Canonical Allele Identifier: CA411092588

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28689198T>G , CM000684.2:g.28689198T>G	GRCh38
NC_000022.10:g.29085186T>G , CM000684.1:g.29085186T>G	GRCh37
NC_000022.9:g.27415186T>G	NCBI36
NG_008150.1:g.57637A>C
NG_008150.2:g.57669A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_007194.4:c.1479A>C MANE Select	NP_009125.1:p.Arg493Ser
ENST00000404276.6:c.1479A>C MANE Select	ENSP00000385747.1:p.Arg493Ser
NM_001005735.1:c.1608A>C	NP_001005735.1:p.Arg536Ser
NM_001005735.2:c.1608A>C	NP_001005735.1:p.Arg536Ser
NM_001257387.1:c.816A>C	NP_001244316.1:p.Arg272Ser
NM_001257387.2:c.816A>C	NP_001244316.1:p.Arg272Ser
NM_001349956.1:c.1278A>C	NP_001336885.1:p.Arg426Ser
NM_001349956.2:c.1278A>C	NP_001336885.1:p.Arg426Ser
NM_007194.3:c.1479A>C	NP_009125.1:p.Arg493Ser
NM_145862.2:c.1392A>C	NP_665861.1:p.Arg464Ser
ENST00000328354.10:c.1479A>C	ENSP00000329178.6:p.Arg493Ser
ENST00000348295.7:c.1392A>C	ENSP00000329012.5:p.Arg464Ser
ENST00000382580.6:c.1608A>C	ENSP00000372023.2:p.Arg536Ser
ENST00000402731.5:c.1392A>C	ENSP00000384835.1:p.Arg464Ser
ENST00000402731.6:c.1278A>C	ENSP00000384835.2:p.Arg426Ser
ENST00000403642.5:c.1206A>C	ENSP00000384919.1:p.Arg402Ser
ENST00000404276.5:c.1479A>C	ENSP00000385747.1:p.Arg493Ser
ENST00000405598.5:c.1479A>C	ENSP00000386087.1:p.Arg493Ser
ENST00000416671.5:c.*969A>C	ENSP00000402225.1:n.*969A>C
ENST00000417588.5:c.1388A>C	ENSP00000412901.1:n.1388A>C
ENST00000425190.7:c.816A>C	ENSP00000390244.2:p.Arg272Ser
ENST00000433728.5:c.1417A>C	ENSP00000404400.1:n.1417A>C
ENST00000434810.5:c.677A>C
ENST00000448511.5:c.1369A>C	ENSP00000404567.1:n.1369A>C
ENST00000456369.5:c.281A>C
ENST00000464581.6:c.819A>C	ENSP00000483777.2:p.Arg273Ser
ENST00000472807.1:n.213A>C
ENST00000648295.1:n.1031A>C
ENST00000649563.1:c.816A>C	ENSP00000496928.1:p.Arg272Ser
ENST00000650281.1:c.1479A>C	ENSP00000497000.1:p.Arg493Ser
ENST00000711048.1:c.*214A>C	ENSP00000518557.1:n.*214A>C
XM_006724114.2:c.999A>C	XP_006724177.1:p.Arg333Ser
XM_006724114.3:c.1032A>C	XP_006724177.2:p.Arg344Ser
XM_006724116.2:c.936A>C	XP_006724179.2:p.Arg312Ser
XM_011529839.1:c.1638A>C	XP_011528141.1:p.Arg546Ser
XM_011529839.2:c.1638A>C	XP_011528141.1:p.Arg546Ser
XM_011529840.1:c.1551A>C	XP_011528142.1:p.Arg517Ser
XM_011529840.3:c.1551A>C	XP_011528142.1:p.Arg517Ser
XM_011529841.1:c.1407A>C	XP_011528143.1:p.Arg469Ser
XM_011529842.1:c.1308A>C	XP_011528144.1:p.Arg436Ser
XM_011529842.2:c.1308A>C	XP_011528144.1:p.Arg436Ser
XM_011529843.1:c.1278A>C	XP_011528145.1:p.Arg426Ser
XM_011529845.1:c.816A>C	XP_011528147.1:p.Arg272Ser
XM_011529845.2:c.816A>C	XP_011528147.1:p.Arg272Ser
XM_017028560.1:c.1602A>C	XP_016884049.1:p.Arg534Ser
XM_017028561.2:c.816A>C	XP_016884050.1:p.Arg272Ser
XM_024452148.1:c.1509A>C	XP_024307916.1:p.Arg503Ser
XM_024452149.1:c.1422A>C	XP_024307917.1:p.Arg474Ser
XR_937805.1:n.1638A>C
XR_937805.2:n.1649A>C