AARS2 alanyl-tRNA synthetase 2, mitochondrial

Information
Symbol
AARS2
Type
protein-coding
Description
alanyl-tRNA synthetase 2, mitochondrial
Entrez Gene ID
57505
Genome
hg19
Position
chr6:44,266,468-44,281,084
Genome
hg38
Position
chr6:44,298,731-44,313,347
MIM
612035 OMIM
HGNC
HGNC:21022 HGNC
Ensembl
ENSG00000124608 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 56
Likely pathogenic 0 54
Benign 0 152
Likely benign 0 318
Conflicting classifications of pathogenicity 0 88
other 2 0
Uncertain significance 0 468
Ranking
ClinVar
0
0
192
808
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 AARSL
SYNONYM COXPD8
SYNONYM LKENP
SYNONYM MT-ALARS
SYNONYM MTALARS
MIM 612035 OMIM
HGNC HGNC:21022 HGNC
Ensembl ENSG00000124608 Ensembl
AllianceGenome HGNC:21022
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000244571.5 hg38 chr6 44,298,731 44,313,347 14,617
ENST00000244571.5 hg19 chr6 44,266,468 44,281,084 14,617
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