YARS2 tyrosyl-tRNA synthetase 2

Information
Symbol
YARS2
Type
protein-coding
Description
tyrosyl-tRNA synthetase 2
Entrez Gene ID
51067
Genome
hg19
Position
chr12:32,899,478-32,908,831
Genome
hg38
Position
chr12:32,746,544-32,755,897
MIM
610957 OMIM
HGNC
HGNC:24249 HGNC
Ensembl
ENSG00000139131 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 40
Likely pathogenic 1 24
Benign 0 36
Likely benign 0 194
Conflicting classifications of pathogenicity 0 46
Uncertain significance 0 196
Ranking
ClinVar
0
0
82
376
10
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 CGI-04
SYNONYM MLASA2
SYNONYM MT-TYRRS
SYNONYM TYRRS
MIM 610957 OMIM
HGNC HGNC:24249 HGNC
Ensembl ENSG00000139131 Ensembl
AllianceGenome HGNC:24249
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000324868.13 hg38 chr12 32,746,544 32,755,897 9,354
ENST00000324868.13 hg19 chr12 32,899,478 32,908,831 9,354
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