ATP2A2
This page contains an overview of the genetic variation in the ATP2A2 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:
ATP2A2 gene and transcript details
Gene Name
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
Gene Links
Ensembl: ENSG00000174437 -
Locus Reference Genomic:
Genomic Location
Chromosome 12 : 110,719,595 - 110,788,110 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (2991 bases) | Protein (997 aa) |
|---|---|---|
 |
ENST00000308664 | ENSP00000311186 |
 |
||
 |
NM_001681.3 | |
 |
Summary of ATP2A2 in Cardiomyopathies
ATP2A2 variants in ExAC
Details of the protein-altering ATP2A2 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 | 189 | 0.00256 |
| Truncating | 4 | 0.00003 |
| Missense | 140 | 0.00198 |
| Inframe | 2 | 0.00002 |
| Splice Site | 43 | 0.00053 |