All variants in the COL2A1 gene

Information The variants shown are described using the NM_001844.4 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 10i c.709-2A>G r.spl p.? - pathogenic g.48389093T>C g.47995310T>C - - COL2A1_000270 - - - - Unknown - - - 0 - Isabelle Touitou
+/. 10i c.709-2A>G r.[709_762del, ..] p.? - pathogenic g.48389093T>C g.47995310T>C - - COL2A1_000270 Skipping of exon 11 and of exons 11 and 13 PubMed: Miyamoto 2005 - - Unknown - - - 0 - Isabelle Touitou
+/. 10i c.709-2A>G r.spl p.? - pathogenic g.48389093T>C g.47995310T>C - - COL2A1_000270 - - - - Unknown - - - 0 - Isabelle Touitou
Legend   How to query