Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.44901646T>GCA120443ITGB2c.587A>C (p.Lys196Thr)
c.560A>C (p.Lys187Thr)
c.416A>C (p.Lys139Thr)
n.730A>C
n.468A>C
c.*414A>C (n.*414A>C)
c.380A>C (p.Lys127Thr)
ClinVar dbSNP
21g.44901646T>CCA410476283ITGB2c.587A>G (p.Lys196Arg)
c.560A>G (p.Lys187Arg)
c.416A>G (p.Lys139Arg)
n.730A>G
n.468A>G
c.*414A>G (n.*414A>G)
c.380A>G (p.Lys127Arg)
dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched