Genomic variant #0001431200

Chromosome 15
DNA change (genomic) (Relative to hg19 / GRCh37) g.91448708del
Reference Copied from the Exome Variant Server
DB-ID MAN2A2_000012
Frequency 13/12502
Freq. EA 11/8244
Freq. AA 2/4258
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
MAN2A2 NM_006122.2 ?/? c.360del r.(?) p.(Gly122Alafs*130)