Genomic variant #0001184808

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.21713359A>G
Reference Copied from the Exome Variant Server
DB-ID GYS2_000093
Frequency 1/13006
Freq. EA 0/8600
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.1130T>C r.(?) p.(Val377Ala)