MYL2 truncating variants in ExAC


The table below lists the MYL2 truncating variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord. Variant (CDS) Variant (Protein) Variant Type ExAC frequencyPopulations*
1. 111348980 c.403-1G>C essential splice site 0.00002482
2. 111356990 c.11_15delAGAAA p.K4Sfs*25 frameshift 0.00001679
3. 111348951 c.431delC frameshift 0.00001650
4. 111352100 c.170-6_170-2dupCCCTA essential splice site 0.00000831
5. 111356909 c.92_93+1delAGG essential splice site 0.00000831
6. 111352092 c.172C>T p.R58X nonsense 0.00000829
7. 111356954 c.47delA p.Asn16ThrfsTer34 frameshift 0.00000827
8. 111356937 c.64G>T p.E22X nonsense 0.00000827
9. 111351050 c.353_354insG p.Tyr118Ter frameshift 0.00000824
10. 111351130 c.275-2A>G essential splice site 0.00000824

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

Genomic coordinates refer to the GRCh37 release of the human genome.