MARS2 methionyl-tRNA synthetase 2, mitochondrial

Information
Symbol
MARS2
Type
protein-coding
Description
methionyl-tRNA synthetase 2, mitochondrial
Entrez Gene ID
92935
Genome
hg19
Position
chr2:198,570,093-198,573,119
Genome
hg38
Position
chr2:197,705,369-197,708,395
MIM
609728 OMIM
HGNC
HGNC:25133 HGNC
Ensembl
ENSG00000247626 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely pathogenic 0 4
Benign 0 34
Likely benign 0 124
Conflicting classifications of pathogenicity 0 14
Uncertain significance 0 244
Ranking
ClinVar
0
0
88
302
8
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
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 COXPD25
SYNONYM MetRS
SYNONYM mtMetRS
MIM 609728 OMIM
HGNC HGNC:25133 HGNC
Ensembl ENSG00000247626 Ensembl
AllianceGenome HGNC:25133
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000282276.8 hg38 chr2 197,705,369 197,708,395 3,027
ENST00000282276.8 hg19 chr2 198,570,093 198,573,119 3,027
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