Canonical Allele Identifier: CA348699928

Gene: ZEB2

Linked Data

• ClinVar Variation Id: 534635
• ClinVar RCV Id: RCV000678856 ; RCV000642256
• dbSNP Id: rs1553960775
• MyVariant Identifiers: chr2:g.145147396T>G (hg19) ; chr2:g.144389829T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.144389829T>G , CM000664.2:g.144389829T>G	GRCh38
NC_000002.11:g.145147396T>G , CM000664.1:g.145147396T>G	GRCh37
NC_000002.10:g.144863866T>G	NCBI36
NG_016431.1:g.135563A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689298.1:c.*3116A>C	ENSP00000508434.1:n.*3116A>C
ENST00000440875.6:c.2490A>C	ENSP00000475553.3:p.Glu830Asp
ENST00000627532.3:c.3267A>C MANE Select	ENSP00000487174.1:p.Glu1089Asp
ENST00000636026.2:c.3230+37A>C	ENSP00000490776.1:n.3230+37A>C
ENST00000636179.1:n.3236A>C
ENST00000636413.1:c.2931A>C	ENSP00000490508.1:p.Glu977Asp
ENST00000636471.1:c.3342A>C	ENSP00000490317.1:p.Glu1114Asp
ENST00000636732.2:c.*2984A>C	ENSP00000490175.1:n.*2984A>C
ENST00000636820.1:n.3367A>C
ENST00000637045.1:c.2931A>C	ENSP00000490141.1:p.Glu977Asp
ENST00000637304.1:c.2931A>C	ENSP00000490872.1:p.Glu977Asp
ENST00000638007.1:c.2931A>C	ENSP00000490723.1:p.Glu977Asp
ENST00000638087.1:c.2931A>C	ENSP00000490673.1:p.Glu977Asp
ENST00000638128.1:c.2490A>C	ENSP00000490934.1:p.Glu830Asp
ENST00000639389.1:c.151+6583A>C	ENSP00000492572.1:n.151+6583A>C
ENST00000647488.1:c.487A>C	ENSP00000494820.1:n.487A>C
ENST00000675069.1:c.798A>C	ENSP00000502467.1:p.Glu266Asp
ENST00000303660.8:c.3264A>C	ENSP00000302501.4:p.Glu1088Asp
ENST00000409487.7:c.3267A>C	ENSP00000386854.2:p.Glu1089Asp
ENST00000419938.5:c.656-947A>C	ENSP00000394777.2:n.656-947A>C
ENST00000539609.7:c.3195A>C	ENSP00000443792.2:p.Glu1065Asp
ENST00000558170.6:c.3267A>C	ENSP00000454157.1:p.Glu1089Asp
ENST00000627532.2:c.3267A>C	ENSP00000487174.1:p.Glu1089Asp
NM_001171653.1:c.3195A>C	NP_001165124.1:p.Glu1065Asp
NM_014795.3:c.3267A>C	NP_055610.1:p.Glu1089Asp
XM_006712881.2:c.3267A>C	XP_006712944.1:p.Glu1089Asp
XM_006712882.2:c.3267A>C	XP_006712945.1:p.Glu1089Asp
XM_011512231.1:c.3258A>C	XP_011510533.1:p.Glu1086Asp
XM_011512232.1:c.3246A>C	XP_011510534.1:p.Glu1082Asp
NM_014795.4:c.3267A>C MANE Select	NP_055610.1:p.Glu1089Asp
NM_001171653.2:c.3195A>C	NP_001165124.1:p.Glu1065Asp