VARS2 valyl-tRNA synthetase 2, mitochondrial

Information
Symbol
VARS2
Type
protein-coding
Description
valyl-tRNA synthetase 2, mitochondrial
Entrez Gene ID
57176
Genome
hg19
Position
chr6:30,881,982-30,894,236
Genome
hg38
Position
chr6:30,914,205-30,926,459
MIM
612802 OMIM
HGNC
HGNC:21642 HGNC
Ensembl
ENSG00000137411 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 34
Likely pathogenic 0 42
Benign 0 178
Likely benign 0 294
Conflicting classifications of pathogenicity 0 32
not provided 11 0
Uncertain significance 0 384
Ranking
ClinVar
0
0
202
676
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 COXPD20
SYNONYM VALRS
SYNONYM VARS2L
SYNONYM VARSL
MIM 612802 OMIM
HGNC HGNC:21642 HGNC
Ensembl ENSG00000137411 Ensembl
AllianceGenome HGNC:21642
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000541562.6 hg38 chr6 30,914,331 30,926,413 12,083
ENST00000672801.1 hg38 chr6 30,914,205 30,926,456 12,252
ENST00000625423.2 hg38 chr6 30,914,220 30,926,456 12,237
ENST00000676266.1 hg38 chr6 30,914,238 30,926,459 12,222
ENST00000321897.9 hg38 chr6 30,914,205 30,926,459 12,255
ENST00000672801.1 hg19 chr6 30,881,982 30,894,233 12,252
ENST00000321897.9 hg19 chr6 30,881,982 30,894,236 12,255
ENST00000625423.2 hg19 chr6 30,881,997 30,894,233 12,237
ENST00000676266.1 hg19 chr6 30,882,015 30,894,236 12,222
ENST00000541562.6 hg19 chr6 30,882,108 30,894,190 12,083
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