Canonical Allele Identifier: CA378842009

Gene: CYP2E1

Linked Data

• MyVariant Identifiers: chr10:g.135352295T>C (hg19) ; chr10:g.133538791T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133538791T>C , CM000672.2:g.133538791T>C	GRCh38
NC_000010.10:g.135352295T>C , CM000672.1:g.135352295T>C	GRCh37
NC_000010.9:g.135202285T>C	NCBI36
NG_008383.1:g.16429T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252945.8:c.1309T>C MANE Select	ENSP00000252945.3:p.Cys437Arg
ENST00000252945.7:c.1309T>C	ENSP00000252945.3:p.Cys437Arg
ENST00000368520.1:n.1358+899T>C
ENST00000418356.1:c.898T>C	ENSP00000397299.1:p.Cys300Arg
ENST00000421586.5:c.1048T>C	ENSP00000412754.1:p.Cys350Arg
ENST00000463117.6:c.1309T>C	ENSP00000440689.1:p.Cys437Arg
ENST00000469258.1:n.405T>C
ENST00000541080.5:c.725T>C
NM_000773.3:c.1309T>C	NP_000764.1:p.Cys437Arg
NM_000773.4:c.1309T>C MANE Select	NP_000764.1:p.Cys437Arg