Canonical Allele Identifier: CA411096875

Gene: CHEK2

Linked Data

• dbSNP Id: rs1601722994
• MyVariant Identifiers: chr22:g.29091801C>G (hg19) ; chr22:g.28695813C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695813C>G , CM000684.2:g.28695813C>G	GRCh38
NC_000022.10:g.29091801C>G , CM000684.1:g.29091801C>G	GRCh37
NC_000022.9:g.27421801C>G	NCBI36
NG_008150.1:g.51022G>C
NG_008150.2:g.51054G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-571G>C	ENSP00000518557.1:n.1009-571G>C
ENST00000402731.6:c.955G>C	ENSP00000384835.2:p.Gly319Arg
ENST00000404276.6:c.1156G>C MANE Select	ENSP00000385747.1:p.Gly386Arg
ENST00000425190.7:c.493G>C	ENSP00000390244.2:p.Gly165Arg
ENST00000464581.6:c.496G>C	ENSP00000483777.2:p.Gly166Arg
ENST00000648295.1:n.708G>C
ENST00000649563.1:c.493G>C	ENSP00000496928.1:p.Gly165Arg
ENST00000650281.1:c.1156G>C	ENSP00000497000.1:p.Gly386Arg
ENST00000328354.10:c.1156G>C	ENSP00000329178.6:p.Gly386Arg
ENST00000348295.7:c.1069G>C	ENSP00000329012.5:p.Gly357Arg
ENST00000382580.6:c.1285G>C	ENSP00000372023.2:p.Gly429Arg
ENST00000402731.5:c.1069G>C	ENSP00000384835.1:p.Gly357Arg
ENST00000403642.5:c.883G>C	ENSP00000384919.1:p.Gly295Arg
ENST00000404276.5:c.1156G>C	ENSP00000385747.1:p.Gly386Arg
ENST00000405598.5:c.1156G>C	ENSP00000386087.1:p.Gly386Arg
ENST00000416671.5:c.*646G>C	ENSP00000402225.1:n.*646G>C
ENST00000417588.5:c.1065G>C	ENSP00000412901.1:n.1065G>C
ENST00000433728.5:c.1094G>C	ENSP00000404400.1:n.1094G>C
ENST00000434810.5:c.387G>C
ENST00000448511.5:c.1046G>C	ENSP00000404567.1:n.1046G>C
ENST00000456369.5:c.263+4025G>C
NM_001005735.1:c.1285G>C	NP_001005735.1:p.Gly429Arg
NM_001257387.1:c.493G>C	NP_001244316.1:p.Gly165Arg
NM_007194.3:c.1156G>C	NP_009125.1:p.Gly386Arg
NM_145862.2:c.1069G>C	NP_665861.1:p.Gly357Arg
XM_006724114.2:c.676G>C	XP_006724177.1:p.Gly226Arg
XM_006724116.2:c.613G>C	XP_006724179.2:p.Gly205Arg
XM_011529839.1:c.1315G>C	XP_011528141.1:p.Gly439Arg
XM_011529840.1:c.1228G>C	XP_011528142.1:p.Gly410Arg
XM_011529841.1:c.1084G>C	XP_011528143.1:p.Gly362Arg
XM_011529842.1:c.985G>C	XP_011528144.1:p.Gly329Arg
XM_011529843.1:c.955G>C	XP_011528145.1:p.Gly319Arg
XM_011529845.1:c.493G>C	XP_011528147.1:p.Gly165Arg
XR_937805.1:n.1315G>C
XR_937806.1:n.1223G>C
NM_001349956.1:c.955G>C	NP_001336885.1:p.Gly319Arg
NM_007194.4:c.1156G>C MANE Select	NP_009125.1:p.Gly386Arg
XM_006724114.3:c.709G>C	XP_006724177.2:p.Gly237Arg
XM_011529839.2:c.1315G>C	XP_011528141.1:p.Gly439Arg
XM_011529840.3:c.1228G>C	XP_011528142.1:p.Gly410Arg
XM_011529842.2:c.985G>C	XP_011528144.1:p.Gly329Arg
XM_011529845.2:c.493G>C	XP_011528147.1:p.Gly165Arg
XM_017028560.1:c.1279G>C	XP_016884049.1:p.Gly427Arg
XM_017028561.2:c.493G>C	XP_016884050.1:p.Gly165Arg
XM_024452148.1:c.1186G>C	XP_024307916.1:p.Gly396Arg
XM_024452149.1:c.1099G>C	XP_024307917.1:p.Gly367Arg
XR_937805.2:n.1326G>C
XR_937806.2:n.1239G>C
NM_001005735.2:c.1285G>C	NP_001005735.1:p.Gly429Arg
NM_001257387.2:c.493G>C	NP_001244316.1:p.Gly165Arg
NM_001349956.2:c.955G>C	NP_001336885.1:p.Gly319Arg