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Gene entry

ACTN2

actinin alpha 2

Chromosome
1
Cytoband
1q43
Variants (rsID)
54

ACTN2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q43). Its official name is “actinin alpha 2”. The reference table lists 54 variants (rsID) for this gene.

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Clinically classified variants

30 reference-table entries with clinical significance.

  • rs10802558Benignsingle nucleotide variant
  • rs114008185Benignsingle nucleotide variantDilated cardiomyopathy 1AA|Dilated cardiomyopathy 1AA|Primary familial hypertrophic cardiomyopathy|Cardiomyopathy
  • rs12063382Benignsingle nucleotide variantCardiovascular phenotype|Hypertrophic cardiomyopathy|Dilated cardiomyopathy 1AA|Dilated cardiomyopathy 1AA|Primary familial hypertrophic cardiomyopathy
  • rs16834301Benignsingle nucleotide variant
  • rs200631005Benignsingle nucleotide variantCardiovascular phenotype|Primary familial hypertrophic cardiomyopathy|Dilated cardiomyopathy 1AA|Dilated cardiomyopathy 1AA
  • rs2297861Benignsingle nucleotide variant
  • rs368367224Benignsingle nucleotide variantDilated cardiomyopathy 1AA|Primary familial hypertrophic cardiomyopathy
  • rs3738544Benignsingle nucleotide variant
  • rs4659713Benignsingle nucleotide variant
  • rs75222641Benignsingle nucleotide variant
  • rs7544174Benignsingle nucleotide variant
  • rs79971593Benignsingle nucleotide variant
  • rs121434525Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1AA|Primary dilated cardiomyopathy|Cardiovascular phenotype|Dilated cardiomyopathy 1AA|Primary familial hypertrophic cardiomyopathy|Cardiomyopathy
  • rs138452803Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Dilated cardiomyopathy 1AA|Dilated cardiomyopathy 1AA|Primary familial hypertrophic cardiomyopathy|Cardiomyopathy
  • rs139515659Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Dilated cardiomyopathy 1AA|Primary familial hypertrophic cardiomyopathy|Dilated cardiomyopathy 1AA|Cardiomyopathy
  • rs142482143Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Cardiomyopathy|Dilated cardiomyopathy 1AA|Primary familial hypertrophic cardiomyopathy|Dilated cardiomyopathy 1AA
  • rs146426213Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Dilated cardiomyopathy 1AA|Primary familial hypertrophic cardiomyopathy|Dilated cardiomyopathy 1AA|Cardiovascular phenotype|Cardiomyopathy
  • rs149433837Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Cardiomyopathy|Primary familial hypertrophic cardiomyopathy|Dilated cardiomyopathy 1AA|Dilated cardiomyopathy 1AA|Hypertrophic cardiomyopathy 1
  • rs149554430Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Dilated cardiomyopathy 1AA|Cardiomyopathy|Dilated cardiomyopathy 1AA|Primary familial hypertrophic cardiomyopathy
  • rs193922635Conflicting interpretationssingle nucleotide variantCardiomyopathy|Hypertrophic cardiomyopathy 1|Cardiovascular phenotype|Primary familial hypertrophic cardiomyopathy|Dilated cardiomyopathy 1AA|Primary familial hypertrophic cardiomyopathy|Dilated cardiomyopathy 1AA
  • rs200248944Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Familial hypertrophic cardiomyopathy 23|Dilated cardiomyopathy 1AA|Primary familial hypertrophic cardiomyopathy|Cardiomyopathy
  • rs200529923Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1AA|Cardiovascular phenotype|Dilated cardiomyopathy 1AA|Primary familial hypertrophic cardiomyopathy|Cardiomyopathy
  • rs34263845Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1AA|Primary familial hypertrophic cardiomyopathy|Dilated cardiomyopathy 1AA|Cardiomyopathy
  • rs34827377Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1AA|Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Dilated cardiomyopathy 1AA|Cardiovascular phenotype|Cardiomyopathy
  • rs764583678Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1AA|Primary familial hypertrophic cardiomyopathy|Dilated cardiomyopathy 1AA
  • rs886039127Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Dilated cardiomyopathy 1AA
  • rs112529745Likely benignsingle nucleotide variant
  • rs7522310Likely benignsingle nucleotide variantHypertrophic cardiomyopathy
  • rs199920384Uncertain significancesingle nucleotide variantDilated cardiomyopathy 1AA|Primary familial hypertrophic cardiomyopathy
  • rs786205453Uncertain significancesingle nucleotide variant

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.