Canonical Allele Identifier: CA513945154

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28711909T>C , CM000684.2:g.28711909T>C	GRCh38
NC_000022.10:g.29107897T>C , CM000684.1:g.29107897T>C	GRCh37
NC_000022.9:g.27437897T>C	NCBI36
NG_008150.1:g.34926A>G
NG_008150.2:g.34958A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_007194.4:c.792A>G MANE Select	NP_009125.1:p.Ala264=
ENST00000404276.6:c.792A>G MANE Select	ENSP00000385747.1:p.Ala264=
NM_001005735.1:c.921A>G	NP_001005735.1:p.Ala307=
NM_001005735.2:c.921A>G	NP_001005735.1:p.Ala307=
NM_001257387.1:c.129A>G	NP_001244316.1:p.Ala43=
NM_001257387.2:c.129A>G	NP_001244316.1:p.Ala43=
NM_001349956.1:c.591A>G	NP_001336885.1:p.Ala197=
NM_001349956.2:c.591A>G	NP_001336885.1:p.Ala197=
NM_007194.3:c.792A>G	NP_009125.1:p.Ala264=
NM_145862.2:c.792A>G	NP_665861.1:p.Ala264=
ENST00000328354.10:c.792A>G	ENSP00000329178.6:p.Ala264=
ENST00000348295.7:c.792A>G	ENSP00000329012.5:p.Ala264=
ENST00000382580.6:c.921A>G	ENSP00000372023.2:p.Ala307=
ENST00000402731.5:c.792A>G	ENSP00000384835.1:p.Ala264=
ENST00000402731.6:c.591A>G	ENSP00000384835.2:p.Ala197=
ENST00000403642.5:c.519A>G	ENSP00000384919.1:p.Ala173=
ENST00000404276.5:c.792A>G	ENSP00000385747.1:p.Ala264=
ENST00000405598.5:c.792A>G	ENSP00000386087.1:p.Ala264=
ENST00000416671.5:c.*282A>G	ENSP00000402225.1:n.*282A>G
ENST00000417588.5:c.701A>G	ENSP00000412901.1:n.701A>G
ENST00000425190.6:c.129A>G	ENSP00000390244.1:p.Ala43=
ENST00000425190.7:c.129A>G	ENSP00000390244.2:p.Ala43=
ENST00000433028.6:c.*517A>G	ENSP00000403659.1:n.*517A>G
ENST00000433728.5:c.792A>G	ENSP00000404400.1:p.Ala264=
ENST00000434810.5:c.23A>G
ENST00000439200.5:c.885A>G	ENSP00000408065.1:p.Ala295=
ENST00000439346.5:c.263A>G	ENSP00000396903.1:n.263A>G
ENST00000439346.6:c.701A>G	ENSP00000396903.2:n.701A>G
ENST00000447421.5:c.591A>G	ENSP00000397478.2:p.Ala197=
ENST00000448511.5:c.682A>G	ENSP00000404567.1:n.682A>G
ENST00000456369.5:c.47A>G
ENST00000464581.5:c.132A>G	ENSP00000483777.1:p.Ala44=
ENST00000464581.6:c.132A>G	ENSP00000483777.2:p.Ala44=
ENST00000491919.5:n.349A>G
ENST00000648295.1:n.344A>G
ENST00000649563.1:c.129A>G	ENSP00000496928.1:p.Ala43=
ENST00000650281.1:c.792A>G	ENSP00000497000.1:p.Ala264=
ENST00000711048.1:c.792A>G	ENSP00000518557.1:p.Ala264=
XM_006724114.2:c.312A>G	XP_006724177.1:p.Ala104=
XM_006724114.3:c.345A>G	XP_006724177.2:p.Ala115=
XM_006724116.2:c.249A>G	XP_006724179.2:p.Ala83=
XM_011529839.1:c.951A>G	XP_011528141.1:p.Ala317=
XM_011529839.2:c.951A>G	XP_011528141.1:p.Ala317=
XM_011529840.1:c.951A>G	XP_011528142.1:p.Ala317=
XM_011529840.3:c.951A>G	XP_011528142.1:p.Ala317=
XM_011529841.1:c.720A>G	XP_011528143.1:p.Ala240=
XM_011529842.1:c.621A>G	XP_011528144.1:p.Ala207=
XM_011529842.2:c.621A>G	XP_011528144.1:p.Ala207=
XM_011529843.1:c.591A>G	XP_011528145.1:p.Ala197=
XM_011529844.1:c.951A>G	XP_011528146.1:p.Ala317=
XM_011529844.2:c.951A>G	XP_011528146.1:p.Ala317=
XM_011529845.1:c.129A>G	XP_011528147.1:p.Ala43=
XM_011529845.2:c.129A>G	XP_011528147.1:p.Ala43=
XM_017028560.1:c.915A>G	XP_016884049.1:p.Ala305=
XM_017028561.2:c.129A>G	XP_016884050.1:p.Ala43=
XM_024452148.1:c.822A>G	XP_024307916.1:p.Ala274=
XM_024452149.1:c.822A>G	XP_024307917.1:p.Ala274=
XR_937805.1:n.1013A>G
XR_937805.2:n.1024A>G
XR_937806.1:n.1008A>G
XR_937806.2:n.1024A>G
XR_937807.1:n.1008A>G
XR_937807.2:n.1024A>G