Canonical Allele Identifier: CA429441130

Gene: ZEB2

Linked Data

• ClinVar Variation Id: 2090996
• ClinVar RCV Id: RCV003013385
• dbSNP Id: rs772764893
• gnomAD v4: 2-144389645-G-A
• MyVariant Identifiers: chr2:g.145147212G>A (hg19) ; chr2:g.144389645G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.144389645G>A , CM000664.2:g.144389645G>A	GRCh38
NC_000002.11:g.145147212G>A , CM000664.1:g.145147212G>A	GRCh37
NC_000002.10:g.144863682G>A	NCBI36
NG_016431.1:g.135747C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000689298.1:c.*3300C>T	ENSP00000508434.1:n.*3300C>T
ENST00000440875.6:c.2674C>T	ENSP00000475553.3:p.Leu892=
ENST00000627532.3:c.3451C>T MANE Select	ENSP00000487174.1:p.Leu1151=
ENST00000636026.2:c.3339C>T	ENSP00000490776.1:p.Ser1113=
ENST00000636179.1:n.3420C>T
ENST00000636413.1:c.3115C>T	ENSP00000490508.1:p.Leu1039=
ENST00000636471.1:c.3526C>T	ENSP00000490317.1:p.Leu1176=
ENST00000636732.2:c.*3168C>T	ENSP00000490175.1:n.*3168C>T
ENST00000636820.1:n.3551C>T
ENST00000637045.1:c.3115C>T	ENSP00000490141.1:p.Leu1039=
ENST00000637304.1:c.3115C>T	ENSP00000490872.1:p.Leu1039=
ENST00000638007.1:c.3115C>T	ENSP00000490723.1:p.Leu1039=
ENST00000638087.1:c.3115C>T	ENSP00000490673.1:p.Leu1039=
ENST00000638128.1:c.2674C>T	ENSP00000490934.1:p.Leu892=
ENST00000639389.1:c.151+6767C>T	ENSP00000492572.1:n.151+6767C>T
ENST00000647488.1:c.671C>T	ENSP00000494820.1:n.671C>T
ENST00000675069.1:c.982C>T	ENSP00000502467.1:p.Leu328=
ENST00000303660.8:c.3448C>T	ENSP00000302501.4:p.Leu1150=
ENST00000409487.7:c.3451C>T	ENSP00000386854.2:p.Leu1151=
ENST00000419938.5:c.656-763C>T	ENSP00000394777.2:n.656-763C>T
ENST00000539609.7:c.3379C>T	ENSP00000443792.2:p.Leu1127=
ENST00000558170.6:c.3451C>T	ENSP00000454157.1:p.Leu1151=
ENST00000627532.2:c.3451C>T	ENSP00000487174.1:p.Leu1151=
NM_001171653.1:c.3379C>T	NP_001165124.1:p.Leu1127=
NM_014795.3:c.3451C>T	NP_055610.1:p.Leu1151=
XM_006712881.2:c.3451C>T	XP_006712944.1:p.Leu1151=
XM_006712882.2:c.3451C>T	XP_006712945.1:p.Leu1151=
XM_011512231.1:c.3442C>T	XP_011510533.1:p.Leu1148=
XM_011512232.1:c.3430C>T	XP_011510534.1:p.Leu1144=
NM_014795.4:c.3451C>T MANE Select	NP_055610.1:p.Leu1151=
NM_001171653.2:c.3379C>T	NP_001165124.1:p.Leu1127=