
NG_016431.1:g.127045C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689298.1:c.*2689C>G	ENSP00000508434.1:n.*2689C>G
ENST00000440875.6:c.2063C>G	ENSP00000475553.3:p.Ala688Gly
ENST00000627532.3:c.2840C>G MANE Select	ENSP00000487174.1:p.Ala947Gly
ENST00000636026.2:c.2840C>G	ENSP00000490776.1:p.Ala947Gly
ENST00000636179.1:n.2809C>G
ENST00000636413.1:c.2504C>G	ENSP00000490508.1:p.Ala835Gly
ENST00000636471.1:c.2915C>G	ENSP00000490317.1:p.Ala972Gly
ENST00000636732.2:c.*2557C>G	ENSP00000490175.1:n.*2557C>G
ENST00000636820.1:n.2940C>G
ENST00000637045.1:c.2504C>G	ENSP00000490141.1:p.Ala835Gly
ENST00000637304.1:c.2504C>G	ENSP00000490872.1:p.Ala835Gly
ENST00000638007.1:c.2504C>G	ENSP00000490723.1:p.Ala835Gly
ENST00000638087.1:c.2504C>G	ENSP00000490673.1:p.Ala835Gly
ENST00000638128.1:c.2063C>G	ENSP00000490934.1:p.Ala688Gly
ENST00000675069.1:c.371C>G	ENSP00000502467.1:p.Ala124Gly
ENST00000303660.8:c.2837C>G	ENSP00000302501.4:p.Ala946Gly
ENST00000409487.7:c.2840C>G	ENSP00000386854.2:p.Ala947Gly
ENST00000419938.5:c.655+2852C>G	ENSP00000394777.2:n.655+2852C>G
ENST00000440875.5:c.1168-419C>G	ENSP00000475553.2:n.1168-419C>G
ENST00000539609.7:c.2768C>G	ENSP00000443792.2:p.Ala923Gly
ENST00000558170.6:c.2840C>G	ENSP00000454157.1:p.Ala947Gly
ENST00000627532.2:c.2840C>G	ENSP00000487174.1:p.Ala947Gly
NM_001171653.1:c.2768C>G	NP_001165124.1:p.Ala923Gly
NM_014795.3:c.2840C>G	NP_055610.1:p.Ala947Gly
XM_006712881.2:c.2840C>G	XP_006712944.1:p.Ala947Gly
XM_006712882.2:c.2840C>G	XP_006712945.1:p.Ala947Gly
XM_011512231.1:c.2831C>G	XP_011510533.1:p.Ala944Gly
XM_011512232.1:c.2819C>G	XP_011510534.1:p.Ala940Gly
NM_014795.4:c.2840C>G MANE Select	NP_055610.1:p.Ala947Gly
NM_001171653.2:c.2768C>G	NP_001165124.1:p.Ala923Gly