Canonical Allele Identifier: CA513945093

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28703558G>A , CM000684.2:g.28703558G>A	GRCh38
NC_000022.10:g.29099546G>A , CM000684.1:g.29099546G>A	GRCh37
NC_000022.9:g.27429546G>A	NCBI36
NG_008150.1:g.43277C>T
NG_008150.2:g.43309C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007194.4:c.855C>T MANE Select	NP_009125.1:p.Ile285=
ENST00000404276.6:c.855C>T MANE Select	ENSP00000385747.1:p.Ile285=
NM_001005735.1:c.984C>T	NP_001005735.1:p.Ile328=
NM_001005735.2:c.984C>T	NP_001005735.1:p.Ile328=
NM_001257387.1:c.192C>T	NP_001244316.1:p.Ile64=
NM_001257387.2:c.192C>T	NP_001244316.1:p.Ile64=
NM_001349956.1:c.654C>T	NP_001336885.1:p.Ile218=
NM_001349956.2:c.654C>T	NP_001336885.1:p.Ile218=
NM_007194.3:c.855C>T	NP_009125.1:p.Ile285=
NM_145862.2:c.855C>T	NP_665861.1:p.Ile285=
ENST00000328354.10:c.855C>T	ENSP00000329178.6:p.Ile285=
ENST00000348295.7:c.855C>T	ENSP00000329012.5:p.Ile285=
ENST00000382580.6:c.984C>T	ENSP00000372023.2:p.Ile328=
ENST00000402731.5:c.855C>T	ENSP00000384835.1:p.Ile285=
ENST00000402731.6:c.654C>T	ENSP00000384835.2:p.Ile218=
ENST00000403642.5:c.582C>T	ENSP00000384919.1:p.Ile194=
ENST00000404276.5:c.855C>T	ENSP00000385747.1:p.Ile285=
ENST00000405598.5:c.855C>T	ENSP00000386087.1:p.Ile285=
ENST00000416671.5:c.*345C>T	ENSP00000402225.1:n.*345C>T
ENST00000417588.5:c.764C>T	ENSP00000412901.1:n.764C>T
ENST00000425190.6:c.192C>T	ENSP00000390244.1:p.Ile64=
ENST00000425190.7:c.192C>T	ENSP00000390244.2:p.Ile64=
ENST00000433028.6:c.*580C>T	ENSP00000403659.1:n.*580C>T
ENST00000433728.5:c.847-3621C>T	ENSP00000404400.1:n.847-3621C>T
ENST00000434810.5:c.86C>T
ENST00000439346.5:c.326C>T	ENSP00000396903.1:n.326C>T
ENST00000439346.6:c.764C>T	ENSP00000396903.2:n.764C>T
ENST00000447421.5:c.654C>T	ENSP00000397478.2:p.Ile218=
ENST00000448511.5:c.745C>T	ENSP00000404567.1:n.745C>T
ENST00000456369.5:c.110C>T
ENST00000464581.5:c.195C>T	ENSP00000483777.1:p.Ile65=
ENST00000464581.6:c.195C>T	ENSP00000483777.2:p.Ile65=
ENST00000491919.5:n.412C>T
ENST00000648295.1:n.407C>T
ENST00000649563.1:c.192C>T	ENSP00000496928.1:p.Ile64=
ENST00000650281.1:c.855C>T	ENSP00000497000.1:p.Ile285=
ENST00000711048.1:c.855C>T	ENSP00000518557.1:p.Ile285=
XM_006724114.2:c.375C>T	XP_006724177.1:p.Ile125=
XM_006724114.3:c.408C>T	XP_006724177.2:p.Ile136=
XM_006724116.2:c.312C>T	XP_006724179.2:p.Ile104=
XM_011529839.1:c.1014C>T	XP_011528141.1:p.Ile338=
XM_011529839.2:c.1014C>T	XP_011528141.1:p.Ile338=
XM_011529840.1:c.1014C>T	XP_011528142.1:p.Ile338=
XM_011529840.3:c.1014C>T	XP_011528142.1:p.Ile338=
XM_011529841.1:c.783C>T	XP_011528143.1:p.Ile261=
XM_011529842.1:c.684C>T	XP_011528144.1:p.Ile228=
XM_011529842.2:c.684C>T	XP_011528144.1:p.Ile228=
XM_011529843.1:c.654C>T	XP_011528145.1:p.Ile218=
XM_011529844.1:c.1014C>T	XP_011528146.1:p.Ile338=
XM_011529844.2:c.1014C>T	XP_011528146.1:p.Ile338=
XM_011529845.1:c.192C>T	XP_011528147.1:p.Ile64=
XM_011529845.2:c.192C>T	XP_011528147.1:p.Ile64=
XM_017028560.1:c.978C>T	XP_016884049.1:p.Ile326=
XM_017028561.2:c.192C>T	XP_016884050.1:p.Ile64=
XM_024452148.1:c.885C>T	XP_024307916.1:p.Ile295=
XM_024452149.1:c.885C>T	XP_024307917.1:p.Ile295=
XR_937805.1:n.1068-3621C>T
XR_937805.2:n.1079-3621C>T
XR_937806.1:n.1063-3621C>T
XR_937806.2:n.1079-3621C>T
XR_937807.1:n.1063-3621C>T
XR_937807.2:n.1079-3621C>T