Genomic variant #0000218851

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.30987041G>C
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000146
Frequency 53/12618
Freq. EA 47/8434
Freq. AA 6/4184
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.656C>G r.(?) p.(Ala219Gly)