Canonical Allele Identifier: CA2400237536

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694114A= , CM000684.2:g.28694114A=	GRCh38
NC_000022.10:g.29090102A= , CM000684.1:g.29090102A=	GRCh37
NC_000022.9:g.27420102A=	NCBI36
NG_008150.1:g.52721T=
NG_008150.2:g.52753T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*114T=	ENSP00000518557.1:n.*114T=
ENST00000402731.6:c.1178T=	ENSP00000384835.2:p.Leu393=
ENST00000404276.6:c.1379T= MANE Select	ENSP00000385747.1:p.Leu460=
ENST00000425190.7:c.716T=	ENSP00000390244.2:p.Leu239=
ENST00000464581.6:c.719T=	ENSP00000483777.2:p.Leu240=
ENST00000648295.1:n.931T=
ENST00000649563.1:c.716T=	ENSP00000496928.1:p.Leu239=
ENST00000650281.1:c.1379T=	ENSP00000497000.1:p.Leu460=
ENST00000328354.10:c.1379T=	ENSP00000329178.6:p.Leu460=
ENST00000348295.7:c.1292T=	ENSP00000329012.5:p.Leu431=
ENST00000382580.6:c.1508T=	ENSP00000372023.2:p.Leu503=
ENST00000402731.5:c.1292T=	ENSP00000384835.1:p.Leu431=
ENST00000403642.5:c.1106T=	ENSP00000384919.1:p.Leu369=
ENST00000404276.5:c.1379T=	ENSP00000385747.1:p.Leu460=
ENST00000405598.5:c.1379T=	ENSP00000386087.1:p.Leu460=
ENST00000416671.5:c.*869T=	ENSP00000402225.1:n.*869T=
ENST00000417588.5:c.1288T=	ENSP00000412901.1:n.1288T=
ENST00000433728.5:c.1317T=	ENSP00000404400.1:n.1317T=
ENST00000434810.5:c.577T=
ENST00000448511.5:c.1269T=	ENSP00000404567.1:n.1269T=
ENST00000456369.5:c.264-4899T=
NM_001005735.1:c.1508T=	NP_001005735.1:p.Leu503=
NM_001257387.1:c.716T=	NP_001244316.1:p.Leu239=
NM_007194.3:c.1379T=	NP_009125.1:p.Leu460=
NM_145862.2:c.1292T=	NP_665861.1:p.Leu431=
XM_006724114.2:c.899T=	XP_006724177.1:p.Leu300=
XM_006724116.2:c.836T=	XP_006724179.2:p.Leu279=
XM_011529839.1:c.1538T=	XP_011528141.1:p.Leu513=
XM_011529840.1:c.1451T=	XP_011528142.1:p.Leu484=
XM_011529841.1:c.1307T=	XP_011528143.1:p.Leu436=
XM_011529842.1:c.1208T=	XP_011528144.1:p.Leu403=
XM_011529843.1:c.1178T=	XP_011528145.1:p.Leu393=
XM_011529845.1:c.716T=	XP_011528147.1:p.Leu239=
XR_937805.1:n.1538T=
NM_001349956.1:c.1178T=	NP_001336885.1:p.Leu393=
NM_007194.4:c.1379T= MANE Select	NP_009125.1:p.Leu460=
XM_006724114.3:c.932T=	XP_006724177.2:p.Leu311=
XM_011529839.2:c.1538T=	XP_011528141.1:p.Leu513=
XM_011529840.3:c.1451T=	XP_011528142.1:p.Leu484=
XM_011529842.2:c.1208T=	XP_011528144.1:p.Leu403=
XM_011529845.2:c.716T=	XP_011528147.1:p.Leu239=
XM_017028560.1:c.1502T=	XP_016884049.1:p.Leu501=
XM_017028561.2:c.716T=	XP_016884050.1:p.Leu239=
XM_024452148.1:c.1409T=	XP_024307916.1:p.Leu470=
XM_024452149.1:c.1322T=	XP_024307917.1:p.Leu441=
XR_937805.2:n.1549T=
NM_001005735.2:c.1508T=	NP_001005735.1:p.Leu503=
NM_001257387.2:c.716T=	NP_001244316.1:p.Leu239=
NM_001349956.2:c.1178T=	NP_001336885.1:p.Leu393=