Canonical Allele Identifier: CA411096598

Gene: CHEK2

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695729C>G , CM000684.2:g.28695729C>G	GRCh38
NC_000022.10:g.29091717C>G , CM000684.1:g.29091717C>G	GRCh37
NC_000022.9:g.27421717C>G	NCBI36
NG_008150.1:g.51106G>C
NG_008150.2:g.51138G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-487G>C	ENSP00000518557.1:n.1009-487G>C
ENST00000402731.6:c.1039G>C	ENSP00000384835.2:p.Gly347Arg
ENST00000404276.6:c.1240G>C MANE Select	ENSP00000385747.1:p.Gly414Arg
ENST00000425190.7:c.577G>C	ENSP00000390244.2:p.Gly193Arg
ENST00000464581.6:c.580G>C	ENSP00000483777.2:p.Gly194Arg
ENST00000648295.1:n.792G>C
ENST00000649563.1:c.577G>C	ENSP00000496928.1:p.Gly193Arg
ENST00000650281.1:c.1240G>C	ENSP00000497000.1:p.Gly414Arg
ENST00000328354.10:c.1240G>C	ENSP00000329178.6:p.Gly414Arg
ENST00000348295.7:c.1153G>C	ENSP00000329012.5:p.Gly385Arg
ENST00000382580.6:c.1369G>C	ENSP00000372023.2:p.Gly457Arg
ENST00000402731.5:c.1153G>C	ENSP00000384835.1:p.Gly385Arg
ENST00000403642.5:c.967G>C	ENSP00000384919.1:p.Gly323Arg
ENST00000404276.5:c.1240G>C	ENSP00000385747.1:p.Gly414Arg
ENST00000405598.5:c.1240G>C	ENSP00000386087.1:p.Gly414Arg
ENST00000416671.5:c.*730G>C	ENSP00000402225.1:n.*730G>C
ENST00000417588.5:c.1149G>C	ENSP00000412901.1:n.1149G>C
ENST00000433728.5:c.1178G>C	ENSP00000404400.1:n.1178G>C
ENST00000434810.5:c.471G>C
ENST00000448511.5:c.1130G>C	ENSP00000404567.1:n.1130G>C
ENST00000456369.5:c.263+4109G>C
NM_001005735.1:c.1369G>C	NP_001005735.1:p.Gly457Arg
NM_001257387.1:c.577G>C	NP_001244316.1:p.Gly193Arg
NM_007194.3:c.1240G>C	NP_009125.1:p.Gly414Arg
NM_145862.2:c.1153G>C	NP_665861.1:p.Gly385Arg
XM_006724114.2:c.760G>C	XP_006724177.1:p.Gly254Arg
XM_006724116.2:c.697G>C	XP_006724179.2:p.Gly233Arg
XM_011529839.1:c.1399G>C	XP_011528141.1:p.Gly467Arg
XM_011529840.1:c.1312G>C	XP_011528142.1:p.Gly438Arg
XM_011529841.1:c.1168G>C	XP_011528143.1:p.Gly390Arg
XM_011529842.1:c.1069G>C	XP_011528144.1:p.Gly357Arg
XM_011529843.1:c.1039G>C	XP_011528145.1:p.Gly347Arg
XM_011529845.1:c.577G>C	XP_011528147.1:p.Gly193Arg
XR_937805.1:n.1399G>C
NM_001349956.1:c.1039G>C	NP_001336885.1:p.Gly347Arg
NM_007194.4:c.1240G>C MANE Select	NP_009125.1:p.Gly414Arg
XM_006724114.3:c.793G>C	XP_006724177.2:p.Gly265Arg
XM_011529839.2:c.1399G>C	XP_011528141.1:p.Gly467Arg
XM_011529840.3:c.1312G>C	XP_011528142.1:p.Gly438Arg
XM_011529842.2:c.1069G>C	XP_011528144.1:p.Gly357Arg
XM_011529845.2:c.577G>C	XP_011528147.1:p.Gly193Arg
XM_017028560.1:c.1363G>C	XP_016884049.1:p.Gly455Arg
XM_017028561.2:c.577G>C	XP_016884050.1:p.Gly193Arg
XM_024452148.1:c.1270G>C	XP_024307916.1:p.Gly424Arg
XM_024452149.1:c.1183G>C	XP_024307917.1:p.Gly395Arg
XR_937805.2:n.1410G>C
NM_001005735.2:c.1369G>C	NP_001005735.1:p.Gly457Arg
NM_001257387.2:c.577G>C	NP_001244316.1:p.Gly193Arg
NM_001349956.2:c.1039G>C	NP_001336885.1:p.Gly347Arg