NSUN2
This page contains an overview of the genetic variation in the NSUN2 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:
NSUN2 gene and transcript details
Gene Name
NOP2/Sun RNA methyltransferase family, member 2
Gene Links
Ensembl: ENSG00000037474 -
Locus Reference Genomic:
Genomic Location
Chromosome 5 : 6,600,039 - 6,633,092 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (2301 bases) | Protein (767 aa) |
|---|---|---|
 |
ENST00000264670 | ENSP00000264670 |
 |
||
 |
NM_017755.5 | |
 |
Q08J23 |
Summary of NSUN2 in Cardiomyopathies
NSUN2 variants in ExAC
Details of the protein-altering NSUN2 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 | 353 | 0.00550 |
| Truncating | 22 | 0.00021 |
| Missense | 270 | 0.00429 |
| Inframe | 2 | 0.00002 |
| Splice Site | 59 | 0.00098 |