Canonical Allele Identifier: CA513944972

Gene: CHEK2

Linked Data

• dbSNP Id: rs1375690221
• gnomAD v3: 22-28696928-T-C
• gnomAD v4: 22-28696928-T-C
• MyVariant Identifiers: chr22:g.29092916T>C (hg19) ; chr22:g.28696928T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696928T>C , CM000684.2:g.28696928T>C	GRCh38
NC_000022.10:g.29092916T>C , CM000684.1:g.29092916T>C	GRCh37
NC_000022.9:g.27422916T>C	NCBI36
NG_008150.1:g.49907A>G
NG_008150.2:g.49939A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1686A>G	ENSP00000518557.1:n.1009-1686A>G
ENST00000402731.6:c.867A>G	ENSP00000384835.2:p.Ser289=
ENST00000404276.6:c.1068A>G MANE Select	ENSP00000385747.1:p.Ser356=
ENST00000425190.7:c.405A>G	ENSP00000390244.2:p.Ser135=
ENST00000464581.6:c.408A>G	ENSP00000483777.2:p.Ser136=
ENST00000648295.1:n.620A>G
ENST00000649563.1:c.405A>G	ENSP00000496928.1:p.Ser135=
ENST00000650281.1:c.1068A>G	ENSP00000497000.1:p.Ser356=
ENST00000328354.10:c.1068A>G	ENSP00000329178.6:p.Ser356=
ENST00000348295.7:c.1009-1055A>G	ENSP00000329012.5:n.1009-1055A>G
ENST00000382580.6:c.1197A>G	ENSP00000372023.2:p.Ser399=
ENST00000402731.5:c.1009-1055A>G	ENSP00000384835.1:n.1009-1055A>G
ENST00000403642.5:c.795A>G	ENSP00000384919.1:p.Ser265=
ENST00000404276.5:c.1068A>G	ENSP00000385747.1:p.Ser356=
ENST00000405598.5:c.1068A>G	ENSP00000386087.1:p.Ser356=
ENST00000416671.5:c.*558A>G	ENSP00000402225.1:n.*558A>G
ENST00000417588.5:c.977A>G	ENSP00000412901.1:n.977A>G
ENST00000433028.6:c.*793A>G	ENSP00000403659.1:n.*793A>G
ENST00000433728.5:c.1006A>G	ENSP00000404400.1:n.1006A>G
ENST00000434810.5:c.299A>G
ENST00000447421.5:c.867A>G	ENSP00000397478.2:p.Ser289=
ENST00000448511.5:c.958A>G	ENSP00000404567.1:n.958A>G
ENST00000456369.5:c.263+2910A>G
ENST00000464581.5:c.408A>G	ENSP00000483777.1:p.Ser136=
NM_001005735.1:c.1197A>G	NP_001005735.1:p.Ser399=
NM_001257387.1:c.405A>G	NP_001244316.1:p.Ser135=
NM_007194.3:c.1068A>G	NP_009125.1:p.Ser356=
NM_145862.2:c.1009-1055A>G	NP_665861.1:n.1009-1055A>G
XM_006724114.2:c.588A>G	XP_006724177.1:p.Ser196=
XM_006724116.2:c.525A>G	XP_006724179.2:p.Ser175=
XM_011529839.1:c.1227A>G	XP_011528141.1:p.Ser409=
XM_011529840.1:c.1168-1055A>G	XP_011528142.1:n.1168-1055A>G
XM_011529841.1:c.996A>G	XP_011528143.1:p.Ser332=
XM_011529842.1:c.897A>G	XP_011528144.1:p.Ser299=
XM_011529843.1:c.867A>G	XP_011528145.1:p.Ser289=
XM_011529845.1:c.405A>G	XP_011528147.1:p.Ser135=
XR_937805.1:n.1227A>G
XR_937806.1:n.1163-1055A>G
NM_001349956.1:c.867A>G	NP_001336885.1:p.Ser289=
NM_007194.4:c.1068A>G MANE Select	NP_009125.1:p.Ser356=
XM_006724114.3:c.621A>G	XP_006724177.2:p.Ser207=
XM_011529839.2:c.1227A>G	XP_011528141.1:p.Ser409=
XM_011529840.3:c.1168-1055A>G	XP_011528142.1:n.1168-1055A>G
XM_011529842.2:c.897A>G	XP_011528144.1:p.Ser299=
XM_011529845.2:c.405A>G	XP_011528147.1:p.Ser135=
XM_017028560.1:c.1191A>G	XP_016884049.1:p.Ser397=
XM_017028561.2:c.405A>G	XP_016884050.1:p.Ser135=
XM_024452148.1:c.1098A>G	XP_024307916.1:p.Ser366=
XM_024452149.1:c.1039-1055A>G	XP_024307917.1:n.1039-1055A>G
XR_937805.2:n.1238A>G
XR_937806.2:n.1179-1055A>G
NM_001005735.2:c.1197A>G	NP_001005735.1:p.Ser399=
NM_001257387.2:c.405A>G	NP_001244316.1:p.Ser135=
NM_001349956.2:c.867A>G	NP_001336885.1:p.Ser289=