CYP2E1*2 Allele

**Semantic type:** Gene or Genome

**Definition:** Human CYP2E1*2 allele is located within 10q24.3-qter and is approximately 12 kb in length. This allele, a variant form of the CYP2E1 wild-type allele, encodes cytochrome P450 2E1*2 protein. The CYP2E1*2 allele exhibits a clinically-relevant SNP (g.1132G>A) in exon 2 that results in a R76H coding change. This alteration in protein sequence severely decreases the enzymatic activity of the cytochrome P450 2E1*2 protein.

**Synonyms:** - CYP2E1*2 - CYP2E1, R76H - CYP2E1, g.1132G>A - Cytochrome P450, Family 2, Subfamily E, Polypeptide 1*2 Allele