Canonical Allele Identifier: CA288286

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28689207G>T , CM000684.2:g.28689207G>T	GRCh38
NC_000022.10:g.29085195G>T , CM000684.1:g.29085195G>T	GRCh37
NC_000022.9:g.27415195G>T	NCBI36
NG_008150.1:g.57628C>A
NG_008150.2:g.57660C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007194.4:c.1470C>A MANE Select	NP_009125.1:p.Asp490Glu
ENST00000404276.6:c.1470C>A MANE Select	ENSP00000385747.1:p.Asp490Glu
NM_001005735.1:c.1599C>A	NP_001005735.1:p.Asp533Glu
NM_001005735.2:c.1599C>A	NP_001005735.1:p.Asp533Glu
NM_001257387.1:c.807C>A	NP_001244316.1:p.Asp269Glu
NM_001257387.2:c.807C>A	NP_001244316.1:p.Asp269Glu
NM_001349956.1:c.1269C>A	NP_001336885.1:p.Asp423Glu
NM_001349956.2:c.1269C>A	NP_001336885.1:p.Asp423Glu
NM_007194.3:c.1470C>A	NP_009125.1:p.Asp490Glu
NM_145862.2:c.1383C>A	NP_665861.1:p.Asp461Glu
ENST00000328354.10:c.1470C>A	ENSP00000329178.6:p.Asp490Glu
ENST00000348295.7:c.1383C>A	ENSP00000329012.5:p.Asp461Glu
ENST00000382580.6:c.1599C>A	ENSP00000372023.2:p.Asp533Glu
ENST00000402731.5:c.1383C>A	ENSP00000384835.1:p.Asp461Glu
ENST00000402731.6:c.1269C>A	ENSP00000384835.2:p.Asp423Glu
ENST00000403642.5:c.1197C>A	ENSP00000384919.1:p.Asp399Glu
ENST00000404276.5:c.1470C>A	ENSP00000385747.1:p.Asp490Glu
ENST00000405598.5:c.1470C>A	ENSP00000386087.1:p.Asp490Glu
ENST00000416671.5:c.*960C>A	ENSP00000402225.1:n.*960C>A
ENST00000417588.5:c.1379C>A	ENSP00000412901.1:n.1379C>A
ENST00000425190.7:c.807C>A	ENSP00000390244.2:p.Asp269Glu
ENST00000433728.5:c.1408C>A	ENSP00000404400.1:n.1408C>A
ENST00000434810.5:c.668C>A
ENST00000448511.5:c.1360C>A	ENSP00000404567.1:n.1360C>A
ENST00000456369.5:c.272C>A
ENST00000464581.6:c.810C>A	ENSP00000483777.2:p.Asp270Glu
ENST00000472807.1:n.204C>A
ENST00000648295.1:n.1022C>A
ENST00000649563.1:c.807C>A	ENSP00000496928.1:p.Asp269Glu
ENST00000650281.1:c.1470C>A	ENSP00000497000.1:p.Asp490Glu
ENST00000711048.1:c.*205C>A	ENSP00000518557.1:n.*205C>A
XM_006724114.2:c.990C>A	XP_006724177.1:p.Asp330Glu
XM_006724114.3:c.1023C>A	XP_006724177.2:p.Asp341Glu
XM_006724116.2:c.927C>A	XP_006724179.2:p.Asp309Glu
XM_011529839.1:c.1629C>A	XP_011528141.1:p.Asp543Glu
XM_011529839.2:c.1629C>A	XP_011528141.1:p.Asp543Glu
XM_011529840.1:c.1542C>A	XP_011528142.1:p.Asp514Glu
XM_011529840.3:c.1542C>A	XP_011528142.1:p.Asp514Glu
XM_011529841.1:c.1398C>A	XP_011528143.1:p.Asp466Glu
XM_011529842.1:c.1299C>A	XP_011528144.1:p.Asp433Glu
XM_011529842.2:c.1299C>A	XP_011528144.1:p.Asp433Glu
XM_011529843.1:c.1269C>A	XP_011528145.1:p.Asp423Glu
XM_011529845.1:c.807C>A	XP_011528147.1:p.Asp269Glu
XM_011529845.2:c.807C>A	XP_011528147.1:p.Asp269Glu
XM_017028560.1:c.1593C>A	XP_016884049.1:p.Asp531Glu
XM_017028561.2:c.807C>A	XP_016884050.1:p.Asp269Glu
XM_024452148.1:c.1500C>A	XP_024307916.1:p.Asp500Glu
XM_024452149.1:c.1413C>A	XP_024307917.1:p.Asp471Glu
XR_937805.1:n.1629C>A
XR_937805.2:n.1640C>A