EARS2 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol EARS2
Gene name glutamyl-tRNA synthetase 2, mitochondrial
Chromosome 16
Chromosomal band p12.3
Imprinted Unknown
Genomic reference NC_000016.9
Transcript reference NM_001083614.1, NR_003501.1
Associated with diseases 614924
Citation reference(s) -
Curators (0) -
Total number of public variants reported 71
Unique public DNA variants reported 64
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 29419
Entrez Gene 124454
PubMed articles EARS2
OMIM - Gene 612799
OMIM - Diseases 614924 (Combined oxidative phosphorylation deficiency 12, 614924 (3))
HGMD EARS2
GeneCards EARS2
GeneTests EARS2


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00000112 16 glutamyl-tRNA synthetase 2, mitochondrial (putative), transcript variant 2 NR_003501.1 - 71
00000113 16 glutamyl-tRNA synthetase 2, mitochondrial (putative), transcript variant 1 NM_001083614.1 NP_001077083.1 71


Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

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