Canonical Allele Identifier: CA167244

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28710010T>C , CM000684.2:g.28710010T>C	GRCh38
NC_000022.10:g.29105998T>C , CM000684.1:g.29105998T>C	GRCh37
NC_000022.9:g.27435998T>C	NCBI36
NG_008150.1:g.36825A>G
NG_008150.2:g.36857A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_007194.4:c.842A>G MANE Select	NP_009125.1:p.Asn281Ser
ENST00000404276.6:c.842A>G MANE Select	ENSP00000385747.1:p.Asn281Ser
NM_001005735.1:c.971A>G	NP_001005735.1:p.Asn324Ser
NM_001005735.2:c.971A>G	NP_001005735.1:p.Asn324Ser
NM_001257387.1:c.179A>G	NP_001244316.1:p.Asn60Ser
NM_001257387.2:c.179A>G	NP_001244316.1:p.Asn60Ser
NM_001349956.1:c.641A>G	NP_001336885.1:p.Asn214Ser
NM_001349956.2:c.641A>G	NP_001336885.1:p.Asn214Ser
NM_007194.3:c.842A>G	NP_009125.1:p.Asn281Ser
NM_145862.2:c.842A>G	NP_665861.1:p.Asn281Ser
ENST00000328354.10:c.842A>G	ENSP00000329178.6:p.Asn281Ser
ENST00000348295.7:c.842A>G	ENSP00000329012.5:p.Asn281Ser
ENST00000382580.6:c.971A>G	ENSP00000372023.2:p.Asn324Ser
ENST00000402731.5:c.842A>G	ENSP00000384835.1:p.Asn281Ser
ENST00000402731.6:c.641A>G	ENSP00000384835.2:p.Asn214Ser
ENST00000403642.5:c.569A>G	ENSP00000384919.1:p.Asn190Ser
ENST00000404276.5:c.842A>G	ENSP00000385747.1:p.Asn281Ser
ENST00000405598.5:c.842A>G	ENSP00000386087.1:p.Asn281Ser
ENST00000416671.5:c.*332A>G	ENSP00000402225.1:n.*332A>G
ENST00000417588.5:c.751A>G	ENSP00000412901.1:n.751A>G
ENST00000425190.6:c.179A>G	ENSP00000390244.1:p.Asn60Ser
ENST00000425190.7:c.179A>G	ENSP00000390244.2:p.Asn60Ser
ENST00000433028.6:c.*567A>G	ENSP00000403659.1:n.*567A>G
ENST00000433728.5:c.842A>G	ENSP00000404400.1:p.Asn281Ser
ENST00000434810.5:c.73A>G
ENST00000439346.5:c.313A>G	ENSP00000396903.1:n.313A>G
ENST00000439346.6:c.751A>G	ENSP00000396903.2:n.751A>G
ENST00000447421.5:c.641A>G	ENSP00000397478.2:p.Asn214Ser
ENST00000448511.5:c.732A>G	ENSP00000404567.1:n.732A>G
ENST00000456369.5:c.97A>G
ENST00000464581.5:c.182A>G	ENSP00000483777.1:p.Asn61Ser
ENST00000464581.6:c.182A>G	ENSP00000483777.2:p.Asn61Ser
ENST00000491919.5:n.399A>G
ENST00000648295.1:n.394A>G
ENST00000649563.1:c.179A>G	ENSP00000496928.1:p.Asn60Ser
ENST00000650281.1:c.842A>G	ENSP00000497000.1:p.Asn281Ser
ENST00000711048.1:c.842A>G	ENSP00000518557.1:p.Asn281Ser
XM_006724114.2:c.362A>G	XP_006724177.1:p.Asn121Ser
XM_006724114.3:c.395A>G	XP_006724177.2:p.Asn132Ser
XM_006724116.2:c.299A>G	XP_006724179.2:p.Asn100Ser
XM_011529839.1:c.1001A>G	XP_011528141.1:p.Asn334Ser
XM_011529839.2:c.1001A>G	XP_011528141.1:p.Asn334Ser
XM_011529840.1:c.1001A>G	XP_011528142.1:p.Asn334Ser
XM_011529840.3:c.1001A>G	XP_011528142.1:p.Asn334Ser
XM_011529841.1:c.770A>G	XP_011528143.1:p.Asn257Ser
XM_011529842.1:c.671A>G	XP_011528144.1:p.Asn224Ser
XM_011529842.2:c.671A>G	XP_011528144.1:p.Asn224Ser
XM_011529843.1:c.641A>G	XP_011528145.1:p.Asn214Ser
XM_011529844.1:c.1001A>G	XP_011528146.1:p.Asn334Ser
XM_011529844.2:c.1001A>G	XP_011528146.1:p.Asn334Ser
XM_011529845.1:c.179A>G	XP_011528147.1:p.Asn60Ser
XM_011529845.2:c.179A>G	XP_011528147.1:p.Asn60Ser
XM_017028560.1:c.965A>G	XP_016884049.1:p.Asn322Ser
XM_017028561.2:c.179A>G	XP_016884050.1:p.Asn60Ser
XM_024452148.1:c.872A>G	XP_024307916.1:p.Asn291Ser
XM_024452149.1:c.872A>G	XP_024307917.1:p.Asn291Ser
XR_937805.1:n.1063A>G
XR_937805.2:n.1074A>G
XR_937806.1:n.1058A>G
XR_937806.2:n.1074A>G
XR_937807.1:n.1058A>G
XR_937807.2:n.1074A>G