CACNA2D1
This page contains an overview of the genetic variation in the CACNA2D1 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:
CACNA2D1 gene and transcript details
Gene Name
calcium channel, voltage-dependent, alpha 2/delta subunit 1
Gene Links
Ensembl: ENSG00000153956 -
Locus Reference Genomic: LRG_437
Genomic Location
Chromosome 7 : 81,579,708 - 82,072,775 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (3273 bases) | Protein (1091 aa) |
|---|---|---|
 |
ENST00000356860 | ENSP00000349320 |
 |
LRG_437t1 | LRG_437p1 |
 |
NM_000722.2 | |
 |
Summary of CACNA2D1 in Cardiomyopathies
CACNA2D1 variants in ExAC
Details of the protein-altering CACNA2D1 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 | 287 | 0.00438 |
| Truncating | 7 | 0.00007 |
| Missense | 201 | 0.00337 |
| Inframe | 1 | 0.00001 |
| Splice Site | 78 | 0.00093 |