Canonical Allele Identifier: CA348712112

Gene: ZEB2

Linked Data

• ClinVar Variation Id: 2737900
• ClinVar RCV Id: RCV003502076
• MyVariant Identifiers: chr2:g.145157433C>A (hg19) ; chr2:g.144399866C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.144399866C>A , CM000664.2:g.144399866C>A	GRCh38
NC_000002.11:g.145157433C>A , CM000664.1:g.145157433C>A	GRCh37
NC_000002.10:g.144873903C>A	NCBI36
NG_016431.1:g.125526G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689298.1:c.*1170G>T	ENSP00000508434.1:n.*1170G>T
ENST00000440875.6:c.544G>T	ENSP00000475553.3:p.Val182Leu
ENST00000627532.3:c.1321G>T MANE Select	ENSP00000487174.1:p.Val441Leu
ENST00000636026.2:c.1321G>T	ENSP00000490776.1:p.Val441Leu
ENST00000636179.1:n.1290G>T
ENST00000636413.1:c.985G>T	ENSP00000490508.1:p.Val329Leu
ENST00000636471.1:c.1396G>T	ENSP00000490317.1:p.Val466Leu
ENST00000636732.2:c.*1038G>T	ENSP00000490175.1:n.*1038G>T
ENST00000636820.1:n.1421G>T
ENST00000637045.1:c.985G>T	ENSP00000490141.1:p.Val329Leu
ENST00000637267.2:c.1321G>T	ENSP00000490293.2:p.Val441Leu
ENST00000637304.1:c.985G>T	ENSP00000490872.1:p.Val329Leu
ENST00000638007.1:c.985G>T	ENSP00000490723.1:p.Val329Leu
ENST00000638087.1:c.985G>T	ENSP00000490673.1:p.Val329Leu
ENST00000638128.1:c.544G>T	ENSP00000490934.1:p.Val182Leu
ENST00000675069.1:c.-133-1016G>T	ENSP00000502467.1:n.-133-1016G>T
ENST00000675145.1:n.1869G>T
ENST00000303660.8:c.1318G>T	ENSP00000302501.4:p.Val440Leu
ENST00000409487.7:c.1321G>T	ENSP00000386854.2:p.Val441Leu
ENST00000419938.5:c.655+1333G>T	ENSP00000394777.2:n.655+1333G>T
ENST00000427902.5:c.1408G>T	ENSP00000395496.2:p.Val470Leu
ENST00000440875.5:c.1153+153G>T	ENSP00000475553.2:n.1153+153G>T
ENST00000539609.7:c.1249G>T	ENSP00000443792.2:p.Val417Leu
ENST00000558170.6:c.1321G>T	ENSP00000454157.1:p.Val441Leu
ENST00000627532.2:c.1321G>T	ENSP00000487174.1:p.Val441Leu
NM_001171653.1:c.1249G>T	NP_001165124.1:p.Val417Leu
NM_014795.3:c.1321G>T	NP_055610.1:p.Val441Leu
XM_006712881.2:c.1321G>T	XP_006712944.1:p.Val441Leu
XM_006712882.2:c.1321G>T	XP_006712945.1:p.Val441Leu
XM_011512231.1:c.1312G>T	XP_011510533.1:p.Val438Leu
XM_011512232.1:c.1300G>T	XP_011510534.1:p.Val434Leu
NM_014795.4:c.1321G>T MANE Select	NP_055610.1:p.Val441Leu
NM_001171653.2:c.1249G>T	NP_001165124.1:p.Val417Leu