COL5A2 collagen type V alpha 2 chain

Information
Symbol
COL5A2
Type
protein-coding
Description
collagen type V alpha 2 chain
Entrez Gene ID
1290
Genome
hg19
Position
chr2:189,896,624-190,044,487
Genome
hg38
Position
chr2:189,031,898-189,179,761
MIM
120190 OMIM
HGNC
HGNC:2210 HGNC
Ensembl
ENSG00000204262 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 3 44
Likely pathogenic 1 52
Benign 40 454
Likely benign 0 1,550
Conflicting classifications of pathogenicity 0 364
not provided 0 4
Uncertain significance 1 1,238
Ranking
ClinVar
0
0
640
2,466
30
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 EDSC
SYNONYM EDSCL2
MIM 120190 OMIM
HGNC HGNC:2210 HGNC
Ensembl ENSG00000204262 Ensembl
AllianceGenome HGNC:2210
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000618828.1 hg38 chr2 189,031,915 189,179,879 147,965
ENST00000374866.9 hg38 chr2 189,031,898 189,179,761 147,864
ENST00000374866.9 hg19 chr2 189,896,624 190,044,487 147,864
ENST00000618828.1 hg19 chr2 189,896,641 190,044,605 147,965
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