ACTA2
This page contains an overview of the genetic variation in the ACTA2 gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:
ACTA2 gene and transcript details
Gene Name
actin, alpha 2, smooth muscle, aorta
Gene Links
Ensembl: ENSG00000107796 -
Locus Reference Genomic:
Genomic Location
Chromosome 10 : 90,694,980 - 90,708,687 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (1131 bases) | Protein (377 aa) |
|---|---|---|
 |
ENST00000224784 | ENSP00000224784 |
 |
||
 |
NM_001613.2 | |
 |
P62736 |
Summary of ACTA2 in Cardiomyopathies
ACTA2 variants in ExAC
Details of the protein-altering ACTA2 variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.
| Total Variants | Combined frequency of rare variants | |
|---|---|---|
| All Variants | 72 | 0.00092 |
| Truncating | 5 | 0.00004 |
| Missense | 51 | 0.00068 |
| Inframe | 0 | 0.00000 |
| Splice Site | 16 | 0.00020 |