Nomenclature of Selected HLA-B alleles

Allele namedbSNP reference identifier for allele location
HLA-B*57:01 rs2395029 is a tag SNP for HLA-B*57:01

For the MHC region, variations in genes such as HLA-B occur across the whole sequence of the gene, not a single locus. Therefore, the HLA-B*57:01 allele is defined by its sequence (GenBank: AF196183​.1) rather than single coding or protein variants. If there is strong linkage disequilibrium between one or more SNPs, the presence of these SNPs (tag SNPs) may be used for HLA typing (29). In the case of HLA-B, the presence of the rs2395029 allele (a SNP in the HLA complex P5 gene) is 99.9% predictive of the presence of an HLA-B*57:01 allele (30).

Pharmacogenetic Allele Nomenclature: International Workgroup Recommendations for Test Result Reporting (4).

Guidelines on the naming of HLA genes are available from HLA Nomenclature.

From: Abacavir Therapy and HLA-B*57:01 Genotype

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Medical Genetics Summaries [Internet].
Pratt VM, Scott SA, Pirmohamed M, et al., editors.
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