MRPL2 mitochondrial ribosomal protein L2

Information
Symbol
MRPL2
Type
protein-coding
Description
mitochondrial ribosomal protein L2
Entrez Gene ID
51069
Genome
hg19
Position
chr6:43,021,767-43,027,172
Genome
hg38
Position
chr6:43,054,029-43,059,434
MIM
611822 OMIM
HGNC
HGNC:14056 HGNC
Ensembl
ENSG00000112651 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
Uncertain significance 0 36
Ranking
ClinVar
0
0
0
40
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-22
SYNONYM MRP-L14
SYNONYM RPML14
SYNONYM uL2m
MIM 611822 OMIM
HGNC HGNC:14056 HGNC
Ensembl ENSG00000112651 Ensembl
AllianceGenome HGNC:14056
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000388752.8 hg38 chr6 43,054,029 43,059,434 5,406
ENST00000487429.1 hg38 chr6 43,057,571 43,059,421 1,851
ENST00000230413.9 hg38 chr6 43,054,232 43,059,394 5,163
ENST00000468957.1 hg38 chr6 43,057,698 43,059,438 1,741
ENST00000489623.1 hg38 chr6 43,054,235 43,059,434 5,200
ENST00000388752.8 hg19 chr6 43,021,767 43,027,172 5,406
ENST00000230413.9 hg19 chr6 43,021,970 43,027,132 5,163
ENST00000489623.1 hg19 chr6 43,021,973 43,027,172 5,200
ENST00000487429.1 hg19 chr6 43,025,309 43,027,159 1,851
ENST00000468957.1 hg19 chr6 43,025,436 43,027,176 1,741
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