View AARS2 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol AARS2
Gene name alanyl-tRNA synthetase 2, mitochondrial
Chromosome 6
Chromosomal band p21.1
Imprinted Unknown
Genomic reference NC_000006.11
Transcript reference NM_020745.3, XM_005249245.1, XR_241907.1
Associated with diseases COXPD8
Citation reference(s) -
Refseq URL Coding DNA reference sequence
Curators (3) Lishuang Shen, Xiaowu Gai and Marni J Falk
Total number of public variants reported 3
Unique public DNA variants reported 3
Individuals with public variants 0
Hidden variants 0
Notes MSeqDR-LSDB
Date created November 06, 2013
Date last updated November 13, 2013
Version AARS2:131113

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
HGNC 21022
Entrez Gene 57505
PubMed articles AARS2
OMIM - Gene 612035
OMIM - Diseases COXPD8 (COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8)
HGMD AARS2
GeneCards AARS2
GeneTests AARS2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000006 6 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 3
00000017 6 transcript variant X1 XM_005249245.1 XP_005249302.1 3
00000018 6 transcript variant X2 XR_241907.1 - 3


Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium