The CASQ2 gene homepage

General information
Gene symbol CASQ2
Gene name calsequestrin 2 (cardiac muscle)
Chromosome 1
Chromosomal band p13.1
Imprinted Unknown
Genomic reference LRG_404
Transcript reference NM_001232.3
Exon/intron information NM_001232.3 exon/intron table
Associated with diseases CPVT1, CPVT2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 209
Unique public DNA variants reported 134
Individuals with public variants 183
Hidden variants 5
Date created May 03, 2013
Date last updated November 01, 2022
Version CASQ2:221101

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001232.3.
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 http://www.LOVD.nl/CASQ2
HGNC 1513
Entrez Gene 845
PubMed articles CASQ2
OMIM - Gene 114251
OMIM - Diseases CPVT1 (tachycardia, ventricular, catecholaminergic polymorphic, type 1 (CPVT-1))
CPVT2 (tachycardia, ventricular, catecholaminergic polymorphic, type 2)
HGMD CASQ2
GeneCards CASQ2
GeneTests CASQ2
Orphanet CASQ2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00004392 1 calsequestrin 2 (cardiac muscle) NM_001232.3 NP_001223.2 209


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