Canonical Allele Identifier: CA348699577

Gene: ZEB2

Linked Data

• ClinVar Variation Id: 1707821
• ClinVar RCV Id: RCV002286982
• MyVariant Identifiers: chr2:g.145147322T>C (hg19) ; chr2:g.144389755T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.144389755T>C , CM000664.2:g.144389755T>C	GRCh38
NC_000002.11:g.145147322T>C , CM000664.1:g.145147322T>C	GRCh37
NC_000002.10:g.144863792T>C	NCBI36
NG_016431.1:g.135637A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689298.1:c.*3190A>G	ENSP00000508434.1:n.*3190A>G
ENST00000440875.6:c.2564A>G	ENSP00000475553.3:p.Gln855Arg
ENST00000627532.3:c.3341A>G MANE Select	ENSP00000487174.1:p.Gln1114Arg
ENST00000636026.2:c.3231-2A>G	ENSP00000490776.1:n.3231-2A>G
ENST00000636179.1:n.3310A>G
ENST00000636413.1:c.3005A>G	ENSP00000490508.1:p.Gln1002Arg
ENST00000636471.1:c.3416A>G	ENSP00000490317.1:p.Gln1139Arg
ENST00000636732.2:c.*3058A>G	ENSP00000490175.1:n.*3058A>G
ENST00000636820.1:n.3441A>G
ENST00000637045.1:c.3005A>G	ENSP00000490141.1:p.Gln1002Arg
ENST00000637304.1:c.3005A>G	ENSP00000490872.1:p.Gln1002Arg
ENST00000638007.1:c.3005A>G	ENSP00000490723.1:p.Gln1002Arg
ENST00000638087.1:c.3005A>G	ENSP00000490673.1:p.Gln1002Arg
ENST00000638128.1:c.2564A>G	ENSP00000490934.1:p.Gln855Arg
ENST00000639389.1:c.151+6657A>G	ENSP00000492572.1:n.151+6657A>G
ENST00000647488.1:c.561A>G	ENSP00000494820.1:n.561A>G
ENST00000675069.1:c.872A>G	ENSP00000502467.1:p.Gln291Arg
ENST00000303660.8:c.3338A>G	ENSP00000302501.4:p.Gln1113Arg
ENST00000409487.7:c.3341A>G	ENSP00000386854.2:p.Gln1114Arg
ENST00000419938.5:c.656-873A>G	ENSP00000394777.2:n.656-873A>G
ENST00000539609.7:c.3269A>G	ENSP00000443792.2:p.Gln1090Arg
ENST00000558170.6:c.3341A>G	ENSP00000454157.1:p.Gln1114Arg
ENST00000627532.2:c.3341A>G	ENSP00000487174.1:p.Gln1114Arg
NM_001171653.1:c.3269A>G	NP_001165124.1:p.Gln1090Arg
NM_014795.3:c.3341A>G	NP_055610.1:p.Gln1114Arg
XM_006712881.2:c.3341A>G	XP_006712944.1:p.Gln1114Arg
XM_006712882.2:c.3341A>G	XP_006712945.1:p.Gln1114Arg
XM_011512231.1:c.3332A>G	XP_011510533.1:p.Gln1111Arg
XM_011512232.1:c.3320A>G	XP_011510534.1:p.Gln1107Arg
NM_014795.4:c.3341A>G MANE Select	NP_055610.1:p.Gln1114Arg
NM_001171653.2:c.3269A>G	NP_001165124.1:p.Gln1090Arg