DARS2 aspartyl-tRNA synthetase 2, mitochondrial

Information
Symbol
DARS2
Type
protein-coding
Description
aspartyl-tRNA synthetase 2, mitochondrial
Entrez Gene ID
55157
Genome
hg19
Position
chr1:173,793,811-173,827,684
Genome
hg38
Position
chr1:173,824,673-173,858,546
MIM
610956 OMIM
HGNC
HGNC:25538 HGNC
Ensembl
ENSG00000117593 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 1 82
Likely pathogenic 0 52
Benign 0 104
Likely benign 0 248
Conflicting classifications of pathogenicity 0 38
Uncertain significance 0 270
Ranking
ClinVar
0
0
108
592
34
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM ASPRS
SYNONYM LBSL
SYNONYM MT-ASPRS
SYNONYM mtAspRS
MIM 610956 OMIM
HGNC HGNC:25538 HGNC
Ensembl ENSG00000117593 Ensembl
AllianceGenome HGNC:25538
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000649689.2 hg38 chr1 173,824,673 173,858,546 33,874
ENST00000648960.1 hg38 chr1 173,824,653 173,858,389 33,737
ENST00000647645.1 hg38 chr1 173,824,708 173,858,517 33,810
ENST00000648458.1 hg38 chr1 173,824,960 173,852,014 27,055
ENST00000649067.1 hg38 chr1 173,824,663 173,858,397 33,735
ENST00000648807.1 hg38 chr1 173,824,653 173,858,400 33,748
ENST00000648960.1 hg19 chr1 173,793,791 173,827,527 33,737
ENST00000648807.1 hg19 chr1 173,793,791 173,827,538 33,748
ENST00000649067.1 hg19 chr1 173,793,801 173,827,535 33,735
ENST00000649689.2 hg19 chr1 173,793,811 173,827,684 33,874
ENST00000647645.1 hg19 chr1 173,793,846 173,827,655 33,810
ENST00000648458.1 hg19 chr1 173,794,098 173,821,152 27,055
Genome browser