Genomic variant #0001184802

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.21712628C>T
Reference Copied from the Exome Variant Server
DB-ID GYS2_000086
Frequency 1/12994
Freq. EA 0/8590
Freq. AA 1/4404
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
GYS2 NM_021957.3 ?/? c.1186G>A r.(?) p.(Val396Met)