Canonical Allele Identifier: CA513945035

Gene: CHEK2

Linked Data

• dbSNP Id: rs1310156280
• MyVariant Identifiers: chr22:g.29095877C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699889C>G , CM000684.2:g.28699889C>G	GRCh38
NC_000022.10:g.29095877C>G , CM000684.1:g.29095877C>G	GRCh37
NC_000022.9:g.27425877C>G	NCBI36
NG_008150.1:g.46946G>C
NG_008150.2:g.46978G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.866G>C	ENSP00000396903.2:n.866G>C
ENST00000711048.1:c.957G>C	ENSP00000518557.1:p.Leu319=
ENST00000402731.6:c.756G>C	ENSP00000384835.2:p.Leu252=
ENST00000404276.6:c.957G>C MANE Select	ENSP00000385747.1:p.Leu319=
ENST00000425190.7:c.294G>C	ENSP00000390244.2:p.Leu98=
ENST00000464581.6:c.297G>C	ENSP00000483777.2:p.Leu99=
ENST00000648295.1:n.509G>C
ENST00000649563.1:c.294G>C	ENSP00000496928.1:p.Leu98=
ENST00000650281.1:c.957G>C	ENSP00000497000.1:p.Leu319=
ENST00000328354.10:c.957G>C	ENSP00000329178.6:p.Leu319=
ENST00000348295.7:c.957G>C	ENSP00000329012.5:p.Leu319=
ENST00000382580.6:c.1086G>C	ENSP00000372023.2:p.Leu362=
ENST00000402731.5:c.957G>C	ENSP00000384835.1:p.Leu319=
ENST00000403642.5:c.684G>C	ENSP00000384919.1:p.Leu228=
ENST00000404276.5:c.957G>C	ENSP00000385747.1:p.Leu319=
ENST00000405598.5:c.957G>C	ENSP00000386087.1:p.Leu319=
ENST00000416671.5:c.*447G>C	ENSP00000402225.1:n.*447G>C
ENST00000417588.5:c.866G>C	ENSP00000412901.1:n.866G>C
ENST00000425190.6:c.294G>C	ENSP00000390244.1:p.Leu98=
ENST00000433028.6:c.*682G>C	ENSP00000403659.1:n.*682G>C
ENST00000433728.5:c.895G>C	ENSP00000404400.1:n.895G>C
ENST00000434810.5:c.188G>C
ENST00000439346.5:c.428G>C	ENSP00000396903.1:n.428G>C
ENST00000447421.5:c.756G>C	ENSP00000397478.2:p.Leu252=
ENST00000448511.5:c.847G>C	ENSP00000404567.1:n.847G>C
ENST00000456369.5:c.212G>C
ENST00000464581.5:c.297G>C	ENSP00000483777.1:p.Leu99=
ENST00000491919.5:n.514G>C
NM_001005735.1:c.1086G>C	NP_001005735.1:p.Leu362=
NM_001257387.1:c.294G>C	NP_001244316.1:p.Leu98=
NM_007194.3:c.957G>C	NP_009125.1:p.Leu319=
NM_145862.2:c.957G>C	NP_665861.1:p.Leu319=
XM_006724114.2:c.477G>C	XP_006724177.1:p.Leu159=
XM_006724116.2:c.414G>C	XP_006724179.2:p.Leu138=
XM_011529839.1:c.1116G>C	XP_011528141.1:p.Leu372=
XM_011529840.1:c.1116G>C	XP_011528142.1:p.Leu372=
XM_011529841.1:c.885G>C	XP_011528143.1:p.Leu295=
XM_011529842.1:c.786G>C	XP_011528144.1:p.Leu262=
XM_011529843.1:c.756G>C	XP_011528145.1:p.Leu252=
XM_011529844.1:c.1116G>C	XP_011528146.1:p.Leu372=
XM_011529845.1:c.294G>C	XP_011528147.1:p.Leu98=
XR_937805.1:n.1116G>C
XR_937806.1:n.1111G>C
XR_937807.1:n.1111G>C
NM_001349956.1:c.756G>C	NP_001336885.1:p.Leu252=
NM_007194.4:c.957G>C MANE Select	NP_009125.1:p.Leu319=
XM_006724114.3:c.510G>C	XP_006724177.2:p.Leu170=
XM_011529839.2:c.1116G>C	XP_011528141.1:p.Leu372=
XM_011529840.3:c.1116G>C	XP_011528142.1:p.Leu372=
XM_011529842.2:c.786G>C	XP_011528144.1:p.Leu262=
XM_011529844.2:c.1116G>C	XP_011528146.1:p.Leu372=
XM_011529845.2:c.294G>C	XP_011528147.1:p.Leu98=
XM_017028560.1:c.1080G>C	XP_016884049.1:p.Leu360=
XM_017028561.2:c.294G>C	XP_016884050.1:p.Leu98=
XM_024452148.1:c.987G>C	XP_024307916.1:p.Leu329=
XM_024452149.1:c.987G>C	XP_024307917.1:p.Leu329=
XR_937805.2:n.1127G>C
XR_937806.2:n.1127G>C
XR_937807.2:n.1127G>C
NM_001005735.2:c.1086G>C	NP_001005735.1:p.Leu362=
NM_001257387.2:c.294G>C	NP_001244316.1:p.Leu98=
NM_001349956.2:c.756G>C	NP_001336885.1:p.Leu252=