Canonical Allele Identifier: CA323020968

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28710006A>G , CM000684.2:g.28710006A>G	GRCh38
NC_000022.10:g.29105994A>G , CM000684.1:g.29105994A>G	GRCh37
NC_000022.9:g.27435994A>G	NCBI36
NG_008150.1:g.36829T>C
NG_008150.2:g.36861T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_007194.4:c.846T>C MANE Select	NP_009125.1:p.His282=
ENST00000404276.6:c.846T>C MANE Select	ENSP00000385747.1:p.His282=
NM_001005735.1:c.975T>C	NP_001005735.1:p.His325=
NM_001005735.2:c.975T>C	NP_001005735.1:p.His325=
NM_001257387.1:c.183T>C	NP_001244316.1:p.His61=
NM_001257387.2:c.183T>C	NP_001244316.1:p.His61=
NM_001349956.1:c.645T>C	NP_001336885.1:p.His215=
NM_001349956.2:c.645T>C	NP_001336885.1:p.His215=
NM_007194.3:c.846T>C	NP_009125.1:p.His282=
NM_145862.2:c.846T>C	NP_665861.1:p.His282=
ENST00000328354.10:c.846T>C	ENSP00000329178.6:p.His282=
ENST00000348295.7:c.846T>C	ENSP00000329012.5:p.His282=
ENST00000382580.6:c.975T>C	ENSP00000372023.2:p.His325=
ENST00000402731.5:c.846T>C	ENSP00000384835.1:p.His282=
ENST00000402731.6:c.645T>C	ENSP00000384835.2:p.His215=
ENST00000403642.5:c.573T>C	ENSP00000384919.1:p.His191=
ENST00000404276.5:c.846T>C	ENSP00000385747.1:p.His282=
ENST00000405598.5:c.846T>C	ENSP00000386087.1:p.His282=
ENST00000416671.5:c.*336T>C	ENSP00000402225.1:n.*336T>C
ENST00000417588.5:c.755T>C	ENSP00000412901.1:n.755T>C
ENST00000425190.6:c.183T>C	ENSP00000390244.1:p.His61=
ENST00000425190.7:c.183T>C	ENSP00000390244.2:p.His61=
ENST00000433028.6:c.*571T>C	ENSP00000403659.1:n.*571T>C
ENST00000433728.5:c.846T>C	ENSP00000404400.1:p.His282=
ENST00000434810.5:c.77T>C
ENST00000439346.5:c.317T>C	ENSP00000396903.1:n.317T>C
ENST00000439346.6:c.755T>C	ENSP00000396903.2:n.755T>C
ENST00000447421.5:c.645T>C	ENSP00000397478.2:p.His215=
ENST00000448511.5:c.736T>C	ENSP00000404567.1:n.736T>C
ENST00000456369.5:c.101T>C
ENST00000464581.5:c.186T>C	ENSP00000483777.1:p.His62=
ENST00000464581.6:c.186T>C	ENSP00000483777.2:p.His62=
ENST00000491919.5:n.403T>C
ENST00000648295.1:n.398T>C
ENST00000649563.1:c.183T>C	ENSP00000496928.1:p.His61=
ENST00000650281.1:c.846T>C	ENSP00000497000.1:p.His282=
ENST00000711048.1:c.846T>C	ENSP00000518557.1:p.His282=
XM_006724114.2:c.366T>C	XP_006724177.1:p.His122=
XM_006724114.3:c.399T>C	XP_006724177.2:p.His133=
XM_006724116.2:c.303T>C	XP_006724179.2:p.His101=
XM_011529839.1:c.1005T>C	XP_011528141.1:p.His335=
XM_011529839.2:c.1005T>C	XP_011528141.1:p.His335=
XM_011529840.1:c.1005T>C	XP_011528142.1:p.His335=
XM_011529840.3:c.1005T>C	XP_011528142.1:p.His335=
XM_011529841.1:c.774T>C	XP_011528143.1:p.His258=
XM_011529842.1:c.675T>C	XP_011528144.1:p.His225=
XM_011529842.2:c.675T>C	XP_011528144.1:p.His225=
XM_011529843.1:c.645T>C	XP_011528145.1:p.His215=
XM_011529844.1:c.1005T>C	XP_011528146.1:p.His335=
XM_011529844.2:c.1005T>C	XP_011528146.1:p.His335=
XM_011529845.1:c.183T>C	XP_011528147.1:p.His61=
XM_011529845.2:c.183T>C	XP_011528147.1:p.His61=
XM_017028560.1:c.969T>C	XP_016884049.1:p.His323=
XM_017028561.2:c.183T>C	XP_016884050.1:p.His61=
XM_024452148.1:c.876T>C	XP_024307916.1:p.His292=
XM_024452149.1:c.876T>C	XP_024307917.1:p.His292=
XR_937805.1:n.1067T>C
XR_937805.2:n.1078T>C
XR_937806.1:n.1062T>C
XR_937806.2:n.1078T>C
XR_937807.1:n.1062T>C
XR_937807.2:n.1078T>C