Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

ACTA2

actin alpha 2, smooth muscle

Chromosome
10
Cytoband
10q23.31
Variants (rsID)
38

ACTA2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 10 (region 10q23.31). Its official name is “actin alpha 2, smooth muscle”. The reference table lists 38 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

22 reference-table entries with clinical significance.

  • rs5030766Benignsingle nucleotide variantMultisystemic smooth muscle dysfunction syndrome|Familial thoracic aortic aneurysm and aortic dissection|Autoimmune lymphoproliferative syndrome type 1|Moyamoya disease
  • rs141933412Conflicting interpretationssingle nucleotide variantMultisystemic smooth muscle dysfunction syndrome|Familial thoracic aortic aneurysm and aortic dissection|Connective tissue disorder|Aortic aneurysm, familial thoracic 6
  • rs199773697Conflicting interpretationssingle nucleotide variantMultisystemic smooth muscle dysfunction syndrome|Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 6
  • rs727502878Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 6
  • rs746972765Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Aortic aneurysm, familial thoracic 6|Familial thoracic aortic aneurysm and aortic dissection
  • rs762567614Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Multisystemic smooth muscle dysfunction syndrome|Cardiovascular phenotype|Aortic aneurysm, familial thoracic 6
  • rs886038978Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Aortic aneurysm, familial thoracic 6
  • rs1064793016Likely pathogenicsingle nucleotide variant
  • rs1254836237Likely pathogenicsingle nucleotide variantAortic aneurysm, familial thoracic 6
  • rs794728025Likely pathogenicsingle nucleotide variant
  • rs112602953Pathogenicsingle nucleotide variantAortic aneurysm, familial thoracic 6|Cardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection
  • rs112901682Pathogenicsingle nucleotide variantAortic aneurysm, familial thoracic 6|Familial thoracic aortic aneurysm and aortic dissection|See cases
  • rs121434526Pathogenicsingle nucleotide variantAortic aneurysm, familial thoracic 6|Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 2|Cardiovascular phenotype
  • rs121434527Pathogenicsingle nucleotide variantAortic aneurysm, familial thoracic 6|Moyamoya disease 5
  • rs121434528Pathogenicsingle nucleotide variantAortic aneurysm, familial thoracic 6|Moyamoya disease 5|Cardiovascular phenotype
  • rs397515325Pathogenicsingle nucleotide variantAortic aneurysm, familial thoracic 6
  • rs794728021Pathogenicsingle nucleotide variantAortic aneurysm, familial thoracic 6|Cardiovascular phenotype|Familial aortopathy|Familial thoracic aortic aneurysm and aortic dissection
  • rs794728029Pathogenicsingle nucleotide variantAortic aneurysm, familial thoracic 6
  • rs886039303Pathogenicsingle nucleotide variantAortic aneurysm, familial thoracic 6|Familial aortopathy|Multisystemic smooth muscle dysfunction syndrome
  • rs397516683Uncertain significancesingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 6
  • rs794728019Uncertain significancesingle nucleotide variant
  • rs869025352Uncertain significancesingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection

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.