Canonical Allele Identifier: CA378842012

Gene: CYP2E1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252945.8:c.1309T>G MANE Select	ENSP00000252945.3:p.Cys437Gly
ENST00000252945.7:c.1309T>G	ENSP00000252945.3:p.Cys437Gly
ENST00000368520.1:n.1358+899T>G
ENST00000418356.1:c.898T>G	ENSP00000397299.1:p.Cys300Gly
ENST00000421586.5:c.1048T>G	ENSP00000412754.1:p.Cys350Gly
ENST00000463117.6:c.1309T>G	ENSP00000440689.1:p.Cys437Gly
ENST00000469258.1:n.405T>G
ENST00000541080.5:c.725T>G
NM_000773.3:c.1309T>G	NP_000764.1:p.Cys437Gly
NM_000773.4:c.1309T>G MANE Select	NP_000764.1:p.Cys437Gly