Canonical Allele Identifier: CA411090963

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28687901A>G , CM000684.2:g.28687901A>G	GRCh38
NC_000022.10:g.29083889A>G , CM000684.1:g.29083889A>G	GRCh37
NC_000022.9:g.27413889A>G	NCBI36
NG_008150.1:g.58934T>C
NG_008150.2:g.58966T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_007194.4:c.1628T>C MANE Select	NP_009125.1:p.Leu543Ser
ENST00000404276.6:c.1628T>C MANE Select	ENSP00000385747.1:p.Leu543Ser
NM_001005735.1:c.1757T>C	NP_001005735.1:p.Leu586Ser
NM_001005735.2:c.1757T>C	NP_001005735.1:p.Leu586Ser
NM_001257387.1:c.965T>C	NP_001244316.1:p.Leu322Ser
NM_001257387.2:c.965T>C	NP_001244316.1:p.Leu322Ser
NM_001349956.1:c.1427T>C	NP_001336885.1:p.Leu476Ser
NM_001349956.2:c.1427T>C	NP_001336885.1:p.Leu476Ser
NM_007194.3:c.1628T>C	NP_009125.1:p.Leu543Ser
NM_145862.2:c.1541T>C	NP_665861.1:p.Leu514Ser
ENST00000328354.10:c.1628T>C	ENSP00000329178.6:p.Leu543Ser
ENST00000348295.7:c.1541T>C	ENSP00000329012.5:p.Leu514Ser
ENST00000382580.6:c.1757T>C	ENSP00000372023.2:p.Leu586Ser
ENST00000402731.5:c.1541T>C	ENSP00000384835.1:p.Leu514Ser
ENST00000402731.6:c.1427T>C	ENSP00000384835.2:p.Leu476Ser
ENST00000403642.5:c.1355T>C	ENSP00000384919.1:p.Leu452Ser
ENST00000404276.5:c.1628T>C	ENSP00000385747.1:p.Leu543Ser
ENST00000405598.5:c.1628T>C	ENSP00000386087.1:p.Leu543Ser
ENST00000416671.5:c.*1118T>C	ENSP00000402225.1:n.*1118T>C
ENST00000417588.5:c.1537T>C	ENSP00000412901.1:n.1537T>C
ENST00000425190.7:c.965T>C	ENSP00000390244.2:p.Leu322Ser
ENST00000433728.5:c.1566T>C	ENSP00000404400.1:n.1566T>C
ENST00000434810.5:c.826T>C
ENST00000448511.5:c.1518T>C	ENSP00000404567.1:n.1518T>C
ENST00000456369.5:c.430T>C
ENST00000464581.6:c.968T>C	ENSP00000483777.2:p.Leu323Ser
ENST00000472807.1:n.362T>C
ENST00000648295.1:n.1180T>C
ENST00000649563.1:c.965T>C	ENSP00000496928.1:p.Leu322Ser
ENST00000650281.1:c.1628T>C	ENSP00000497000.1:p.Leu543Ser
ENST00000711048.1:c.*363T>C	ENSP00000518557.1:n.*363T>C
XM_006724114.2:c.1148T>C	XP_006724177.1:p.Leu383Ser
XM_006724114.3:c.1181T>C	XP_006724177.2:p.Leu394Ser
XM_006724116.2:c.1085T>C	XP_006724179.2:p.Leu362Ser
XM_011529839.1:c.1787T>C	XP_011528141.1:p.Leu596Ser
XM_011529839.2:c.1787T>C	XP_011528141.1:p.Leu596Ser
XM_011529840.1:c.1700T>C	XP_011528142.1:p.Leu567Ser
XM_011529840.3:c.1700T>C	XP_011528142.1:p.Leu567Ser
XM_011529841.1:c.1556T>C	XP_011528143.1:p.Leu519Ser
XM_011529842.1:c.1457T>C	XP_011528144.1:p.Leu486Ser
XM_011529842.2:c.1457T>C	XP_011528144.1:p.Leu486Ser
XM_011529843.1:c.1427T>C	XP_011528145.1:p.Leu476Ser
XM_011529845.1:c.965T>C	XP_011528147.1:p.Leu322Ser
XM_011529845.2:c.965T>C	XP_011528147.1:p.Leu322Ser
XM_017028560.1:c.1751T>C	XP_016884049.1:p.Leu584Ser
XM_017028561.2:c.965T>C	XP_016884050.1:p.Leu322Ser
XM_024452148.1:c.1658T>C	XP_024307916.1:p.Leu553Ser
XM_024452149.1:c.1571T>C	XP_024307917.1:p.Leu524Ser
XR_937805.1:n.1787T>C
XR_937805.2:n.1798T>C