ANK2
This page contains an overview of the genetic variation in the ANK2 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:
ANK2 gene and transcript details
Gene Name
ankyrin 2, neuronal
Gene Links
Ensembl: ENSG00000145362 -
Locus Reference Genomic: LRG_327
Genomic Location
Chromosome 4 : 113,970,885 - 114,302,627 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (11772 bases) | Protein (3924 aa) |
|---|---|---|
 |
ENST00000264366 | ENSP00000264366 |
 |
LRG_327t1 | LRG_327p1 |
 |
||
 |
I6L894 |
Summary of ANK2 in Cardiomyopathies
ANK2 variants in ExAC
Details of the protein-altering ANK2 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 | 1251 | 0.01905 |
| Truncating | 15 | 0.00013 |
| Missense | 1147 | 0.01732 |
| Inframe | 8 | 0.00019 |
| Splice Site | 81 | 0.00141 |