Canonical Allele Identifier: CA348712000

Gene: ZEB2

Linked Data

• gnomAD v4: 2-144399816-T-G
• MyVariant Identifiers: chr2:g.145157383T>G (hg19) ; chr2:g.144399816T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.144399816T>G , CM000664.2:g.144399816T>G	GRCh38
NC_000002.11:g.145157383T>G , CM000664.1:g.145157383T>G	GRCh37
NC_000002.10:g.144873853T>G	NCBI36
NG_016431.1:g.125576A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689298.1:c.*1220A>C	ENSP00000508434.1:n.*1220A>C
ENST00000440875.6:c.594A>C	ENSP00000475553.3:p.Leu198Phe
ENST00000627532.3:c.1371A>C MANE Select	ENSP00000487174.1:p.Leu457Phe
ENST00000636026.2:c.1371A>C	ENSP00000490776.1:p.Leu457Phe
ENST00000636179.1:n.1340A>C
ENST00000636413.1:c.1035A>C	ENSP00000490508.1:p.Leu345Phe
ENST00000636471.1:c.1446A>C	ENSP00000490317.1:p.Leu482Phe
ENST00000636732.2:c.*1088A>C	ENSP00000490175.1:n.*1088A>C
ENST00000636820.1:n.1471A>C
ENST00000637045.1:c.1035A>C	ENSP00000490141.1:p.Leu345Phe
ENST00000637267.2:c.1371A>C	ENSP00000490293.2:p.Leu457Phe
ENST00000637304.1:c.1035A>C	ENSP00000490872.1:p.Leu345Phe
ENST00000638007.1:c.1035A>C	ENSP00000490723.1:p.Leu345Phe
ENST00000638087.1:c.1035A>C	ENSP00000490673.1:p.Leu345Phe
ENST00000638128.1:c.594A>C	ENSP00000490934.1:p.Leu198Phe
ENST00000675069.1:c.-133-966A>C	ENSP00000502467.1:n.-133-966A>C
ENST00000675145.1:n.1919A>C
ENST00000303660.8:c.1368A>C	ENSP00000302501.4:p.Leu456Phe
ENST00000409487.7:c.1371A>C	ENSP00000386854.2:p.Leu457Phe
ENST00000419938.5:c.655+1383A>C	ENSP00000394777.2:n.655+1383A>C
ENST00000427902.5:c.1458A>C	ENSP00000395496.2:p.Leu486Phe
ENST00000440875.5:c.1153+203A>C	ENSP00000475553.2:n.1153+203A>C
ENST00000539609.7:c.1299A>C	ENSP00000443792.2:p.Leu433Phe
ENST00000558170.6:c.1371A>C	ENSP00000454157.1:p.Leu457Phe
ENST00000627532.2:c.1371A>C	ENSP00000487174.1:p.Leu457Phe
NM_001171653.1:c.1299A>C	NP_001165124.1:p.Leu433Phe
NM_014795.3:c.1371A>C	NP_055610.1:p.Leu457Phe
XM_006712881.2:c.1371A>C	XP_006712944.1:p.Leu457Phe
XM_006712882.2:c.1371A>C	XP_006712945.1:p.Leu457Phe
XM_011512231.1:c.1362A>C	XP_011510533.1:p.Leu454Phe
XM_011512232.1:c.1350A>C	XP_011510534.1:p.Leu450Phe
NM_014795.4:c.1371A>C MANE Select	NP_055610.1:p.Leu457Phe
NM_001171653.2:c.1299A>C	NP_001165124.1:p.Leu433Phe