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Gene entry

AARS2

alanyl-tRNA synthetase 2, mitochondrial

Chromosome
6
Cytoband
6p21.1
Variants (rsID)
16

AARS2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 6 (region 6p21.1). Its official name is “alanyl-tRNA synthetase 2, mitochondrial”. The reference table lists 16 variants (rsID) for this gene.

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Clinically classified variants

16 reference-table entries with clinical significance.

  • rs1056093Benignsingle nucleotide variantCombined oxidative phosphorylation defect type 8
  • rs112247130Benignsingle nucleotide variantCombined oxidative phosphorylation defect type 8
  • rs113433939Benignsingle nucleotide variantCombined oxidative phosphorylation defect type 8
  • rs115815965Benignsingle nucleotide variantCombined oxidative phosphorylation defect type 8
  • rs150125794Benignsingle nucleotide variantCombined oxidative phosphorylation defect type 8
  • rs35623954Benignsingle nucleotide variantCombined oxidative phosphorylation defect type 8
  • rs78525157Benignsingle nucleotide variantCombined oxidative phosphorylation defect type 8
  • rs199919912Conflicting interpretationssingle nucleotide variantCombined oxidative phosphorylation defect type 8
  • rs202171981Conflicting interpretationssingle nucleotide variantCombined oxidative phosphorylation defect type 8
  • rs772455600Conflicting interpretationssingle nucleotide variantCombined oxidative phosphorylation defect type 8
  • rs863223860Conflicting interpretationssingle nucleotide variantCombined oxidative phosphorylation defect type 8
  • rs147091256Likely benignsingle nucleotide variantCombined oxidative phosphorylation defect type 8
  • rs138119149Pathogenicsingle nucleotide variantCombined oxidative phosphorylation defect type 8|Inborn genetic diseases|Pulmonary hypoplasia
  • rs587777589PathogenicDuplicationCombined oxidative phosphorylation defect type 8|Pulmonary hypoplasia
  • rs146924860Uncertain significancesingle nucleotide variantCombined oxidative phosphorylation defect type 8
  • rs199985183Uncertain significancesingle nucleotide variantCombined oxidative phosphorylation defect type 8

Public references

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