SOD2 superoxide dismutase 2

Information
Symbol
SOD2
Type
protein-coding
Description
superoxide dismutase 2
Entrez Gene ID
6648
Genome
hg19
Position
chr6:160,090,101-160,114,273
Genome
hg38
Position
chr6:159,669,069-159,693,241
MIM
147460 OMIM
HGNC
HGNC:11180 HGNC
Ensembl
ENSG00000291237 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 1 0
Benign 0 4
Likely benign 0 4
Conflicting classifications of pathogenicity; risk factor 0 2
Uncertain significance 0 46
Ranking
ClinVar
0
0
2
48
4
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 GC1
SYNONYM GClnc1
SYNONYM IPO-B
SYNONYM IPOB
SYNONYM MNSOD
SYNONYM MVCD6
SYNONYM Mn-SOD
MIM 147460 OMIM
HGNC HGNC:11180 HGNC
Ensembl ENSG00000291237 Ensembl
AllianceGenome HGNC:11180
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000337404.8 hg38 chr6 159,682,165 159,693,278 11,114
ENST00000367055.8 hg38 chr6 159,679,064 159,693,234 14,171
ENST00000367054.6 hg38 chr6 159,679,116 159,693,228 14,113
ENST00000444946.6 hg38 chr6 159,682,139 159,693,241 11,103
ENST00000538183.7 hg38 chr6 159,669,069 159,693,241 24,173
ENST00000452684.2 hg38 chr6 159,690,919 159,693,244 2,326
ENST00000546087.5 hg38 chr6 159,679,119 159,762,529 83,411
ENST00000538183.7 hg19 chr6 160,090,101 160,114,273 24,173
ENST00000367055.8 hg19 chr6 160,100,096 160,114,266 14,171
ENST00000367054.6 hg19 chr6 160,100,148 160,114,260 14,113
ENST00000546087.5 hg19 chr6 160,100,151 160,183,561 83,411
ENST00000444946.6 hg19 chr6 160,103,171 160,114,273 11,103
ENST00000337404.8 hg19 chr6 160,103,197 160,114,310 11,114
ENST00000452684.2 hg19 chr6 160,111,951 160,114,276 2,326
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