HARS2 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol HARS2
Gene name histidyl-tRNA synthetase 2, mitochondrial
Chromosome 5
Chromosomal band q31.3
Imprinted Unknown
Genomic reference NC_000005.9
Transcript reference NM_001278731.1, NM_001278732.1, NM_012208.3, XM_005268409.1
Associated with diseases PRLTS2
Citation reference(s) -
Curators (0) -
Total number of public variants reported 10
Unique public DNA variants reported 9
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 07, 2013
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 4817
Entrez Gene 23438
PubMed articles HARS2
OMIM - Gene 600783
OMIM - Diseases PRLTS2 (PERRAULT SYNDROME 2)
HGMD HARS2
GeneCards HARS2
GeneTests HARS2


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00000149 5 transcript variant 3 NM_001278732.1 NP_001265661.1 10
00000150 5 transcript variant 1 NM_012208.3 NP_036340.1 10
00000151 5 transcript variant 2 NM_001278731.1 NP_001265660.1 10
00000152 5 transcript variant X1 XM_005268409.1 XP_005268466.1 10


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

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

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