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
Exon/intron information NM_020745.3 exon/intron table
Associated with diseases COXPD-8, ID, leukoencephalopathy, progressive, with ovarian failure
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 17
Unique public DNA variants reported 15
Individuals with public variants 16
Hidden variants 15
Date created May 03, 2013
Date last updated April 28, 2017
Version AARS2:170428

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_020745.3.
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
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




NCBI ID     

NCBI Protein ID     

00024230 6 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 17

Copyright & disclaimer
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