ACVR2B
This page contains an overview of the genetic variation in the ACVR2B 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:
ACVR2B gene and transcript details
Gene Name
activin A receptor, type IIB
Gene Links
Ensembl: ENSG00000114739 -
Locus Reference Genomic:
Genomic Location
Chromosome 3 : 38,495,814 - 38,524,823 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (1536 bases) | Protein (512 aa) |
|---|---|---|
 |
ENST00000352511 | ENSP00000340361 |
 |
||
 |
NM_001106.3 | |
 |
Q13705 |
Summary of ACVR2B in Cardiomyopathies
ACVR2B variants in ExAC
Details of the protein-altering ACVR2B 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 | 145 | 0.00230 |
| Truncating | 1 | 0.00001 |
| Missense | 115 | 0.00188 |
| Inframe | 2 | 0.00003 |
| Splice Site | 27 | 0.00038 |