Canonical Allele Identifier: CA934195924

Gene: CYP2E1

Linked Data

• dbSNP Id: rs1851343807
• gnomAD v3: 10-133531980-G-C
• gnomAD v4: 10-133531980-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133531980G>C , CM000672.2:g.133531980G>C	GRCh38
NC_000010.10:g.135345484G>C , CM000672.1:g.135345484G>C	GRCh37
NC_000010.9:g.135195474G>C	NCBI36
NG_008383.1:g.9618G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252945.8:c.488-144G>C MANE Select	ENSP00000252945.3:n.488-144G>C
ENST00000252945.7:c.488-144G>C	ENSP00000252945.3:n.488-144G>C
ENST00000368520.1:n.405G>C
ENST00000418356.1:c.77-144G>C	ENSP00000397299.1:n.77-144G>C
ENST00000421586.5:c.227-144G>C	ENSP00000412754.1:n.227-144G>C
ENST00000463117.6:c.488-144G>C	ENSP00000440689.1:n.488-144G>C
ENST00000477500.5:n.448+246G>C
ENST00000480558.1:n.713-144G>C
ENST00000541080.5:c.226+246G>C
NM_000773.3:c.488-144G>C	NP_000764.1:n.488-144G>C
NM_000773.4:c.488-144G>C MANE Select	NP_000764.1:n.488-144G>C