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, LKENP
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 93
Unique public DNA variants reported 90
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
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)
LKENP (LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE)
HGMD AARS2
GeneCards AARS2
GeneTests AARS2


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00000017 6 transcript variant X1 XM_005249245.1 XP_005249302.1 93
00000018 6 transcript variant X2 XR_241907.1 - 93
00000006 6 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 92


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

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

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