Canonical Allele Identifier: CA378835303

Gene: CYP2E1

Linked Data

• gnomAD v4: 10-133532186-C-G
• MyVariant Identifiers: chr10:g.135345690C>G (hg19) ; chr10:g.133532186C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133532186C>G , CM000672.2:g.133532186C>G	GRCh38
NC_000010.10:g.135345690C>G , CM000672.1:g.135345690C>G	GRCh37
NC_000010.9:g.135195680C>G	NCBI36
NG_008383.1:g.9824C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252945.8:c.550C>G MANE Select	ENSP00000252945.3:p.Leu184Val
ENST00000252945.7:c.550C>G	ENSP00000252945.3:p.Leu184Val
ENST00000368520.1:n.611C>G
ENST00000418356.1:c.139C>G	ENSP00000397299.1:p.Leu47Val
ENST00000421586.5:c.289C>G	ENSP00000412754.1:p.Leu97Val
ENST00000463117.6:c.550C>G	ENSP00000440689.1:p.Leu184Val
ENST00000477500.5:n.448+452C>G
ENST00000541080.5:c.226+452C>G
NM_000773.3:c.550C>G	NP_000764.1:p.Leu184Val
NM_000773.4:c.550C>G MANE Select	NP_000764.1:p.Leu184Val