KCNQ2
This page contains an overview of the genetic variation in the KCNQ2 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:
KCNQ2 gene and transcript details
Gene Name
potassium voltage-gated channel, KQT-like subfamily, member 2
Gene Links
Ensembl: ENSG00000075043 -
Locus Reference Genomic:
Genomic Location
Chromosome 20 : 62,037,997 - 62,103,816 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (2616 bases) | Protein (872 aa) |
|---|---|---|
 |
ENST00000359125 | ENSP00000352035 |
 |
||
 |
NM_172107.2 | |
 |
O43526 |
Summary of KCNQ2 in Cardiomyopathies
KCNQ2 variants in ExAC
Details of the protein-altering KCNQ2 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 | 224 | 0.00358 |
| Truncating | 2 | 0.00002 |
| Missense | 175 | 0.00274 |
| Inframe | 2 | 0.00011 |
| Splice Site | 45 | 0.00077 |