Canonical Allele Identifier: CA411097492

Gene: CHEK2

Linked Data

• dbSNP Id: rs767306337
• MyVariant Identifiers: chr22:g.29092899C>G (hg19) ; chr22:g.28696911C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696911C>G , CM000684.2:g.28696911C>G	GRCh38
NC_000022.10:g.29092899C>G , CM000684.1:g.29092899C>G	GRCh37
NC_000022.9:g.27422899C>G	NCBI36
NG_008150.1:g.49924G>C
NG_008150.2:g.49956G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1669G>C	ENSP00000518557.1:n.1009-1669G>C
ENST00000402731.6:c.884G>C	ENSP00000384835.2:p.Cys295Ser
ENST00000404276.6:c.1085G>C MANE Select	ENSP00000385747.1:p.Cys362Ser
ENST00000425190.7:c.422G>C	ENSP00000390244.2:p.Cys141Ser
ENST00000464581.6:c.425G>C	ENSP00000483777.2:p.Cys142Ser
ENST00000648295.1:n.637G>C
ENST00000649563.1:c.422G>C	ENSP00000496928.1:p.Cys141Ser
ENST00000650281.1:c.1085G>C	ENSP00000497000.1:p.Cys362Ser
ENST00000328354.10:c.1085G>C	ENSP00000329178.6:p.Cys362Ser
ENST00000348295.7:c.1009-1038G>C	ENSP00000329012.5:n.1009-1038G>C
ENST00000382580.6:c.1214G>C	ENSP00000372023.2:p.Cys405Ser
ENST00000402731.5:c.1009-1038G>C	ENSP00000384835.1:n.1009-1038G>C
ENST00000403642.5:c.812G>C	ENSP00000384919.1:p.Cys271Ser
ENST00000404276.5:c.1085G>C	ENSP00000385747.1:p.Cys362Ser
ENST00000405598.5:c.1085G>C	ENSP00000386087.1:p.Cys362Ser
ENST00000416671.5:c.*575G>C	ENSP00000402225.1:n.*575G>C
ENST00000417588.5:c.994G>C	ENSP00000412901.1:n.994G>C
ENST00000433028.6:c.*810G>C	ENSP00000403659.1:n.*810G>C
ENST00000433728.5:c.1023G>C	ENSP00000404400.1:n.1023G>C
ENST00000434810.5:c.316G>C
ENST00000447421.5:c.884G>C	ENSP00000397478.2:p.Cys295Ser
ENST00000448511.5:c.975G>C	ENSP00000404567.1:n.975G>C
ENST00000456369.5:c.263+2927G>C
NM_001005735.1:c.1214G>C	NP_001005735.1:p.Cys405Ser
NM_001257387.1:c.422G>C	NP_001244316.1:p.Cys141Ser
NM_007194.3:c.1085G>C	NP_009125.1:p.Cys362Ser
NM_145862.2:c.1009-1038G>C	NP_665861.1:n.1009-1038G>C
XM_006724114.2:c.605G>C	XP_006724177.1:p.Cys202Ser
XM_006724116.2:c.542G>C	XP_006724179.2:p.Cys181Ser
XM_011529839.1:c.1244G>C	XP_011528141.1:p.Cys415Ser
XM_011529840.1:c.1168-1038G>C	XP_011528142.1:n.1168-1038G>C
XM_011529841.1:c.1013G>C	XP_011528143.1:p.Cys338Ser
XM_011529842.1:c.914G>C	XP_011528144.1:p.Cys305Ser
XM_011529843.1:c.884G>C	XP_011528145.1:p.Cys295Ser
XM_011529845.1:c.422G>C	XP_011528147.1:p.Cys141Ser
XR_937805.1:n.1244G>C
XR_937806.1:n.1163-1038G>C
NM_001349956.1:c.884G>C	NP_001336885.1:p.Cys295Ser
NM_007194.4:c.1085G>C MANE Select	NP_009125.1:p.Cys362Ser
XM_006724114.3:c.638G>C	XP_006724177.2:p.Cys213Ser
XM_011529839.2:c.1244G>C	XP_011528141.1:p.Cys415Ser
XM_011529840.3:c.1168-1038G>C	XP_011528142.1:n.1168-1038G>C
XM_011529842.2:c.914G>C	XP_011528144.1:p.Cys305Ser
XM_011529845.2:c.422G>C	XP_011528147.1:p.Cys141Ser
XM_017028560.1:c.1208G>C	XP_016884049.1:p.Cys403Ser
XM_017028561.2:c.422G>C	XP_016884050.1:p.Cys141Ser
XM_024452148.1:c.1115G>C	XP_024307916.1:p.Cys372Ser
XM_024452149.1:c.1039-1038G>C	XP_024307917.1:n.1039-1038G>C
XR_937805.2:n.1255G>C
XR_937806.2:n.1179-1038G>C
NM_001005735.2:c.1214G>C	NP_001005735.1:p.Cys405Ser
NM_001257387.2:c.422G>C	NP_001244316.1:p.Cys141Ser
NM_001349956.2:c.884G>C	NP_001336885.1:p.Cys295Ser