AtlasGene
RYR2
ryanodine receptor 2
- HGNC 10484↗(opens in a new tab)
- Ensembl gene ENSG00000198626↗(opens in a new tab)
- NCBI Gene 6262↗(opens in a new tab)
Summary
- Cytogenetic location
- 1q43
- Coordinates
- Chromosome 1: 237,042,184–237,833,988 (GRCh38)
- Exons
- 105 exons across 791.8 kb
- Protein
- 4,967 amino acids
- Also known as
- ARVC2, VTSIP
- Previous symbols
- ARVD2
- MANE Select transcript
- ENST00000366574.7NM_001035.3
- Locus type
- Protein-coding
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Arrhythmogenic Cardiomyopathy
- Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
Progressive replacement of heart muscle by fat and scar tissue, mainly in the right ventricle, causing ventricular arrhythmias; usually caused by variants in the desmosome genes PKP2, DSP, DSG2, DSC2 and JUP, or in TMEM43, PLN or DES.
- 3 GenCC submitters rate it definitive or strong
- On the ACMG secondary findings list
▶Actionability
A diagnosis supports regular rhythm monitoring, advice on limiting endurance exercise, decisions about implantable defibrillators and testing of relatives.
Catecholaminergic Polymorphic Ventricular Tachycardia
- Ventricular Tachycardia, Familial
An instance of ventricular tachycardia that is caused by an inherited modification of the individual's genome.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
- On the ACMG secondary findings list
- Polymorphic Ventricular Tachycardia
A ventricular tachycardia that is irregular in rate and rhythm.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
- On the ACMG secondary findings list
How RYR2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
- Variants with a page
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 16.6 kb of the gene's 791.8 kb; 14,904 of those bases code for the protein.
Sequencing RYR2
1Easy
How hard RYR2 is to sequence with short reads, out of 100
0 · Easy100 · Hard
Almost all of RYR2's exons sit where short reads map cleanly.
What adds to it: the share of RYR2's exons in each kind of hard region
- MappabilityStretches where 100 or 250 bp reads cannot be placed uniquely, so a call there may be missing or wrong. Weight 35%.0%
- HomologySegmental duplications: copies elsewhere in the genome, such as paralogues and pseudogenes, at 90% identity or more. Weight 30%.0%
- RepeatsTandem repeats and runs of one base, which reads slip on and may not span. Weight 15%.1.7%
- GC contentWindows under 25% or over 65% G and C, which library preparation covers thinly. Weight 10%.3.4%
- Reference coverageGaps in the reference assembly nearby, where there is no sequence for reads to align to. Weight 10%.0%
A Dante Labs score from our own research, built on NIST's Genome in a Bottle maps of hard-to-sequence regions.How it's scoredEach bar is the share of RYR2's exon bases in that kind of difficult region. The score weighs them by how much each costs a short-read call: 0 when no base is in any, 100 when every base is in all of them.
214
positions in RYR2 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 791.8 kb of RYR2, introns included, not only the 16.6 kb of exons.
Variants with a page (24)
The RYR2 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A2387T | c.7159G>A | Exon 47 | 237,640,940 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A2387V | c.7160C>T | Exon 47 | 237,640,941 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A4091V | c.12272C>T | Exon 90 | 237,783,984 | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A4510T | c.13528G>A | Exon 93 | 237,791,480 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D3291V | c.9872A>T | Exon 68 | 237,707,240 | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D4112N | c.12334G>A | Exon 90 | 237,784,046 | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F4851L | c.14553C>A | Exon 101 | 237,819,155 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G357S | c.1069G>A | Exon 13 | 237,441,382 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I4926T | c.14777T>C | Exon 104 | 237,831,534 | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L4105F | c.12313C>T | Exon 90 | 237,784,025 | Likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
ClinVar pathogenic variants (235)
The RYR2 variants ClinVar classifies pathogenic or likely pathogenic for any condition, reviewed by at least one submitter with criteria, and the most reviewed of them. It is ClinVar's public record of the gene, never a result.
- Pathogenic 102
- Pathogenic/likely pathogenic 10
- Likely pathogenic 123
| Variant | Conditions | ClinVar classification | Review status |
|---|---|---|---|
| NM_001035.3(RYR2):c.506G>A (p.Arg169Gln) | catecholaminergic polymorphic ventricular tachycardia and 1 other | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001035.3(RYR2):c.527G>A (p.Arg176Gln) | catecholaminergic polymorphic ventricular tachycardia 1 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser) | cardiomyopathy and 1 other | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) | cardiomyopathy and 3 others | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln) | catecholaminergic polymorphic ventricular tachycardia 1 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001035.3(RYR2):c.7159G>A (p.Ala2387Thr) | catecholaminergic polymorphic ventricular tachycardia and 1 other | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val) | catecholaminergic polymorphic ventricular tachycardia 1 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001035.3(RYR2):c.7175A>G (p.Tyr2392Cys) | catecholaminergic polymorphic ventricular tachycardia 1 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001035.3(RYR2):c.12533A>G (p.Asn4178Ser) | catecholaminergic polymorphic ventricular tachycardia 1 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr) | catecholaminergic polymorphic ventricular tachycardia 1 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001035.3(RYR2):c.14311G>A (p.Val4771Ile) | catecholaminergic polymorphic ventricular tachycardia 1 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001035.3(RYR2):c.14553C>A (p.Phe4851Leu) | catecholaminergic polymorphic ventricular tachycardia 1 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001035.3(RYR2):c.344A>G (p.Tyr115Cys) | catecholaminergic polymorphic ventricular tachycardia 1 | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys) | catecholaminergic polymorphic ventricular tachycardia 1 | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001035.3(RYR2):c.7202G>A (p.Arg2401His) | catecholaminergic polymorphic ventricular tachycardia 1 | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001035.3(RYR2):c.9872A>T (p.Asp3291Val) | catecholaminergic polymorphic ventricular tachycardia 1 | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001035.3(RYR2):c.12272C>T (p.Ala4091Val) | catecholaminergic polymorphic ventricular tachycardia 1 | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001035.3(RYR2):c.12334G>A (p.Asp4112Asn) | catecholaminergic polymorphic ventricular tachycardia 1 | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001035.3(RYR2):c.12446A>G (p.Tyr4149Cys) | catecholaminergic polymorphic ventricular tachycardia 1 | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001035.3(RYR2):c.13823G>A (p.Arg4608Gln) | catecholaminergic polymorphic ventricular tachycardia 1 | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001035.3(RYR2):c.14777T>C (p.Ile4926Thr) | catecholaminergic polymorphic ventricular tachycardia 1 | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) | catecholaminergic polymorphic ventricular tachycardia 1 | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001035.3(RYR2):c.11623G>T (p.Val3875Leu) | catecholaminergic polymorphic ventricular tachycardia 1 and 1 other | Likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001035.3(RYR2):c.12313C>T (p.Leu4105Phe) | catecholaminergic polymorphic ventricular tachycardia 1 | Likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001035.3(RYR2):c.37T>C (p.Phe13Leu) (opens in a new tab) | catecholaminergic polymorphic ventricular tachycardia and 1 other | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
See all 235 with every other RYR2 variant in ClinVar → (opens in a new tab)
Genes linked to the same conditions
- CALM1calmodulin 1Shares 2 conditions
- CALM2calmodulin 2Shares 2 conditions
- CALM3calmodulin 3Shares 2 conditions
- CASQ2calsequestrin 2Shares 2 conditions
- TECRLtrans-2,3-enoyl-CoA reductase likeShares 2 conditions
- TRDNtriadinShares 2 conditions
- CDH2cadherin 2Shares 1 condition
- DESdesminShares 1 condition
- DSC2desmocollin 2Shares 1 condition
- DSG2desmoglein 2Shares 1 condition
- DSPdesmoplakinShares 1 condition
- JUPjunction plakoglobinShares 1 condition
Traits linked to RYR2
The Human Phenotype Ontology lists these as features of the rare conditions RYR2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the cardiovascular system
- Bidirectional ventricular tachycardia
- Effort-induced polymorphic ventricular tachycardia
- Fainting spell
- Atrial standstill
- Paroxysmal atrial fibrillation
- Reduced systolic function
- Stretched and thinned heart muscle
- Sudden cardiac death
Show 9 more traits
- Interruption of electrical communication between upper and lower chambers of heart
- Sick sinus syndrome
- Ventricular couplet
- Left ventricular noncompaction cardiomyopathy
- Torsade de pointes
- Aborted sudden cardiac death
- Polymorphic and polytopic ventricular extrasystoles
- Ventricular fibrillation
- Ventricular tachycardia
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-17: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.18-e609d43e.
Cite this page
Dante Labs. (n.d.). RYR2 gene: ryanodine receptor 2. Retrieved 18 October 2026, from https://dantelabs.com/genes/ryr2
Dante Labs. RYR2 gene: ryanodine receptor 2 [Internet]. [cited 18 October 2026]. Available from: https://dantelabs.com/genes/ryr2
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