Canonical Allele Identifier: CA2400240234

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699911T= , CM000684.2:g.28699911T=	GRCh38
NC_000022.10:g.29095899T= , CM000684.1:g.29095899T=	GRCh37
NC_000022.9:g.27425899T=	NCBI36
NG_008150.1:g.46924A=
NG_008150.2:g.46956A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.844A=	ENSP00000396903.2:n.844A=
ENST00000711048.1:c.935A=	ENSP00000518557.1:p.Lys312=
ENST00000402731.6:c.734A=	ENSP00000384835.2:p.Lys245=
ENST00000404276.6:c.935A= MANE Select	ENSP00000385747.1:p.Lys312=
ENST00000425190.7:c.272A=	ENSP00000390244.2:p.Lys91=
ENST00000464581.6:c.275A=	ENSP00000483777.2:p.Lys92=
ENST00000648295.1:n.487A=
ENST00000649563.1:c.272A=	ENSP00000496928.1:p.Lys91=
ENST00000650281.1:c.935A=	ENSP00000497000.1:p.Lys312=
ENST00000328354.10:c.935A=	ENSP00000329178.6:p.Lys312=
ENST00000348295.7:c.935A=	ENSP00000329012.5:p.Lys312=
ENST00000382580.6:c.1064A=	ENSP00000372023.2:p.Lys355=
ENST00000402731.5:c.935A=	ENSP00000384835.1:p.Lys312=
ENST00000403642.5:c.662A=	ENSP00000384919.1:p.Lys221=
ENST00000404276.5:c.935A=	ENSP00000385747.1:p.Lys312=
ENST00000405598.5:c.935A=	ENSP00000386087.1:p.Lys312=
ENST00000416671.5:c.*425A=	ENSP00000402225.1:n.*425A=
ENST00000417588.5:c.844A=	ENSP00000412901.1:n.844A=
ENST00000425190.6:c.272A=	ENSP00000390244.1:p.Lys91=
ENST00000433028.6:c.*660A=	ENSP00000403659.1:n.*660A=
ENST00000433728.5:c.873A=	ENSP00000404400.1:n.873A=
ENST00000434810.5:c.166A=
ENST00000439346.5:c.406A=	ENSP00000396903.1:n.406A=
ENST00000447421.5:c.734A=	ENSP00000397478.2:p.Lys245=
ENST00000448511.5:c.825A=	ENSP00000404567.1:n.825A=
ENST00000456369.5:c.190A=
ENST00000464581.5:c.275A=	ENSP00000483777.1:p.Lys92=
ENST00000491919.5:n.492A=
NM_001005735.1:c.1064A=	NP_001005735.1:p.Lys355=
NM_001257387.1:c.272A=	NP_001244316.1:p.Lys91=
NM_007194.3:c.935A=	NP_009125.1:p.Lys312=
NM_145862.2:c.935A=	NP_665861.1:p.Lys312=
XM_006724114.2:c.455A=	XP_006724177.1:p.Lys152=
XM_006724116.2:c.392A=	XP_006724179.2:p.Lys131=
XM_011529839.1:c.1094A=	XP_011528141.1:p.Lys365=
XM_011529840.1:c.1094A=	XP_011528142.1:p.Lys365=
XM_011529841.1:c.863A=	XP_011528143.1:p.Lys288=
XM_011529842.1:c.764A=	XP_011528144.1:p.Lys255=
XM_011529843.1:c.734A=	XP_011528145.1:p.Lys245=
XM_011529844.1:c.1094A=	XP_011528146.1:p.Lys365=
XM_011529845.1:c.272A=	XP_011528147.1:p.Lys91=
XR_937805.1:n.1094A=
XR_937806.1:n.1089A=
XR_937807.1:n.1089A=
NM_001349956.1:c.734A=	NP_001336885.1:p.Lys245=
NM_007194.4:c.935A= MANE Select	NP_009125.1:p.Lys312=
XM_006724114.3:c.488A=	XP_006724177.2:p.Lys163=
XM_011529839.2:c.1094A=	XP_011528141.1:p.Lys365=
XM_011529840.3:c.1094A=	XP_011528142.1:p.Lys365=
XM_011529842.2:c.764A=	XP_011528144.1:p.Lys255=
XM_011529844.2:c.1094A=	XP_011528146.1:p.Lys365=
XM_011529845.2:c.272A=	XP_011528147.1:p.Lys91=
XM_017028560.1:c.1058A=	XP_016884049.1:p.Lys353=
XM_017028561.2:c.272A=	XP_016884050.1:p.Lys91=
XM_024452148.1:c.965A=	XP_024307916.1:p.Lys322=
XM_024452149.1:c.965A=	XP_024307917.1:p.Lys322=
XR_937805.2:n.1105A=
XR_937806.2:n.1105A=
XR_937807.2:n.1105A=
NM_001005735.2:c.1064A=	NP_001005735.1:p.Lys355=
NM_001257387.2:c.272A=	NP_001244316.1:p.Lys91=
NM_001349956.2:c.734A=	NP_001336885.1:p.Lys245=