Canonical Allele Identifier: CA5767864

Gene: CYP2E1

Linked Data

• dbSNP Id: rs766603842
• ExAC: 10:135352294 G / A
• gnomAD v2: 10-135352294-G-A
• gnomAD v4: 10-133538790-G-A
• MyVariant Identifiers: chr10:g.135352294G>A (hg19) ; chr10:g.133538790G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133538790G>A , CM000672.2:g.133538790G>A	GRCh38
NC_000010.10:g.135352294G>A , CM000672.1:g.135352294G>A	GRCh37
NC_000010.9:g.135202284G>A	NCBI36
NG_008383.1:g.16428G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252945.8:c.1308G>A MANE Select	ENSP00000252945.3:p.Val436=
ENST00000252945.7:c.1308G>A	ENSP00000252945.3:p.Val436=
ENST00000368520.1:n.1358+898G>A
ENST00000418356.1:c.897G>A	ENSP00000397299.1:p.Val299=
ENST00000421586.5:c.1047G>A	ENSP00000412754.1:p.Val349=
ENST00000463117.6:c.1308G>A	ENSP00000440689.1:p.Val436=
ENST00000469258.1:n.404G>A
ENST00000541080.5:c.724G>A
NM_000773.3:c.1308G>A	NP_000764.1:p.Val436=
NM_000773.4:c.1308G>A MANE Select	NP_000764.1:p.Val436=