Canonical Allele Identifier: CA934178916

Gene: CYP2E1

Linked Data

• dbSNP Id: rs1851437367
• gnomAD v3: 10-133538718-G-T
• gnomAD v4: 10-133538718-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133538718G>T , CM000672.2:g.133538718G>T	GRCh38
NC_000010.10:g.135352222G>T , CM000672.1:g.135352222G>T	GRCh37
NC_000010.9:g.135202212G>T	NCBI36
NG_008383.1:g.16356G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252945.8:c.1298-62G>T MANE Select	ENSP00000252945.3:n.1298-62G>T
ENST00000252945.7:c.1298-62G>T	ENSP00000252945.3:n.1298-62G>T
ENST00000368520.1:n.1358+826G>T
ENST00000418356.1:c.887-62G>T	ENSP00000397299.1:n.887-62G>T
ENST00000421586.5:c.1037-62G>T	ENSP00000412754.1:n.1037-62G>T
ENST00000463117.6:c.1298-62G>T	ENSP00000440689.1:n.1298-62G>T
ENST00000469258.1:n.394-62G>T
ENST00000541080.5:c.714-62G>T
NM_000773.3:c.1298-62G>T	NP_000764.1:n.1298-62G>T
NM_000773.4:c.1298-62G>T MANE Select	NP_000764.1:n.1298-62G>T