All variants in the COL2A1 gene

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

1 entry on 1 page. Showing entry 1.
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     
?/. 7 c.434C>T r.(?) p.(Ala145Val) - VUS g.48391486G>A g.47997703G>A - - COL2A1_000262 - - - - Unknown - - - 0 - Isabelle Touitou
Legend   How to query