COL9A2 collagen type IX alpha 2 chain

Information
Symbol
COL9A2
Type
protein-coding
Description
collagen type IX alpha 2 chain
Entrez Gene ID
1298
Genome
hg19
Position
chr1:40,766,161-40,782,958
Genome
hg38
Position
chr1:40,300,489-40,317,286
MIM
120260 OMIM
HGNC
HGNC:2218 HGNC
Ensembl
ENSG00000049089 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 54
Likely pathogenic 0 32
Benign 8 178
Likely benign 0 812
Conflicting classifications of pathogenicity 0 96
Uncertain significance 0 882
Ranking
ClinVar
0
0
342
1,570
8
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 DJ39G22.4
SYNONYM EDM2
SYNONYM MED
SYNONYM STL5
MIM 120260 OMIM
HGNC HGNC:2218 HGNC
Ensembl ENSG00000049089 Ensembl
AllianceGenome HGNC:2218
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000372748.8 hg38 chr1 40,300,489 40,317,286 16,798
ENST00000372748.8 hg19 chr1 40,766,161 40,782,958 16,798
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