Canonical Allele Identifier: CA2400234748

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28687974G= , CM000684.2:g.28687974G=	GRCh38
NC_000022.10:g.29083962G= , CM000684.1:g.29083962G=	GRCh37
NC_000022.9:g.27413962G=	NCBI36
NG_008150.1:g.58861C=
NG_008150.2:g.58893C=

Transcript Alleles

HGVS	Amino-acid Change
NM_007194.4:c.1555C= MANE Select	NP_009125.1:p.Arg519=
ENST00000404276.6:c.1555C= MANE Select	ENSP00000385747.1:p.Arg519=
NM_001005735.1:c.1684C=	NP_001005735.1:p.Arg562=
NM_001005735.2:c.1684C=	NP_001005735.1:p.Arg562=
NM_001257387.1:c.892C=	NP_001244316.1:p.Arg298=
NM_001257387.2:c.892C=	NP_001244316.1:p.Arg298=
NM_001349956.1:c.1354C=	NP_001336885.1:p.Arg452=
NM_001349956.2:c.1354C=	NP_001336885.1:p.Arg452=
NM_007194.3:c.1555C=	NP_009125.1:p.Arg519=
NM_145862.2:c.1468C=	NP_665861.1:p.Arg490=
ENST00000328354.10:c.1555C=	ENSP00000329178.6:p.Arg519=
ENST00000348295.7:c.1468C=	ENSP00000329012.5:p.Arg490=
ENST00000382580.6:c.1684C=	ENSP00000372023.2:p.Arg562=
ENST00000402731.5:c.1468C=	ENSP00000384835.1:p.Arg490=
ENST00000402731.6:c.1354C=	ENSP00000384835.2:p.Arg452=
ENST00000403642.5:c.1282C=	ENSP00000384919.1:p.Arg428=
ENST00000404276.5:c.1555C=	ENSP00000385747.1:p.Arg519=
ENST00000405598.5:c.1555C=	ENSP00000386087.1:p.Arg519=
ENST00000416671.5:c.*1045C=	ENSP00000402225.1:n.*1045C=
ENST00000417588.5:c.1464C=	ENSP00000412901.1:n.1464C=
ENST00000425190.7:c.892C=	ENSP00000390244.2:p.Arg298=
ENST00000433728.5:c.1493C=	ENSP00000404400.1:n.1493C=
ENST00000434810.5:c.753C=
ENST00000448511.5:c.1445C=	ENSP00000404567.1:n.1445C=
ENST00000456369.5:c.357C=
ENST00000464581.6:c.895C=	ENSP00000483777.2:p.Arg299=
ENST00000472807.1:n.289C=
ENST00000648295.1:n.1107C=
ENST00000649563.1:c.892C=	ENSP00000496928.1:p.Arg298=
ENST00000650281.1:c.1555C=	ENSP00000497000.1:p.Arg519=
ENST00000711048.1:c.*290C=	ENSP00000518557.1:n.*290C=
XM_006724114.2:c.1075C=	XP_006724177.1:p.Arg359=
XM_006724114.3:c.1108C=	XP_006724177.2:p.Arg370=
XM_006724116.2:c.1012C=	XP_006724179.2:p.Arg338=
XM_011529839.1:c.1714C=	XP_011528141.1:p.Arg572=
XM_011529839.2:c.1714C=	XP_011528141.1:p.Arg572=
XM_011529840.1:c.1627C=	XP_011528142.1:p.Arg543=
XM_011529840.3:c.1627C=	XP_011528142.1:p.Arg543=
XM_011529841.1:c.1483C=	XP_011528143.1:p.Arg495=
XM_011529842.1:c.1384C=	XP_011528144.1:p.Arg462=
XM_011529842.2:c.1384C=	XP_011528144.1:p.Arg462=
XM_011529843.1:c.1354C=	XP_011528145.1:p.Arg452=
XM_011529845.1:c.892C=	XP_011528147.1:p.Arg298=
XM_011529845.2:c.892C=	XP_011528147.1:p.Arg298=
XM_017028560.1:c.1678C=	XP_016884049.1:p.Arg560=
XM_017028561.2:c.892C=	XP_016884050.1:p.Arg298=
XM_024452148.1:c.1585C=	XP_024307916.1:p.Arg529=
XM_024452149.1:c.1498C=	XP_024307917.1:p.Arg500=
XR_937805.1:n.1714C=
XR_937805.2:n.1725C=