View RYR2 gene homepage

General information
Gene symbol RYR2
Gene name ryanodine receptor 2 (cardiac)
Chromosome 1
Chromosomal band q43
Imprinted Unknown
Genomic reference NG_008799.2
Transcript reference NM_001035.2
Exon/intron information NM_001035.2
Associated with diseases ARVD-2, CPVT-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 230
Unique public DNA variants reported 155
Individuals with public variants 227
Hidden variants 0
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated April 21, 2017
Version RYR2:170421

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 10484
Entrez Gene 6262
PubMed articles RYR2
OMIM - Gene 180902
OMIM - Diseases ARVD-2 (ARVC-2)
CPVT-1 (tachycardia, ventricular, catecholaminergic polymorphic, type 1 (CPVT-1))
GeneCards RYR2
GeneTests RYR2

Active transcripts




NCBI ID     

NCBI Protein ID     

00018334 1 ryanodine receptor 2 (cardiac) NM_001035.2 NP_001026.2 230

Copyright & disclaimer
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