Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.27463317G>ACA174241544CHRNA2c.1126C>T (p.Arg376Trp)
c.1081C>T (p.Arg361Trp)
n.290-1563C>T
c.1060C>T (p.Arg354Trp)
c.*528C>T (n.*528C>T)
c.649C>T (p.Arg217Trp)
c.532C>T (p.Arg178Trp)
ClinVar dbSNP gnomAD v2 gnomAD v4
8g.27463317G>CCA370809419CHRNA2c.1126C>G (p.Arg376Gly)
c.1081C>G (p.Arg361Gly)
n.290-1563C>G
c.1060C>G (p.Arg354Gly)
c.*528C>G (n.*528C>G)
c.649C>G (p.Arg217Gly)
c.532C>G (p.Arg178Gly)
dbSNP
8g.27463317G>TCA460186463CHRNA2c.1126C>A (p.Arg376=)
c.1081C>A (p.Arg361=)
n.290-1563C>A
c.1060C>A (p.Arg354=)
c.*528C>A (n.*528C>A)
c.649C>A (p.Arg217=)
c.532C>A (p.Arg178=)
dbSNP gnomAD v4
8g.27463317G=CA1772813878CHRNA2c.1126C= (p.Arg376=)
c.1081C= (p.Arg361=)
n.290-1563C=
c.1060C= (p.Arg354=)
c.*528C= (n.*528C=)
c.649C= (p.Arg217=)
c.532C= (p.Arg178=)
dbSNP

Number of alleles fetched