Canonical Allele Identifier: CA1898352

Gene: ZEB2

Linked Data

• ClinVar Variation Id: 388030
• ClinVar RCV Id: RCV000435129 ; RCV000818602
• dbSNP Id: rs753804606
• ExAC: 2:145157466 G / A
• gnomAD v2: 2-145157466-G-A
• gnomAD v4: 2-144399899-G-A
• MyVariant Identifiers: chr2:g.145157466G>A (hg19) ; chr2:g.144399899G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.144399899G>A , CM000664.2:g.144399899G>A	GRCh38
NC_000002.11:g.145157466G>A , CM000664.1:g.145157466G>A	GRCh37
NC_000002.10:g.144873936G>A	NCBI36
NG_016431.1:g.125493C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689298.1:c.*1137C>T	ENSP00000508434.1:n.*1137C>T
ENST00000440875.6:c.511C>T	ENSP00000475553.3:p.Pro171Ser
ENST00000627532.3:c.1288C>T MANE Select	ENSP00000487174.1:p.Pro430Ser
ENST00000636026.2:c.1288C>T	ENSP00000490776.1:p.Pro430Ser
ENST00000636179.1:n.1257C>T
ENST00000636413.1:c.952C>T	ENSP00000490508.1:p.Pro318Ser
ENST00000636471.1:c.1363C>T	ENSP00000490317.1:p.Pro455Ser
ENST00000636732.2:c.*1005C>T	ENSP00000490175.1:n.*1005C>T
ENST00000636820.1:n.1388C>T
ENST00000637045.1:c.952C>T	ENSP00000490141.1:p.Pro318Ser
ENST00000637267.2:c.1288C>T	ENSP00000490293.2:p.Pro430Ser
ENST00000637304.1:c.952C>T	ENSP00000490872.1:p.Pro318Ser
ENST00000638007.1:c.952C>T	ENSP00000490723.1:p.Pro318Ser
ENST00000638087.1:c.952C>T	ENSP00000490673.1:p.Pro318Ser
ENST00000638128.1:c.511C>T	ENSP00000490934.1:p.Pro171Ser
ENST00000675069.1:c.-133-1049C>T	ENSP00000502467.1:n.-133-1049C>T
ENST00000675145.1:n.1836C>T
ENST00000303660.8:c.1285C>T	ENSP00000302501.4:p.Pro429Ser
ENST00000392861.6:c.1372C>T	ENSP00000376601.3:p.Pro458Ser
ENST00000409487.7:c.1288C>T	ENSP00000386854.2:p.Pro430Ser
ENST00000419938.5:c.655+1300C>T	ENSP00000394777.2:n.655+1300C>T
ENST00000427902.5:c.1375C>T	ENSP00000395496.2:p.Pro459Ser
ENST00000440875.5:c.1153+120C>T	ENSP00000475553.2:n.1153+120C>T
ENST00000539609.7:c.1216C>T	ENSP00000443792.2:p.Pro406Ser
ENST00000558170.6:c.1288C>T	ENSP00000454157.1:p.Pro430Ser
ENST00000627532.2:c.1288C>T	ENSP00000487174.1:p.Pro430Ser
NM_001171653.1:c.1216C>T	NP_001165124.1:p.Pro406Ser
NM_014795.3:c.1288C>T	NP_055610.1:p.Pro430Ser
XM_006712881.2:c.1288C>T	XP_006712944.1:p.Pro430Ser
XM_006712882.2:c.1288C>T	XP_006712945.1:p.Pro430Ser
XM_011512231.1:c.1279C>T	XP_011510533.1:p.Pro427Ser
XM_011512232.1:c.1267C>T	XP_011510534.1:p.Pro423Ser
NM_014795.4:c.1288C>T MANE Select	NP_055610.1:p.Pro430Ser
NM_001171653.2:c.1216C>T	NP_001165124.1:p.Pro406Ser