CACNB2
This page contains an overview of the genetic variation in the CACNB2 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:
CACNB2 gene and transcript details
Gene Name
calcium channel, voltage-dependent, beta 2 subunit
Gene Links
Ensembl: ENSG00000165995 -
Locus Reference Genomic: LRG_381
Genomic Location
Chromosome 10 : 18,629,856 - 18,828,653 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (1818 bases) | Protein (606 aa) |
|---|---|---|
 |
ENST00000377329 | ENSP00000366546 |
 |
LRG_381t2 | LRG_381p2 |
 |
NM_201590.2 | |
 |
Summary of CACNB2 in Cardiomyopathies
CACNB2 variants in ExAC
Details of the protein-altering CACNB2 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 | 273 | 0.00477 |
| Truncating | 12 | 0.00012 |
| Missense | 229 | 0.00405 |
| Inframe | 1 | 0.00002 |
| Splice Site | 31 | 0.00057 |