Canonical Allele Identifier: CA513944966

Gene: CHEK2

Linked Data

• MyVariant Identifiers: chr22:g.29092910T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696922T>C , CM000684.2:g.28696922T>C	GRCh38
NC_000022.10:g.29092910T>C , CM000684.1:g.29092910T>C	GRCh37
NC_000022.9:g.27422910T>C	NCBI36
NG_008150.1:g.49913A>G
NG_008150.2:g.49945A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1680A>G	ENSP00000518557.1:n.1009-1680A>G
ENST00000402731.6:c.873A>G	ENSP00000384835.2:p.Gln291=
ENST00000404276.6:c.1074A>G MANE Select	ENSP00000385747.1:p.Gln358=
ENST00000425190.7:c.411A>G	ENSP00000390244.2:p.Gln137=
ENST00000464581.6:c.414A>G	ENSP00000483777.2:p.Gln138=
ENST00000648295.1:n.626A>G
ENST00000649563.1:c.411A>G	ENSP00000496928.1:p.Gln137=
ENST00000650281.1:c.1074A>G	ENSP00000497000.1:p.Gln358=
ENST00000328354.10:c.1074A>G	ENSP00000329178.6:p.Gln358=
ENST00000348295.7:c.1009-1049A>G	ENSP00000329012.5:n.1009-1049A>G
ENST00000382580.6:c.1203A>G	ENSP00000372023.2:p.Gln401=
ENST00000402731.5:c.1009-1049A>G	ENSP00000384835.1:n.1009-1049A>G
ENST00000403642.5:c.801A>G	ENSP00000384919.1:p.Gln267=
ENST00000404276.5:c.1074A>G	ENSP00000385747.1:p.Gln358=
ENST00000405598.5:c.1074A>G	ENSP00000386087.1:p.Gln358=
ENST00000416671.5:c.*564A>G	ENSP00000402225.1:n.*564A>G
ENST00000417588.5:c.983A>G	ENSP00000412901.1:n.983A>G
ENST00000433028.6:c.*799A>G	ENSP00000403659.1:n.*799A>G
ENST00000433728.5:c.1012A>G	ENSP00000404400.1:n.1012A>G
ENST00000434810.5:c.305A>G
ENST00000447421.5:c.873A>G	ENSP00000397478.2:p.Gln291=
ENST00000448511.5:c.964A>G	ENSP00000404567.1:n.964A>G
ENST00000456369.5:c.263+2916A>G
NM_001005735.1:c.1203A>G	NP_001005735.1:p.Gln401=
NM_001257387.1:c.411A>G	NP_001244316.1:p.Gln137=
NM_007194.3:c.1074A>G	NP_009125.1:p.Gln358=
NM_145862.2:c.1009-1049A>G	NP_665861.1:n.1009-1049A>G
XM_006724114.2:c.594A>G	XP_006724177.1:p.Gln198=
XM_006724116.2:c.531A>G	XP_006724179.2:p.Gln177=
XM_011529839.1:c.1233A>G	XP_011528141.1:p.Gln411=
XM_011529840.1:c.1168-1049A>G	XP_011528142.1:n.1168-1049A>G
XM_011529841.1:c.1002A>G	XP_011528143.1:p.Gln334=
XM_011529842.1:c.903A>G	XP_011528144.1:p.Gln301=
XM_011529843.1:c.873A>G	XP_011528145.1:p.Gln291=
XM_011529845.1:c.411A>G	XP_011528147.1:p.Gln137=
XR_937805.1:n.1233A>G
XR_937806.1:n.1163-1049A>G
NM_001349956.1:c.873A>G	NP_001336885.1:p.Gln291=
NM_007194.4:c.1074A>G MANE Select	NP_009125.1:p.Gln358=
XM_006724114.3:c.627A>G	XP_006724177.2:p.Gln209=
XM_011529839.2:c.1233A>G	XP_011528141.1:p.Gln411=
XM_011529840.3:c.1168-1049A>G	XP_011528142.1:n.1168-1049A>G
XM_011529842.2:c.903A>G	XP_011528144.1:p.Gln301=
XM_011529845.2:c.411A>G	XP_011528147.1:p.Gln137=
XM_017028560.1:c.1197A>G	XP_016884049.1:p.Gln399=
XM_017028561.2:c.411A>G	XP_016884050.1:p.Gln137=
XM_024452148.1:c.1104A>G	XP_024307916.1:p.Gln368=
XM_024452149.1:c.1039-1049A>G	XP_024307917.1:n.1039-1049A>G
XR_937805.2:n.1244A>G
XR_937806.2:n.1179-1049A>G
NM_001005735.2:c.1203A>G	NP_001005735.1:p.Gln401=
NM_001257387.2:c.411A>G	NP_001244316.1:p.Gln137=
NM_001349956.2:c.873A>G	NP_001336885.1:p.Gln291=