Canonical Allele Identifier: CA411104942
Community Standard Title: NM_007194.4(CHEK2):c.655G>T (p.Glu219Ter)
Gene: CHEK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28719423C>A , CM000684.2:g.28719423C>A GRCh38
NC_000022.10:g.29115411C>A , CM000684.1:g.29115411C>A GRCh37
NC_000022.9:g.27445411C>A NCBI36
NG_008150.1:g.27412G>T
NG_008150.2:g.27444G>T

Transcript Alleles

HGVS Amino-acid Change
NM_007194.4:c.655G>T MANE Select NP_009125.1:p.Glu219Ter
ENST00000404276.6:c.655G>T MANE Select ENSP00000385747.1:p.Glu219Ter
NM_001005735.1:c.784G>T NP_001005735.1:p.Glu262Ter
NM_001005735.2:c.784G>T NP_001005735.1:p.Glu262Ter
NM_001257387.1:c.-9G>T NP_001244316.1:n.-9G>T
NM_001257387.2:c.-9G>T NP_001244316.1:n.-9G>T
NM_001349956.1:c.482+5463G>T NP_001336885.1:n.482+5463G>T
NM_001349956.2:c.482+5463G>T NP_001336885.1:n.482+5463G>T
NM_007194.3:c.655G>T NP_009125.1:p.Glu219Ter
NM_145862.2:c.655G>T NP_665861.1:p.Glu219Ter
ENST00000328354.10:c.655G>T ENSP00000329178.6:p.Glu219Ter
ENST00000348295.7:c.655G>T ENSP00000329012.5:p.Glu219Ter
ENST00000382580.6:c.784G>T ENSP00000372023.2:p.Glu262Ter
ENST00000402731.5:c.655G>T ENSP00000384835.1:p.Glu219Ter
ENST00000402731.6:c.482+5463G>T ENSP00000384835.2:n.482+5463G>T
ENST00000403642.5:c.382G>T ENSP00000384919.1:p.Glu128Ter
ENST00000404276.5:c.655G>T ENSP00000385747.1:p.Glu219Ter
ENST00000405598.5:c.655G>T ENSP00000386087.1:p.Glu219Ter
ENST00000416671.5:c.*145G>T ENSP00000402225.1:n.*145G>T
ENST00000417588.5:c.592+5554G>T ENSP00000412901.1:n.592+5554G>T
ENST00000425190.6:c.-9G>T ENSP00000390244.1:n.-9G>T
ENST00000425190.7:c.-9G>T ENSP00000390244.2:n.-9G>T
ENST00000433028.6:c.*380G>T ENSP00000403659.1:n.*380G>T
ENST00000433728.5:c.655G>T ENSP00000404400.1:p.Glu219Ter
ENST00000439200.5:c.748G>T ENSP00000408065.1:p.Glu250Ter
ENST00000439346.5:c.154+5554G>T ENSP00000396903.1:n.154+5554G>T
ENST00000439346.6:c.592+5554G>T ENSP00000396903.2:n.592+5554G>T
ENST00000447421.5:c.482+5463G>T ENSP00000397478.2:n.482+5463G>T
ENST00000448511.5:c.545G>T ENSP00000404567.1:n.545G>T
ENST00000649563.1:c.-9G>T ENSP00000496928.1:n.-9G>T
ENST00000650281.1:c.655G>T ENSP00000497000.1:p.Glu219Ter
ENST00000711048.1:c.655G>T ENSP00000518557.1:p.Glu219Ter
XM_011529839.1:c.814G>T XP_011528141.1:p.Glu272Ter
XM_011529839.2:c.814G>T XP_011528141.1:p.Glu272Ter
XM_011529840.1:c.814G>T XP_011528142.1:p.Glu272Ter
XM_011529840.3:c.814G>T XP_011528142.1:p.Glu272Ter
XM_011529841.1:c.611+5463G>T XP_011528143.1:n.611+5463G>T
XM_011529842.1:c.512+5463G>T XP_011528144.1:n.512+5463G>T
XM_011529842.2:c.512+5463G>T XP_011528144.1:n.512+5463G>T
XM_011529843.1:c.482+5463G>T XP_011528145.1:n.482+5463G>T
XM_011529844.1:c.814G>T XP_011528146.1:p.Glu272Ter
XM_011529844.2:c.814G>T XP_011528146.1:p.Glu272Ter
XM_011529845.1:c.-9G>T XP_011528147.1:n.-9G>T
XM_011529845.2:c.-9G>T XP_011528147.1:n.-9G>T
XM_017028560.1:c.778G>T XP_016884049.1:p.Glu260Ter
XM_017028561.2:c.-9G>T XP_016884050.1:n.-9G>T
XM_024452148.1:c.685G>T XP_024307916.1:p.Glu229Ter
XM_024452149.1:c.685G>T XP_024307917.1:p.Glu229Ter
XR_937805.1:n.876G>T
XR_937805.2:n.887G>T
XR_937806.1:n.871G>T
XR_937806.2:n.887G>T
XR_937807.1:n.871G>T
XR_937807.2:n.887G>T