All variants in the COL2A1 gene

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

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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     
-/. - c.147G>A r.(?) p.(Pro49=) - benign g.48393847C>T g.48000064C>T COL2A1(NM_001844.4):c.147G>A (p.P49=) - COL2A1_000655 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
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