Canonical Allele Identifier: CA411097781

Gene: CHEK2

Linked Data

• dbSNP Id: rs1555914358
• MyVariant Identifiers: chr22:g.29092959C>G (hg19) ; chr22:g.28696971C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696971C>G , CM000684.2:g.28696971C>G	GRCh38
NC_000022.10:g.29092959C>G , CM000684.1:g.29092959C>G	GRCh37
NC_000022.9:g.27422959C>G	NCBI36
NG_008150.1:g.49864G>C
NG_008150.2:g.49896G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1729G>C	ENSP00000518557.1:n.1009-1729G>C
ENST00000402731.6:c.824G>C	ENSP00000384835.2:p.Gly275Ala
ENST00000404276.6:c.1025G>C MANE Select	ENSP00000385747.1:p.Gly342Ala
ENST00000425190.7:c.362G>C	ENSP00000390244.2:p.Gly121Ala
ENST00000464581.6:c.365G>C	ENSP00000483777.2:p.Gly122Ala
ENST00000648295.1:n.577G>C
ENST00000649563.1:c.362G>C	ENSP00000496928.1:p.Gly121Ala
ENST00000650281.1:c.1025G>C	ENSP00000497000.1:p.Gly342Ala
ENST00000328354.10:c.1025G>C	ENSP00000329178.6:p.Gly342Ala
ENST00000348295.7:c.1009-1098G>C	ENSP00000329012.5:n.1009-1098G>C
ENST00000382580.6:c.1154G>C	ENSP00000372023.2:p.Gly385Ala
ENST00000402731.5:c.1009-1098G>C	ENSP00000384835.1:n.1009-1098G>C
ENST00000403642.5:c.752G>C	ENSP00000384919.1:p.Gly251Ala
ENST00000404276.5:c.1025G>C	ENSP00000385747.1:p.Gly342Ala
ENST00000405598.5:c.1025G>C	ENSP00000386087.1:p.Gly342Ala
ENST00000416671.5:c.*515G>C	ENSP00000402225.1:n.*515G>C
ENST00000417588.5:c.934G>C	ENSP00000412901.1:n.934G>C
ENST00000425190.6:c.362G>C	ENSP00000390244.1:p.Gly121Ala
ENST00000433028.6:c.*750G>C	ENSP00000403659.1:n.*750G>C
ENST00000433728.5:c.963G>C	ENSP00000404400.1:n.963G>C
ENST00000434810.5:c.256G>C
ENST00000447421.5:c.824G>C	ENSP00000397478.2:p.Gly275Ala
ENST00000448511.5:c.915G>C	ENSP00000404567.1:n.915G>C
ENST00000456369.5:c.263+2867G>C
ENST00000464581.5:c.365G>C	ENSP00000483777.1:p.Gly122Ala
ENST00000491919.5:n.582G>C
NM_001005735.1:c.1154G>C	NP_001005735.1:p.Gly385Ala
NM_001257387.1:c.362G>C	NP_001244316.1:p.Gly121Ala
NM_007194.3:c.1025G>C	NP_009125.1:p.Gly342Ala
NM_145862.2:c.1009-1098G>C	NP_665861.1:n.1009-1098G>C
XM_006724114.2:c.545G>C	XP_006724177.1:p.Gly182Ala
XM_006724116.2:c.482G>C	XP_006724179.2:p.Gly161Ala
XM_011529839.1:c.1184G>C	XP_011528141.1:p.Gly395Ala
XM_011529840.1:c.1168-1098G>C	XP_011528142.1:n.1168-1098G>C
XM_011529841.1:c.953G>C	XP_011528143.1:p.Gly318Ala
XM_011529842.1:c.854G>C	XP_011528144.1:p.Gly285Ala
XM_011529843.1:c.824G>C	XP_011528145.1:p.Gly275Ala
XM_011529845.1:c.362G>C	XP_011528147.1:p.Gly121Ala
XR_937805.1:n.1184G>C
XR_937806.1:n.1163-1098G>C
NM_001349956.1:c.824G>C	NP_001336885.1:p.Gly275Ala
NM_007194.4:c.1025G>C MANE Select	NP_009125.1:p.Gly342Ala
XM_006724114.3:c.578G>C	XP_006724177.2:p.Gly193Ala
XM_011529839.2:c.1184G>C	XP_011528141.1:p.Gly395Ala
XM_011529840.3:c.1168-1098G>C	XP_011528142.1:n.1168-1098G>C
XM_011529842.2:c.854G>C	XP_011528144.1:p.Gly285Ala
XM_011529845.2:c.362G>C	XP_011528147.1:p.Gly121Ala
XM_017028560.1:c.1148G>C	XP_016884049.1:p.Gly383Ala
XM_017028561.2:c.362G>C	XP_016884050.1:p.Gly121Ala
XM_024452148.1:c.1055G>C	XP_024307916.1:p.Gly352Ala
XM_024452149.1:c.1039-1098G>C	XP_024307917.1:n.1039-1098G>C
XR_937805.2:n.1195G>C
XR_937806.2:n.1179-1098G>C
NM_001005735.2:c.1154G>C	NP_001005735.1:p.Gly385Ala
NM_001257387.2:c.362G>C	NP_001244316.1:p.Gly121Ala
NM_001349956.2:c.824G>C	NP_001336885.1:p.Gly275Ala