MYL2

This page contains an overview of the genetic variation in the MYL2 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:

MYL2 gene and transcript details

Gene Name
myosin, light chain 2, regulatory, cardiac, slow

Gene Links
Ensembl: ENSG00000111245 - Locus Reference Genomic: LRG_393

Genomic Location
Chromosome 12 : 111,348,881 - 111,358,333 (reverse strand)
View in: Ensembl - UCSC Genome Browser

Canonical Seqs	Transcript (498 bases)	Protein (166 aa)
	ENST00000228841	ENSP00000228841
	LRG_393t1	LRG_393p1
	NM_000432.3
		P10916

Summary of MYL2 in Cardiomyopathies

HCM - Hypertrophic Cardiomyopathy - explore in detail

VarType	HCM Freq	ExAC Freq	Case Excess
All	0.01099	0.00176	0.92%
Truncating	0.00072	0.00024	0.05%
Non-Truncating	0.01027	0.00154	0.87%

Based on an analysis of rare variants (MAF<0.0001) in MYL2 detected in a cohort of 4185 HCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

DCM - Dilated Cardiomyopathy - explore in detail

VarType	DCM Freq	ExAC Freq	Case Excess
All	0.00184	0.00176	0.01%
Truncating	0.00000	0.00024	-0.02%
Non-Truncating	0.00184	0.00154	0.03%

Based on an analysis of rare variants (MAF<0.0001) in MYL2 detected in a cohort of 543 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

MYL2 variants in ExAC

Details of the protein-altering MYL2 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	80	0.00120
Truncating	10	0.00012
Missense	50	0.00077
Inframe	0	0.00000
Splice Site	20	0.00032

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