Canonical Allele Identifier: CA513944659

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28687942A>G , CM000684.2:g.28687942A>G	GRCh38
NC_000022.10:g.29083930A>G , CM000684.1:g.29083930A>G	GRCh37
NC_000022.9:g.27413930A>G	NCBI36
NG_008150.1:g.58893T>C
NG_008150.2:g.58925T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_007194.4:c.1587T>C MANE Select	NP_009125.1:p.Gly529=
ENST00000404276.6:c.1587T>C MANE Select	ENSP00000385747.1:p.Gly529=
NM_001005735.1:c.1716T>C	NP_001005735.1:p.Gly572=
NM_001005735.2:c.1716T>C	NP_001005735.1:p.Gly572=
NM_001257387.1:c.924T>C	NP_001244316.1:p.Gly308=
NM_001257387.2:c.924T>C	NP_001244316.1:p.Gly308=
NM_001349956.1:c.1386T>C	NP_001336885.1:p.Gly462=
NM_001349956.2:c.1386T>C	NP_001336885.1:p.Gly462=
NM_007194.3:c.1587T>C	NP_009125.1:p.Gly529=
NM_145862.2:c.1500T>C	NP_665861.1:p.Gly500=
ENST00000328354.10:c.1587T>C	ENSP00000329178.6:p.Gly529=
ENST00000348295.7:c.1500T>C	ENSP00000329012.5:p.Gly500=
ENST00000382580.6:c.1716T>C	ENSP00000372023.2:p.Gly572=
ENST00000402731.5:c.1500T>C	ENSP00000384835.1:p.Gly500=
ENST00000402731.6:c.1386T>C	ENSP00000384835.2:p.Gly462=
ENST00000403642.5:c.1314T>C	ENSP00000384919.1:p.Gly438=
ENST00000404276.5:c.1587T>C	ENSP00000385747.1:p.Gly529=
ENST00000405598.5:c.1587T>C	ENSP00000386087.1:p.Gly529=
ENST00000416671.5:c.*1077T>C	ENSP00000402225.1:n.*1077T>C
ENST00000417588.5:c.1496T>C	ENSP00000412901.1:n.1496T>C
ENST00000425190.7:c.924T>C	ENSP00000390244.2:p.Gly308=
ENST00000433728.5:c.1525T>C	ENSP00000404400.1:n.1525T>C
ENST00000434810.5:c.785T>C
ENST00000448511.5:c.1477T>C	ENSP00000404567.1:n.1477T>C
ENST00000456369.5:c.389T>C
ENST00000464581.6:c.927T>C	ENSP00000483777.2:p.Gly309=
ENST00000472807.1:n.321T>C
ENST00000648295.1:n.1139T>C
ENST00000649563.1:c.924T>C	ENSP00000496928.1:p.Gly308=
ENST00000650281.1:c.1587T>C	ENSP00000497000.1:p.Gly529=
ENST00000711048.1:c.*322T>C	ENSP00000518557.1:n.*322T>C
XM_006724114.2:c.1107T>C	XP_006724177.1:p.Gly369=
XM_006724114.3:c.1140T>C	XP_006724177.2:p.Gly380=
XM_006724116.2:c.1044T>C	XP_006724179.2:p.Gly348=
XM_011529839.1:c.1746T>C	XP_011528141.1:p.Gly582=
XM_011529839.2:c.1746T>C	XP_011528141.1:p.Gly582=
XM_011529840.1:c.1659T>C	XP_011528142.1:p.Gly553=
XM_011529840.3:c.1659T>C	XP_011528142.1:p.Gly553=
XM_011529841.1:c.1515T>C	XP_011528143.1:p.Gly505=
XM_011529842.1:c.1416T>C	XP_011528144.1:p.Gly472=
XM_011529842.2:c.1416T>C	XP_011528144.1:p.Gly472=
XM_011529843.1:c.1386T>C	XP_011528145.1:p.Gly462=
XM_011529845.1:c.924T>C	XP_011528147.1:p.Gly308=
XM_011529845.2:c.924T>C	XP_011528147.1:p.Gly308=
XM_017028560.1:c.1710T>C	XP_016884049.1:p.Gly570=
XM_017028561.2:c.924T>C	XP_016884050.1:p.Gly308=
XM_024452148.1:c.1617T>C	XP_024307916.1:p.Gly539=
XM_024452149.1:c.1530T>C	XP_024307917.1:p.Gly510=
XR_937805.1:n.1746T>C
XR_937805.2:n.1757T>C