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Gene entry

EARS2

glutamyl-tRNA synthetase 2, mitochondrial

Chromosome
16
Cytoband
16p12.2
Variants (rsID)
11

EARS2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16p12.2). Its official name is “glutamyl-tRNA synthetase 2, mitochondrial”. The reference table lists 11 variants (rsID) for this gene.

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Clinically classified variants

7 reference-table entries with clinical significance.

  • rs6497671Benignsingle nucleotide variantLeukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
  • rs74014932Benignsingle nucleotide variantLeukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
  • rs77939239Benignsingle nucleotide variantLeukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
  • rs200139797Conflicting interpretationssingle nucleotide variantLeukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
  • rs746087016Conflicting interpretationssingle nucleotide variantLeukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
  • rs201842633Pathogenicsingle nucleotide variantLeukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome|Inborn genetic diseases
  • rs376103091Pathogenicsingle nucleotide variantLeukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome|Inborn genetic diseases|9 conditions

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.