ATP5MC2 ATP synthase membrane subunit c locus 2

Information
Symbol
ATP5MC2
Type
protein-coding
Description
ATP synthase membrane subunit c locus 2
Entrez Gene ID
517
Genome
hg19
Position
chr12:54,058,945-54,070,512
Genome
hg38
Position
chr12:53,665,161-53,676,728
MIM
603193 OMIM
HGNC
HGNC:842 HGNC
Ensembl
ENSG00000135390 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 22
Ranking
ClinVar
0
0
0
22
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 :
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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 ATP5A
SYNONYM ATP5G2
MIM 603193 OMIM
HGNC HGNC:842 HGNC
Ensembl ENSG00000135390 Ensembl
AllianceGenome HGNC:842
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000552242.5 hg38 chr12 53,665,171 53,677,408 12,238
ENST00000338662.6 hg38 chr12 53,665,202 53,677,398 12,197
ENST00000673498.1 hg38 chr12 53,665,161 53,676,728 11,568
ENST00000549164.5 hg38 chr12 53,665,183 53,676,398 11,216
ENST00000394349.9 hg38 chr12 53,665,170 53,676,083 10,914
ENST00000549748.2 hg38 chr12 53,665,239 53,676,082 10,844
ENST00000673498.1 hg19 chr12 54,058,945 54,070,512 11,568
ENST00000394349.9 hg19 chr12 54,058,954 54,069,867 10,914
ENST00000552242.5 hg19 chr12 54,058,955 54,071,192 12,238
ENST00000549164.5 hg19 chr12 54,058,967 54,070,182 11,216
ENST00000338662.6 hg19 chr12 54,058,986 54,071,182 12,197
ENST00000549748.2 hg19 chr12 54,059,023 54,069,866 10,844
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