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Gene entry

TK2

thymidine kinase 2

Chromosome
16
Cytoband
16q21
Variants (rsID)
14

TK2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16q21). Its official name is “thymidine kinase 2”. The reference table lists 14 variants (rsID) for this gene.

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Clinically classified variants

8 reference-table entries with clinical significance.

  • rs16956600Benignsingle nucleotide variantMitochondrial DNA depletion syndrome, myopathic form
  • rs137886900Conflicting interpretationssingle nucleotide variantMitochondrial DNA depletion syndrome, myopathic form
  • rs754140768Conflicting interpretationssingle nucleotide variantMitochondrial DNA depletion syndrome, myopathic form
  • rs137854429Pathogenicsingle nucleotide variantMitochondrial DNA depletion syndrome, myopathic form
  • rs137854431Pathogenicsingle nucleotide variantMitochondrial DNA depletion syndrome, myopathic form
  • rs138439950Pathogenicsingle nucleotide variantMitochondrial DNA depletion syndrome, myopathic form|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3|Mitochondrial DNA depletion syndrome, myopathic form
  • rs281865493Pathogenicsingle nucleotide variantMitochondrial DNA depletion syndrome, myopathic form
  • rs281865494Pathogenicsingle nucleotide variantMitochondrial DNA depletion syndrome, myopathic form|Mitochondrial DNA depletion syndrome|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3|Mitochondrial DNA depletion syndrome, myopathic form

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.