Canonical Allele Identifier: CA348699836

Gene: ZEB2

Linked Data

• ClinVar Variation Id: 668149
• ClinVar RCV Id: RCV000826925 ; RCV002536084
• dbSNP Id: rs1573707981
• gnomAD v4: 2-144389810-G-T
• MyVariant Identifiers: chr2:g.145147377G>T (hg19) ; chr2:g.144389810G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.144389810G>T , CM000664.2:g.144389810G>T	GRCh38
NC_000002.11:g.145147377G>T , CM000664.1:g.145147377G>T	GRCh37
NC_000002.10:g.144863847G>T	NCBI36
NG_016431.1:g.135582C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689298.1:c.*3135C>A	ENSP00000508434.1:n.*3135C>A
ENST00000440875.6:c.2509C>A	ENSP00000475553.3:p.Arg837Ser
ENST00000627532.3:c.3286C>A MANE Select	ENSP00000487174.1:p.Arg1096Ser
ENST00000636026.2:c.3231-57C>A	ENSP00000490776.1:n.3231-57C>A
ENST00000636179.1:n.3255C>A
ENST00000636413.1:c.2950C>A	ENSP00000490508.1:p.Arg984Ser
ENST00000636471.1:c.3361C>A	ENSP00000490317.1:p.Arg1121Ser
ENST00000636732.2:c.*3003C>A	ENSP00000490175.1:n.*3003C>A
ENST00000636820.1:n.3386C>A
ENST00000637045.1:c.2950C>A	ENSP00000490141.1:p.Arg984Ser
ENST00000637304.1:c.2950C>A	ENSP00000490872.1:p.Arg984Ser
ENST00000638007.1:c.2950C>A	ENSP00000490723.1:p.Arg984Ser
ENST00000638087.1:c.2950C>A	ENSP00000490673.1:p.Arg984Ser
ENST00000638128.1:c.2509C>A	ENSP00000490934.1:p.Arg837Ser
ENST00000639389.1:c.151+6602C>A	ENSP00000492572.1:n.151+6602C>A
ENST00000647488.1:c.506C>A	ENSP00000494820.1:n.506C>A
ENST00000675069.1:c.817C>A	ENSP00000502467.1:p.Arg273Ser
ENST00000303660.8:c.3283C>A	ENSP00000302501.4:p.Arg1095Ser
ENST00000409487.7:c.3286C>A	ENSP00000386854.2:p.Arg1096Ser
ENST00000419938.5:c.656-928C>A	ENSP00000394777.2:n.656-928C>A
ENST00000539609.7:c.3214C>A	ENSP00000443792.2:p.Arg1072Ser
ENST00000558170.6:c.3286C>A	ENSP00000454157.1:p.Arg1096Ser
ENST00000627532.2:c.3286C>A	ENSP00000487174.1:p.Arg1096Ser
NM_001171653.1:c.3214C>A	NP_001165124.1:p.Arg1072Ser
NM_014795.3:c.3286C>A	NP_055610.1:p.Arg1096Ser
XM_006712881.2:c.3286C>A	XP_006712944.1:p.Arg1096Ser
XM_006712882.2:c.3286C>A	XP_006712945.1:p.Arg1096Ser
XM_011512231.1:c.3277C>A	XP_011510533.1:p.Arg1093Ser
XM_011512232.1:c.3265C>A	XP_011510534.1:p.Arg1089Ser
NM_014795.4:c.3286C>A MANE Select	NP_055610.1:p.Arg1096Ser
NM_001171653.2:c.3214C>A	NP_001165124.1:p.Arg1072Ser