Canonical Allele Identifier: CA513945259

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28719448T>C , CM000684.2:g.28719448T>C	GRCh38
NC_000022.10:g.29115436T>C , CM000684.1:g.29115436T>C	GRCh37
NC_000022.9:g.27445436T>C	NCBI36
NG_008150.1:g.27387A>G
NG_008150.2:g.27419A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_007194.4:c.630A>G MANE Select	NP_009125.1:p.Ser210=
ENST00000404276.6:c.630A>G MANE Select	ENSP00000385747.1:p.Ser210=
NM_001005735.1:c.759A>G	NP_001005735.1:p.Ser253=
NM_001005735.2:c.759A>G	NP_001005735.1:p.Ser253=
NM_001257387.1:c.-34A>G	NP_001244316.1:n.-34A>G
NM_001257387.2:c.-34A>G	NP_001244316.1:n.-34A>G
NM_001349956.1:c.482+5438A>G	NP_001336885.1:n.482+5438A>G
NM_001349956.2:c.482+5438A>G	NP_001336885.1:n.482+5438A>G
NM_007194.3:c.630A>G	NP_009125.1:p.Ser210=
NM_145862.2:c.630A>G	NP_665861.1:p.Ser210=
ENST00000328354.10:c.630A>G	ENSP00000329178.6:p.Ser210=
ENST00000348295.7:c.630A>G	ENSP00000329012.5:p.Ser210=
ENST00000382580.6:c.759A>G	ENSP00000372023.2:p.Ser253=
ENST00000402731.5:c.630A>G	ENSP00000384835.1:p.Ser210=
ENST00000402731.6:c.482+5438A>G	ENSP00000384835.2:n.482+5438A>G
ENST00000403642.5:c.357A>G	ENSP00000384919.1:p.Ser119=
ENST00000404276.5:c.630A>G	ENSP00000385747.1:p.Ser210=
ENST00000405598.5:c.630A>G	ENSP00000386087.1:p.Ser210=
ENST00000416671.5:c.*120A>G	ENSP00000402225.1:n.*120A>G
ENST00000417588.5:c.592+5529A>G	ENSP00000412901.1:n.592+5529A>G
ENST00000425190.6:c.-34A>G	ENSP00000390244.1:n.-34A>G
ENST00000425190.7:c.-34A>G	ENSP00000390244.2:n.-34A>G
ENST00000433028.6:c.*355A>G	ENSP00000403659.1:n.*355A>G
ENST00000433728.5:c.630A>G	ENSP00000404400.1:p.Ser210=
ENST00000439200.5:c.723A>G	ENSP00000408065.1:p.Ser241=
ENST00000439346.5:c.154+5529A>G	ENSP00000396903.1:n.154+5529A>G
ENST00000439346.6:c.592+5529A>G	ENSP00000396903.2:n.592+5529A>G
ENST00000447421.5:c.482+5438A>G	ENSP00000397478.2:n.482+5438A>G
ENST00000448511.5:c.520A>G	ENSP00000404567.1:n.520A>G
ENST00000649563.1:c.-34A>G	ENSP00000496928.1:n.-34A>G
ENST00000650281.1:c.630A>G	ENSP00000497000.1:p.Ser210=
ENST00000711048.1:c.630A>G	ENSP00000518557.1:p.Ser210=
XM_011529839.1:c.789A>G	XP_011528141.1:p.Ser263=
XM_011529839.2:c.789A>G	XP_011528141.1:p.Ser263=
XM_011529840.1:c.789A>G	XP_011528142.1:p.Ser263=
XM_011529840.3:c.789A>G	XP_011528142.1:p.Ser263=
XM_011529841.1:c.611+5438A>G	XP_011528143.1:n.611+5438A>G
XM_011529842.1:c.512+5438A>G	XP_011528144.1:n.512+5438A>G
XM_011529842.2:c.512+5438A>G	XP_011528144.1:n.512+5438A>G
XM_011529843.1:c.482+5438A>G	XP_011528145.1:n.482+5438A>G
XM_011529844.1:c.789A>G	XP_011528146.1:p.Ser263=
XM_011529844.2:c.789A>G	XP_011528146.1:p.Ser263=
XM_011529845.1:c.-34A>G	XP_011528147.1:n.-34A>G
XM_011529845.2:c.-34A>G	XP_011528147.1:n.-34A>G
XM_017028560.1:c.753A>G	XP_016884049.1:p.Ser251=
XM_017028561.2:c.-34A>G	XP_016884050.1:n.-34A>G
XM_024452148.1:c.660A>G	XP_024307916.1:p.Ser220=
XM_024452149.1:c.660A>G	XP_024307917.1:p.Ser220=
XR_937805.1:n.851A>G
XR_937805.2:n.862A>G
XR_937806.1:n.846A>G
XR_937806.2:n.862A>G
XR_937807.1:n.846A>G
XR_937807.2:n.862A>G