RYR2
This page contains an overview of the genetic variation in the RYR2 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:
RYR2 gene and transcript details
Gene Name
ryanodine receptor 2 (cardiac)
Gene Links
Ensembl: ENSG00000198626 -
Locus Reference Genomic: LRG_402
Genomic Location
Chromosome 1 : 237,205,822 - 237,995,947 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (14901 bases) | Protein (4967 aa) |
|---|---|---|
 |
ENST00000366574 | ENSP00000355533 |
 |
LRG_402t1 | LRG_402p1 |
 |
NM_001035.2 | |
 |
Q92736 |
Summary of RYR2 in Cardiomyopathies
DCM - Dilated Cardiomyopathy - explore in detail| VarType | DCM Freq | ExAC Freq | Case Excess |
|---|---|---|---|
| All | 0.04959 | 0.03484 | 1.48% |
| Truncating | 0.00000 | 0.00114 | -0.11% |
| Non-Truncating | 0.04959 | 0.03370 | 1.59% |
RYR2 variants in ExAC
Details of the protein-altering RYR2 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 | 1341 | 0.02048 |
| Truncating | 40 | 0.00057 |
| Missense | 1092 | 0.01670 |
| Inframe | 5 | 0.00017 |
| Splice Site | 204 | 0.00308 |