CYP2C19*2 Allele

**Semantic type:** Gene or Genome

**Definition:** Human CYP2C19*2 allele is located within 10q24.1-q24.3 and is approximately 90 kb in length. This allele, a variant form of the CYP2C19 wild-type allele, encodes cytochrome P450 2C19*2 protein. The CYP2C19*2 allele exhibits a clinically-relevant SNP (c.681G>A) in exon 5 that causes a splicing defect; this alteration results in a truncated cytochrome P450 2C19*2 protein that is enzymatically inactive.

**Synonyms:** - CYP2C19*2 - CYP2C19, c.681G>A - CYP2C19, m1 - CYP2C19, m1A - CYP2C19, m1B - CYP2C19m1 - Cytochrome P450, Family 2, Subfamily C, Polypeptide 19*2 Allele