Canonical Allele Identifier: CA411104932
Community Standard Title: NM_007194.4(CHEK2):c.657A>C (p.Glu219Asp)
Gene: CHEK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28719421T>G , CM000684.2:g.28719421T>G GRCh38
NC_000022.10:g.29115409T>G , CM000684.1:g.29115409T>G GRCh37
NC_000022.9:g.27445409T>G NCBI36
NG_008150.1:g.27414A>C
NG_008150.2:g.27446A>C

Transcript Alleles

HGVS Amino-acid Change
NM_007194.4:c.657A>C MANE Select NP_009125.1:p.Glu219Asp
ENST00000404276.6:c.657A>C MANE Select ENSP00000385747.1:p.Glu219Asp
NM_001005735.1:c.786A>C NP_001005735.1:p.Glu262Asp
NM_001005735.2:c.786A>C NP_001005735.1:p.Glu262Asp
NM_001257387.1:c.-7A>C NP_001244316.1:n.-7A>C
NM_001257387.2:c.-7A>C NP_001244316.1:n.-7A>C
NM_001349956.1:c.482+5465A>C NP_001336885.1:n.482+5465A>C
NM_001349956.2:c.482+5465A>C NP_001336885.1:n.482+5465A>C
NM_007194.3:c.657A>C NP_009125.1:p.Glu219Asp
NM_145862.2:c.657A>C NP_665861.1:p.Glu219Asp
ENST00000328354.10:c.657A>C ENSP00000329178.6:p.Glu219Asp
ENST00000348295.7:c.657A>C ENSP00000329012.5:p.Glu219Asp
ENST00000382580.6:c.786A>C ENSP00000372023.2:p.Glu262Asp
ENST00000402731.5:c.657A>C ENSP00000384835.1:p.Glu219Asp
ENST00000402731.6:c.482+5465A>C ENSP00000384835.2:n.482+5465A>C
ENST00000403642.5:c.384A>C ENSP00000384919.1:p.Glu128Asp
ENST00000404276.5:c.657A>C ENSP00000385747.1:p.Glu219Asp
ENST00000405598.5:c.657A>C ENSP00000386087.1:p.Glu219Asp
ENST00000416671.5:c.*147A>C ENSP00000402225.1:n.*147A>C
ENST00000417588.5:c.592+5556A>C ENSP00000412901.1:n.592+5556A>C
ENST00000425190.6:c.-7A>C ENSP00000390244.1:n.-7A>C
ENST00000425190.7:c.-7A>C ENSP00000390244.2:n.-7A>C
ENST00000433028.6:c.*382A>C ENSP00000403659.1:n.*382A>C
ENST00000433728.5:c.657A>C ENSP00000404400.1:p.Glu219Asp
ENST00000439200.5:c.750A>C ENSP00000408065.1:p.Glu250Asp
ENST00000439346.5:c.154+5556A>C ENSP00000396903.1:n.154+5556A>C
ENST00000439346.6:c.592+5556A>C ENSP00000396903.2:n.592+5556A>C
ENST00000447421.5:c.482+5465A>C ENSP00000397478.2:n.482+5465A>C
ENST00000448511.5:c.547A>C ENSP00000404567.1:n.547A>C
ENST00000649563.1:c.-7A>C ENSP00000496928.1:n.-7A>C
ENST00000650281.1:c.657A>C ENSP00000497000.1:p.Glu219Asp
ENST00000711048.1:c.657A>C ENSP00000518557.1:p.Glu219Asp
XM_011529839.1:c.816A>C XP_011528141.1:p.Glu272Asp
XM_011529839.2:c.816A>C XP_011528141.1:p.Glu272Asp
XM_011529840.1:c.816A>C XP_011528142.1:p.Glu272Asp
XM_011529840.3:c.816A>C XP_011528142.1:p.Glu272Asp
XM_011529841.1:c.611+5465A>C XP_011528143.1:n.611+5465A>C
XM_011529842.1:c.512+5465A>C XP_011528144.1:n.512+5465A>C
XM_011529842.2:c.512+5465A>C XP_011528144.1:n.512+5465A>C
XM_011529843.1:c.482+5465A>C XP_011528145.1:n.482+5465A>C
XM_011529844.1:c.816A>C XP_011528146.1:p.Glu272Asp
XM_011529844.2:c.816A>C XP_011528146.1:p.Glu272Asp
XM_011529845.1:c.-7A>C XP_011528147.1:n.-7A>C
XM_011529845.2:c.-7A>C XP_011528147.1:n.-7A>C
XM_017028560.1:c.780A>C XP_016884049.1:p.Glu260Asp
XM_017028561.2:c.-7A>C XP_016884050.1:n.-7A>C
XM_024452148.1:c.687A>C XP_024307916.1:p.Glu229Asp
XM_024452149.1:c.687A>C XP_024307917.1:p.Glu229Asp
XR_937805.1:n.878A>C
XR_937805.2:n.889A>C
XR_937806.1:n.873A>C
XR_937806.2:n.889A>C
XR_937807.1:n.873A>C
XR_937807.2:n.889A>C