The AARS2 gene homepage

General information
Gene symbol AARS2
Gene name alanyl-tRNA synthetase 2, mitochondrial
Chromosome 6
Chromosomal band p21.1
Imprinted Unknown
Genomic reference NG_031952.1
Transcript reference NM_020745.3, XM_005249245.1
Associated with diseases COXPD-8, ID, leukoencephalopathy, progressive, with ovarian failure
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 311
Unique public DNA variants reported 29
Individuals with public variants 35
Hidden variants 24
Date created November 30, -0001
Date last updated September 28, 2016
Version AARS2:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:21022
Entrez Gene 57505
PubMed articles AARS2
OMIM - Gene 612035
OMIM - Diseases COXPD-8 (combined oxidative phosphorylation deficiency, type 8 (COXPD-8))
leukoencephalopathy, progressive, with ovarian failure


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00009773 6 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 311
00045835 6 transcript variant X1 XM_005249245.1 XP_005249302.1 -