Canonical Allele Identifier: CA378842036

Gene: CYP2E1

Linked Data

• MyVariant Identifiers: chr10:g.135352296G>A (hg19) ; chr10:g.133538792G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133538792G>A , CM000672.2:g.133538792G>A	GRCh38
NC_000010.10:g.135352296G>A , CM000672.1:g.135352296G>A	GRCh37
NC_000010.9:g.135202286G>A	NCBI36
NG_008383.1:g.16430G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252945.8:c.1310G>A MANE Select	ENSP00000252945.3:p.Cys437Tyr
ENST00000252945.7:c.1310G>A	ENSP00000252945.3:p.Cys437Tyr
ENST00000368520.1:n.1358+900G>A
ENST00000418356.1:c.899G>A	ENSP00000397299.1:p.Cys300Tyr
ENST00000421586.5:c.1049G>A	ENSP00000412754.1:p.Cys350Tyr
ENST00000463117.6:c.1310G>A	ENSP00000440689.1:p.Cys437Tyr
ENST00000469258.1:n.406G>A
ENST00000541080.5:c.726G>A
NM_000773.3:c.1310G>A	NP_000764.1:p.Cys437Tyr
NM_000773.4:c.1310G>A MANE Select	NP_000764.1:p.Cys437Tyr