Canonical Allele Identifier: CA2400245952

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28711922G= , CM000684.2:g.28711922G=	GRCh38
NC_000022.10:g.29107910G= , CM000684.1:g.29107910G=	GRCh37
NC_000022.9:g.27437910G=	NCBI36
NG_008150.1:g.34913C=
NG_008150.2:g.34945C=

Transcript Alleles

HGVS	Amino-acid Change
NM_007194.4:c.779C= MANE Select	NP_009125.1:p.Ser260=
ENST00000404276.6:c.779C= MANE Select	ENSP00000385747.1:p.Ser260=
NM_001005735.1:c.908C=	NP_001005735.1:p.Ser303=
NM_001005735.2:c.908C=	NP_001005735.1:p.Ser303=
NM_001257387.1:c.116C=	NP_001244316.1:p.Ser39=
NM_001257387.2:c.116C=	NP_001244316.1:p.Ser39=
NM_001349956.1:c.578C=	NP_001336885.1:p.Ser193=
NM_001349956.2:c.578C=	NP_001336885.1:p.Ser193=
NM_007194.3:c.779C=	NP_009125.1:p.Ser260=
NM_145862.2:c.779C=	NP_665861.1:p.Ser260=
ENST00000328354.10:c.779C=	ENSP00000329178.6:p.Ser260=
ENST00000348295.7:c.779C=	ENSP00000329012.5:p.Ser260=
ENST00000382580.6:c.908C=	ENSP00000372023.2:p.Ser303=
ENST00000402731.5:c.779C=	ENSP00000384835.1:p.Ser260=
ENST00000402731.6:c.578C=	ENSP00000384835.2:p.Ser193=
ENST00000403642.5:c.506C=	ENSP00000384919.1:p.Ser169=
ENST00000404276.5:c.779C=	ENSP00000385747.1:p.Ser260=
ENST00000405598.5:c.779C=	ENSP00000386087.1:p.Ser260=
ENST00000416671.5:c.*269C=	ENSP00000402225.1:n.*269C=
ENST00000417588.5:c.688C=	ENSP00000412901.1:n.688C=
ENST00000425190.6:c.116C=	ENSP00000390244.1:p.Ser39=
ENST00000425190.7:c.116C=	ENSP00000390244.2:p.Ser39=
ENST00000433028.6:c.*504C=	ENSP00000403659.1:n.*504C=
ENST00000433728.5:c.779C=	ENSP00000404400.1:p.Ser260=
ENST00000434810.5:c.10C=
ENST00000439200.5:c.872C=	ENSP00000408065.1:p.Ser291=
ENST00000439346.5:c.250C=	ENSP00000396903.1:n.250C=
ENST00000439346.6:c.688C=	ENSP00000396903.2:n.688C=
ENST00000447421.5:c.578C=	ENSP00000397478.2:p.Ser193=
ENST00000448511.5:c.669C=	ENSP00000404567.1:n.669C=
ENST00000456369.5:c.34C=
ENST00000464581.5:c.119C=	ENSP00000483777.1:p.Ser40=
ENST00000464581.6:c.119C=	ENSP00000483777.2:p.Ser40=
ENST00000491919.5:n.336C=
ENST00000648295.1:n.331C=
ENST00000649563.1:c.116C=	ENSP00000496928.1:p.Ser39=
ENST00000650281.1:c.779C=	ENSP00000497000.1:p.Ser260=
ENST00000711048.1:c.779C=	ENSP00000518557.1:p.Ser260=
XM_006724114.2:c.299C=	XP_006724177.1:p.Ser100=
XM_006724114.3:c.332C=	XP_006724177.2:p.Ser111=
XM_006724116.2:c.236C=	XP_006724179.2:p.Ser79=
XM_011529839.1:c.938C=	XP_011528141.1:p.Ser313=
XM_011529839.2:c.938C=	XP_011528141.1:p.Ser313=
XM_011529840.1:c.938C=	XP_011528142.1:p.Ser313=
XM_011529840.3:c.938C=	XP_011528142.1:p.Ser313=
XM_011529841.1:c.707C=	XP_011528143.1:p.Ser236=
XM_011529842.1:c.608C=	XP_011528144.1:p.Ser203=
XM_011529842.2:c.608C=	XP_011528144.1:p.Ser203=
XM_011529843.1:c.578C=	XP_011528145.1:p.Ser193=
XM_011529844.1:c.938C=	XP_011528146.1:p.Ser313=
XM_011529844.2:c.938C=	XP_011528146.1:p.Ser313=
XM_011529845.1:c.116C=	XP_011528147.1:p.Ser39=
XM_011529845.2:c.116C=	XP_011528147.1:p.Ser39=
XM_017028560.1:c.902C=	XP_016884049.1:p.Ser301=
XM_017028561.2:c.116C=	XP_016884050.1:p.Ser39=
XM_024452148.1:c.809C=	XP_024307916.1:p.Ser270=
XM_024452149.1:c.809C=	XP_024307917.1:p.Ser270=
XR_937805.1:n.1000C=
XR_937805.2:n.1011C=
XR_937806.1:n.995C=
XR_937806.2:n.1011C=
XR_937807.1:n.995C=
XR_937807.2:n.1011C=