IARS2 isoleucyl-tRNA synthetase 2, mitochondrial

Information
Symbol
IARS2
Type
protein-coding
Description
isoleucyl-tRNA synthetase 2, mitochondrial
Entrez Gene ID
55699
Genome
hg19
Position
chr1:220,267,474-220,321,383
Genome
hg38
Position
chr1:220,094,132-220,148,041
MIM
612801 OMIM
HGNC
HGNC:29685 HGNC
Ensembl
ENSG00000067704 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 3 24
Likely pathogenic 0 14
Benign 0 130
Likely benign 0 404
Conflicting classifications of pathogenicity 0 18
not provided 1 0
Uncertain significance 0 378
Ranking
ClinVar
0
0
138
772
14
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 CAGSSS
SYNONYM ILERS
MIM 612801 OMIM
HGNC HGNC:29685 HGNC
Ensembl ENSG00000067704 Ensembl
AllianceGenome HGNC:29685
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000366922.3 hg38 chr1 220,094,132 220,148,041 53,910
ENST00000366922.3 hg19 chr1 220,267,474 220,321,383 53,910
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