Canonical Allele Identifier: CA1946816415

Gene: CYP2E1

Linked Data

• dbSNP Id: rs2249694
• gnomAD v4: 10-133538649-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133538649A>C , CM000672.2:g.133538649A>C	GRCh38
NC_000010.10:g.135352153A>C , CM000672.1:g.135352153A>C	GRCh37
NC_000010.9:g.135202143A>C	NCBI36
NG_008383.1:g.16287A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252945.8:c.1298-131A>C MANE Select	ENSP00000252945.3:n.1298-131A>C
ENST00000252945.7:c.1298-131A>C	ENSP00000252945.3:n.1298-131A>C
ENST00000368520.1:n.1358+757A>C
ENST00000418356.1:c.887-131A>C	ENSP00000397299.1:n.887-131A>C
ENST00000421586.5:c.1037-131A>C	ENSP00000412754.1:n.1037-131A>C
ENST00000463117.6:c.1298-131A>C	ENSP00000440689.1:n.1298-131A>C
ENST00000469258.1:n.394-131A>C
ENST00000541080.5:c.714-131A>C
NM_000773.3:c.1298-131A>C	NP_000764.1:n.1298-131A>C
NM_000773.4:c.1298-131A>C MANE Select	NP_000764.1:n.1298-131A>C