MAP2K2
This page contains an overview of the genetic variation in the MAP2K2 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:
MAP2K2 gene and transcript details
Gene Name
mitogen-activated protein kinase kinase 2
Gene Links
Ensembl: ENSG00000126934 -
Locus Reference Genomic:
Genomic Location
Chromosome 19 : 4,090,596 - 4,123,872 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (1200 bases) | Protein (400 aa) |
|---|---|---|
 |
ENST00000262948 | ENSP00000262948 |
 |
||
 |
NM_030662.3 | |
 |
P36507 |
Summary of MAP2K2 in Cardiomyopathies
MAP2K2 variants in ExAC
Details of the protein-altering MAP2K2 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 | 151 | 0.00330 |
| Truncating | 2 | 0.00003 |
| Missense | 110 | 0.00235 |
| Inframe | 2 | 0.00011 |
| Splice Site | 37 | 0.00085 |