Genomic variant #0001184845

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.21728797T>C
Reference Copied from the Exome Variant Server
DB-ID GYS2_000129
Frequency 1/13004
Freq. EA 0/8598
Freq. AA 1/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
GYS2 NM_021957.3 ?/? c.495+3A>G r.spl? p.?