Canonical Allele Identifier: CA376596619
Community Standard Title: NM_001330074.2(WASHC2C):c.721G>A (p.Glu241Lys)
Gene: WASHC2C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.45746636G>A , CM000672.2:g.45746636G>A GRCh38
NC_000010.10:g.46242084G>A , CM000672.1:g.46242084G>A GRCh37
NC_000010.9:g.45562090G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001330074.2:c.721G>A MANE Select NP_001317003.1:p.Glu241Lys
ENST00000623400.4:c.721G>A MANE Select ENSP00000485513.1:p.Glu241Lys
NM_001169106.1:c.721G>A NP_001162577.1:p.Glu241Lys
NM_001169106.2:c.721G>A NP_001162577.1:p.Glu241Lys
NM_001169107.1:c.721G>A NP_001162578.1:p.Glu241Lys
NM_001169107.2:c.721G>A NP_001162578.1:p.Glu241Lys
NM_001330074.1:c.721G>A NP_001317003.1:p.Glu241Lys
NM_001367393.1:c.715G>A NP_001354322.1:p.Glu239Lys
NM_001367394.1:c.721G>A NP_001354323.1:p.Glu241Lys
NM_001367395.1:c.721G>A NP_001354324.1:p.Glu241Lys
NM_001367396.1:c.721G>A NP_001354325.1:p.Glu241Lys
NM_001367397.1:c.721G>A NP_001354326.1:p.Glu241Lys
NM_001367398.1:c.142G>A NP_001354327.1:p.Glu48Lys
NM_001367399.1:c.457G>A NP_001354328.1:p.Glu153Lys
NM_001367400.1:c.721G>A NP_001354329.1:p.Glu241Lys
NM_001367401.1:c.721G>A NP_001354330.1:p.Glu241Lys
NM_001367402.1:c.142G>A NP_001354331.1:p.Glu48Lys
NM_001367403.1:c.721G>A NP_001354332.1:p.Glu241Lys
NM_001367404.1:c.684+1754G>A NP_001354333.1:n.684+1754G>A
NM_001367405.1:c.142G>A NP_001354334.1:p.Glu48Lys
NM_001367406.1:c.-1000G>A NP_001354335.1:n.-1000G>A
NM_001367407.1:c.142G>A NP_001354336.1:p.Glu48Lys
NM_001367408.1:c.721G>A NP_001354337.1:p.Glu241Lys
NM_001367409.1:c.460G>A NP_001354338.1:p.Glu154Lys
NM_001367410.1:c.457G>A NP_001354339.1:p.Glu153Lys
NM_001367411.1:c.460G>A NP_001354340.1:p.Glu154Lys
NM_001367412.1:c.142G>A NP_001354341.1:p.Glu48Lys
NM_001367413.1:c.460G>A NP_001354342.1:p.Glu154Lys
NM_001367414.1:c.142G>A NP_001354343.1:p.Glu48Lys
NM_001367415.1:c.721G>A NP_001354344.1:p.Glu241Lys
NM_001367416.1:c.721G>A NP_001354345.1:p.Glu241Lys
NM_015262.2:c.721G>A NP_056077.2:p.Glu241Lys
NM_015262.3:c.721G>A NP_056077.2:p.Glu241Lys
NR_159966.1:n.870G>A
ENST00000336378.8:c.721G>A ENSP00000337541.5:p.Glu241Lys
ENST00000359860.7:c.553G>A ENSP00000352922.6:p.Glu185Lys
ENST00000374362.6:c.721G>A ENSP00000363482.2:p.Glu241Lys
ENST00000420848.3:c.556G>A ENSP00000416630.1:p.Glu186Lys
ENST00000537517.5:c.721G>A ENSP00000442128.1:p.Glu241Lys
ENST00000537517.6:c.721G>A ENSP00000442128.1:p.Glu241Lys
ENST00000540872.5:c.721G>A ENSP00000439811.1:p.Glu241Lys
ENST00000540872.6:c.721G>A ENSP00000439811.1:p.Glu241Lys
ENST00000623400.3:c.721G>A ENSP00000485513.1:p.Glu241Lys
XM_011539566.1:c.721G>A XP_011537868.1:p.Glu241Lys
XM_011539567.1:c.721G>A XP_011537869.1:p.Glu241Lys
XM_011539567.2:c.721G>A XP_011537869.1:p.Glu241Lys
XM_011539568.1:c.721G>A XP_011537870.1:p.Glu241Lys
XM_011539568.2:c.721G>A XP_011537870.1:p.Glu241Lys
XM_011539569.1:c.721G>A XP_011537871.1:p.Glu241Lys
XM_011539569.2:c.721G>A XP_011537871.1:p.Glu241Lys
XM_011539570.1:c.547G>A XP_011537872.1:p.Glu183Lys
XM_011539570.3:c.547G>A XP_011537872.1:p.Glu183Lys
XM_011539571.1:c.721G>A XP_011537873.1:p.Glu241Lys
XM_011539571.2:c.721G>A XP_011537873.1:p.Glu241Lys
XM_011539572.1:c.721G>A XP_011537874.1:p.Glu241Lys
XM_011539572.2:c.721G>A XP_011537874.1:p.Glu241Lys
XM_017016014.2:c.721G>A XP_016871503.1:p.Glu241Lys
XM_017016015.2:c.721G>A XP_016871504.1:p.Glu241Lys
XM_017016016.2:c.721G>A XP_016871505.1:p.Glu241Lys
XM_017016017.2:c.721G>A XP_016871506.1:p.Glu241Lys
XM_017016018.2:c.721G>A XP_016871507.1:p.Glu241Lys
XM_017016019.2:c.721G>A XP_016871508.1:p.Glu241Lys
XM_017016020.2:c.721G>A XP_016871509.1:p.Glu241Lys
XM_017016021.1:c.460G>A XP_016871510.1:p.Glu154Lys
XM_017016022.2:c.460G>A XP_016871511.1:p.Glu154Lys
XM_017016023.1:c.460G>A XP_016871512.1:p.Glu154Lys
XM_017016026.2:c.721G>A XP_016871515.1:p.Glu241Lys
XR_002956972.1:n.742G>A