Gene entry
ACTG2
actin gamma 2, smooth muscle
- Chromosome
- 2
- Cytoband
- 2p13.1
- Variants (rsID)
- 14
ACTG2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2p13.1). Its official name is “actin gamma 2, smooth muscle”. The reference table lists 14 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs768290597Pathogenicsingle nucleotide variantVisceral myopathy
- rs78001248Pathogenicsingle nucleotide variantVisceral myopathy|Megacystis-microcolon-intestinal hypoperistalsis syndrome 5
- rs797044959Pathogenicsingle nucleotide variantInborn genetic diseases|Megacystis|Chronic intestinal pseudoobstruction|Visceral myopathy|Megacystis-microcolon-intestinal hypoperistalsis syndrome 5
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.