ACTN2

This page contains an overview of the genetic variation in the ACTN2 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:

ACTN2 gene and transcript details

Gene Name
actinin, alpha 2

Gene Links
Ensembl: ENSG00000077522 - Locus Reference Genomic: LRG_436

Genomic Location
Chromosome 1 : 236,849,974 - 236,925,919 (forward strand)
View in: Ensembl - UCSC Genome Browser

Canonical Seqs	Transcript (2682 bases)	Protein (894 aa)
	ENST00000366578	ENSP00000355537
	LRG_436t1	LRG_436p1
	NM_001103.2
		P35609

Summary of ACTN2 in Cardiomyopathies

HCM - Hypertrophic Cardiomyopathy - explore in detail

Based on a detailed analysis of the role of ACTN2 in HCM (see study in the European Heart Journal), it is classified as: Moderate Evidence.

DCM - Dilated Cardiomyopathy - explore in detail

VarType	DCM Freq	ExAC Freq	Case Excess
All	0.00894	0.01086	-0.19%
Truncating	0.00000	0.00010	-0.01%
Non-Truncating	0.00894	0.01076	-0.18%

Based on an analysis of rare variants (MAF<0.0001) in ACTN2 detected in a cohort of 895 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

ACTN2 variants in ExAC

Details of the protein-altering ACTN2 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	367	0.00640
Truncating	3	0.00005
Missense	301	0.00533
Inframe	4	0.00005
Splice Site	59	0.00097

Rare variants are defined as having a mean allelic frequency of less than 0.0001.