MRPS2 mitochondrial ribosomal protein S2

Information
Symbol
MRPS2
Type
protein-coding
Description
mitochondrial ribosomal protein S2
Entrez Gene ID
51116
Genome
hg19
Position
chr9:138,391,830-138,396,519
Genome
hg38
Position
chr9:135,499,984-135,504,673
MIM
611971 OMIM
HGNC
HGNC:14495 HGNC
Ensembl
ENSG00000122140 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 2
Benign 0 18
Likely benign 0 48
Conflicting classifications of pathogenicity 0 10
Uncertain significance 0 92
Ranking
ClinVar
0
0
34
126
0
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 CGI-91
SYNONYM COXPD36
SYNONYM MRP-S2
SYNONYM S2mt
SYNONYM uS2m
MIM 611971 OMIM
HGNC HGNC:14495 HGNC
Ensembl ENSG00000122140 Ensembl
AllianceGenome HGNC:14495
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000241600.10 hg38 chr9 135,500,682 135,504,671 3,990
ENST00000371785.5 hg38 chr9 135,499,984 135,504,673 4,690
ENST00000371785.5 hg19 chr9 138,391,830 138,396,519 4,690
ENST00000241600.10 hg19 chr9 138,392,528 138,396,517 3,990
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