Canonical Allele Identifier: CA294442

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28689151G>A , CM000684.2:g.28689151G>A	GRCh38
NC_000022.10:g.29085139G>A , CM000684.1:g.29085139G>A	GRCh37
NC_000022.9:g.27415139G>A	NCBI36
NG_008150.1:g.57684C>T
NG_008150.2:g.57716C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*261C>T	ENSP00000518557.1:n.*261C>T
ENST00000402731.6:c.1325C>T	ENSP00000384835.2:p.Pro442Leu
ENST00000404276.6:c.1526C>T MANE Select	ENSP00000385747.1:p.Pro509Leu
ENST00000425190.7:c.863C>T	ENSP00000390244.2:p.Pro288Leu
ENST00000464581.6:c.866C>T	ENSP00000483777.2:p.Pro289Leu
ENST00000648295.1:n.1078C>T
ENST00000649563.1:c.863C>T	ENSP00000496928.1:p.Pro288Leu
ENST00000650281.1:c.1526C>T	ENSP00000497000.1:p.Pro509Leu
ENST00000328354.10:c.1526C>T	ENSP00000329178.6:p.Pro509Leu
ENST00000348295.7:c.1439C>T	ENSP00000329012.5:p.Pro480Leu
ENST00000382580.6:c.1655C>T	ENSP00000372023.2:p.Pro552Leu
ENST00000402731.5:c.1439C>T	ENSP00000384835.1:p.Pro480Leu
ENST00000403642.5:c.1253C>T	ENSP00000384919.1:p.Pro418Leu
ENST00000404276.5:c.1526C>T	ENSP00000385747.1:p.Pro509Leu
ENST00000405598.5:c.1526C>T	ENSP00000386087.1:p.Pro509Leu
ENST00000416671.5:c.*1016C>T	ENSP00000402225.1:n.*1016C>T
ENST00000417588.5:c.1435C>T	ENSP00000412901.1:n.1435C>T
ENST00000433728.5:c.1464C>T	ENSP00000404400.1:n.1464C>T
ENST00000434810.5:c.724C>T
ENST00000448511.5:c.1416C>T	ENSP00000404567.1:n.1416C>T
ENST00000456369.5:c.328C>T
ENST00000472807.1:n.260C>T
NM_001005735.1:c.1655C>T	NP_001005735.1:p.Pro552Leu
NM_001257387.1:c.863C>T	NP_001244316.1:p.Pro288Leu
NM_007194.3:c.1526C>T	NP_009125.1:p.Pro509Leu
NM_145862.2:c.1439C>T	NP_665861.1:p.Pro480Leu
XM_006724114.2:c.1046C>T	XP_006724177.1:p.Pro349Leu
XM_006724116.2:c.983C>T	XP_006724179.2:p.Pro328Leu
XM_011529839.1:c.1685C>T	XP_011528141.1:p.Pro562Leu
XM_011529840.1:c.1598C>T	XP_011528142.1:p.Pro533Leu
XM_011529841.1:c.1454C>T	XP_011528143.1:p.Pro485Leu
XM_011529842.1:c.1355C>T	XP_011528144.1:p.Pro452Leu
XM_011529843.1:c.1325C>T	XP_011528145.1:p.Pro442Leu
XM_011529845.1:c.863C>T	XP_011528147.1:p.Pro288Leu
XR_937805.1:n.1685C>T
NM_001349956.1:c.1325C>T	NP_001336885.1:p.Pro442Leu
NM_007194.4:c.1526C>T MANE Select	NP_009125.1:p.Pro509Leu
XM_006724114.3:c.1079C>T	XP_006724177.2:p.Pro360Leu
XM_011529839.2:c.1685C>T	XP_011528141.1:p.Pro562Leu
XM_011529840.3:c.1598C>T	XP_011528142.1:p.Pro533Leu
XM_011529842.2:c.1355C>T	XP_011528144.1:p.Pro452Leu
XM_011529845.2:c.863C>T	XP_011528147.1:p.Pro288Leu
XM_017028560.1:c.1649C>T	XP_016884049.1:p.Pro550Leu
XM_017028561.2:c.863C>T	XP_016884050.1:p.Pro288Leu
XM_024452148.1:c.1556C>T	XP_024307916.1:p.Pro519Leu
XM_024452149.1:c.1469C>T	XP_024307917.1:p.Pro490Leu
XR_937805.2:n.1696C>T
NM_001005735.2:c.1655C>T	NP_001005735.1:p.Pro552Leu
NM_001257387.2:c.863C>T	NP_001244316.1:p.Pro288Leu
NM_001349956.2:c.1325C>T	NP_001336885.1:p.Pro442Leu