Canonical Allele Identifier: CA275438

Gene: ZEB2

Linked Data

• ClinVar Variation Id: 198867
• ClinVar RCV Id: RCV000180325 ; RCV003483562
• dbSNP Id: rs794727924
• MyVariant Identifiers: chr2:g.145156053G>A (hg19) ; chr2:g.144398486G>A (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.144398486G>A , CM000664.2:g.144398486G>A	GRCh38
NC_000002.11:g.145156053G>A , CM000664.1:g.145156053G>A	GRCh37
NC_000002.10:g.144872523G>A	NCBI36
NG_016431.1:g.126906C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689298.1:c.*2550C>T	ENSP00000508434.1:n.*2550C>T
ENST00000440875.6:c.1924C>T	ENSP00000475553.3:p.Gln642Ter
ENST00000627532.3:c.2701C>T MANE Select	ENSP00000487174.1:p.Gln901Ter
ENST00000636026.2:c.2701C>T	ENSP00000490776.1:p.Gln901Ter
ENST00000636179.1:n.2670C>T
ENST00000636413.1:c.2365C>T	ENSP00000490508.1:p.Gln789Ter
ENST00000636471.1:c.2776C>T	ENSP00000490317.1:p.Gln926Ter
ENST00000636732.2:c.*2418C>T	ENSP00000490175.1:n.*2418C>T
ENST00000636820.1:n.2801C>T
ENST00000637045.1:c.2365C>T	ENSP00000490141.1:p.Gln789Ter
ENST00000637304.1:c.2365C>T	ENSP00000490872.1:p.Gln789Ter
ENST00000638007.1:c.2365C>T	ENSP00000490723.1:p.Gln789Ter
ENST00000638087.1:c.2365C>T	ENSP00000490673.1:p.Gln789Ter
ENST00000638128.1:c.1924C>T	ENSP00000490934.1:p.Gln642Ter
ENST00000675069.1:c.232C>T	ENSP00000502467.1:p.Gln78Ter
ENST00000303660.8:c.2698C>T	ENSP00000302501.4:p.Gln900Ter
ENST00000409487.7:c.2701C>T	ENSP00000386854.2:p.Gln901Ter
ENST00000419938.5:c.655+2713C>T	ENSP00000394777.2:n.655+2713C>T
ENST00000440875.5:c.1168-558C>T	ENSP00000475553.2:n.1168-558C>T
ENST00000539609.7:c.2629C>T	ENSP00000443792.2:p.Gln877Ter
ENST00000558170.6:c.2701C>T	ENSP00000454157.1:p.Gln901Ter
ENST00000627532.2:c.2701C>T	ENSP00000487174.1:p.Gln901Ter
NM_001171653.1:c.2629C>T	NP_001165124.1:p.Gln877Ter
NM_014795.3:c.2701C>T	NP_055610.1:p.Gln901Ter
XM_006712881.2:c.2701C>T	XP_006712944.1:p.Gln901Ter
XM_006712882.2:c.2701C>T	XP_006712945.1:p.Gln901Ter
XM_011512231.1:c.2692C>T	XP_011510533.1:p.Gln898Ter
XM_011512232.1:c.2680C>T	XP_011510534.1:p.Gln894Ter
NM_014795.4:c.2701C>T MANE Select	NP_055610.1:p.Gln901Ter
NM_001171653.2:c.2629C>T	NP_001165124.1:p.Gln877Ter