Gene

CASQ2

calsequestrin 2

Cytogenetic location: 1p13.1
Coordinates: Chromosome 1: 115,700,021–115,768,714 (GRCh38)
Exons: 11 exons across 68.7 kb
Protein: 399 amino acids
Also known as: PDIB2
MANE Select transcript: ENST00000261448.6NM_001232.4
Locus type: gene with protein product

Very high
Confident
Low
Very low

Reference genomeGRCh38hg38

Positions on gene and variant pages follow this choice, in this browser.

Read CASQ2, and the rest of your genome, with one test.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test

Curated report relevant to this gene

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
  - 4 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
  - 4 GenCC submitters rate it definitive or strong
  - On the ACMG secondary findings list

How CASQ2 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 2.6 kb of the gene's 68.7 kb; 1,200 of those bases code for the protein.

How a genome test reads CASQ2

positions in CASQ2 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 68.7 kb of CASQ2, introns included, not only the 2.6 kb of exons.

Variants with a page (15)

The CASQ2 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
c.320-2A>G		Intron 2	115,740,830	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.381C>T		Exon 3	115,740,767	Likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.737+1G>A		Intron 6	115,726,991	Likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.939+1G>T		Intron 9	115,705,191	Likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.939+5G>C		Intron 9	115,705,187	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.940-1G>T		Intron 9	115,702,996	Likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
D340X	c.1017dup	Exon 11	115,701,423	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
F182Lfs*28	c.546del	Exon 5	115,732,960	Pathogenic/likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
P308L	c.923C>T	Exon 9	115,705,208	Likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
Q71Hfs*2	c.213del	Exon 1	115,768,328	Likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts

See all 15 CASQ2 variants →

Traits linked to CASQ2

The Human Phenotype Ontology lists these as features of the rare conditions CASQ2 can cause. Each trait's page lists the other genes linked to it.

Abnormality of the cardiovascular system

Show 6 more traits

Abnormality of the nervous system

Epilepsy

Constitutional symptom

Sudden death

External links

Gene records

Transcript

Protein

Variants

Clinical

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 2026-10-16: 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 Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). CASQ2 gene: calsequestrin 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/casq2

Vancouver

Dante Labs. CASQ2 gene: calsequestrin 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/casq2

One test. A lifetime of answers.