Nomenclature for human CYP2D6 alleles

Pharmacogenetics. 1996 Jun;6(3):193-201. doi: 10.1097/00008571-199606000-00001.


To standardize CYP2D6 allele nomenclature, and to conform with international human gene nomenclature guidelines, an alternative to the current arbitrary system is described. Based on recommendations for human genome nomenclature, we propose that alleles be designated by CYP2D6 followed by an asterisk and a combination of roman letters and arabic numerals distinct for each allele with the number specifying the key mutation and, where appropriate, a letter specifying additional mutations. Criteria for classification as a separate allele and protein nomenclature are also presented.

MeSH terms

  • Alleles*
  • Cytochrome P-450 CYP2D6 / genetics*
  • Cytochrome P-450 CYP2D6 / metabolism
  • Gene Amplification
  • Genotype
  • Guidelines as Topic
  • Humans
  • Multigene Family
  • Mutation
  • Terminology as Topic*


  • Cytochrome P-450 CYP2D6