View genomic variant #0000000122

Chromosome 2
Allele Unknown
Affects function (reported) Effect unknown
Affects function (concluded) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.189922152C>A
Reference -
DB-ID COL5A2_000001
Frequency -
Average frequency (large NGS studies) Retrieve
Owner Florian Bayersdorfer




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL5A2 NM_000393.3 ./+? 34 c.2231G>T r.(?) p.(Gly744Val)