Canonical Allele Identifier: CA10167743

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 410068
• ClinVar RCV Id: RCV000457476 ; RCV004022743
• dbSNP Id: rs747655283
• ExAC: 22:29092965 T / C
• gnomAD v2: 22-29092965-T-C
• gnomAD v3: 22-28696977-T-C
• gnomAD v4: 22-28696977-T-C
• MyVariant Identifiers: chr22:g.29092965T>C (hg19) ; chr22:g.28696977T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696977T>C , CM000684.2:g.28696977T>C	GRCh38
NC_000022.10:g.29092965T>C , CM000684.1:g.29092965T>C	GRCh37
NC_000022.9:g.27422965T>C	NCBI36
NG_008150.1:g.49858A>G
NG_008150.2:g.49890A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1735A>G	ENSP00000518557.1:n.1009-1735A>G
ENST00000402731.6:c.818A>G	ENSP00000384835.2:p.Glu273Gly
ENST00000404276.6:c.1019A>G MANE Select	ENSP00000385747.1:p.Glu340Gly
ENST00000425190.7:c.356A>G	ENSP00000390244.2:p.Glu119Gly
ENST00000464581.6:c.359A>G	ENSP00000483777.2:p.Glu120Gly
ENST00000648295.1:n.571A>G
ENST00000649563.1:c.356A>G	ENSP00000496928.1:p.Glu119Gly
ENST00000650281.1:c.1019A>G	ENSP00000497000.1:p.Glu340Gly
ENST00000328354.10:c.1019A>G	ENSP00000329178.6:p.Glu340Gly
ENST00000348295.7:c.1009-1104A>G	ENSP00000329012.5:n.1009-1104A>G
ENST00000382580.6:c.1148A>G	ENSP00000372023.2:p.Glu383Gly
ENST00000402731.5:c.1009-1104A>G	ENSP00000384835.1:n.1009-1104A>G
ENST00000403642.5:c.746A>G	ENSP00000384919.1:p.Glu249Gly
ENST00000404276.5:c.1019A>G	ENSP00000385747.1:p.Glu340Gly
ENST00000405598.5:c.1019A>G	ENSP00000386087.1:p.Glu340Gly
ENST00000416671.5:c.*509A>G	ENSP00000402225.1:n.*509A>G
ENST00000417588.5:c.928A>G	ENSP00000412901.1:n.928A>G
ENST00000425190.6:c.356A>G	ENSP00000390244.1:p.Glu119Gly
ENST00000433028.6:c.*744A>G	ENSP00000403659.1:n.*744A>G
ENST00000433728.5:c.957A>G	ENSP00000404400.1:n.957A>G
ENST00000434810.5:c.250A>G
ENST00000447421.5:c.818A>G	ENSP00000397478.2:p.Glu273Gly
ENST00000448511.5:c.909A>G	ENSP00000404567.1:n.909A>G
ENST00000456369.5:c.263+2861A>G
ENST00000464581.5:c.359A>G	ENSP00000483777.1:p.Glu120Gly
ENST00000491919.5:n.576A>G
NM_001005735.1:c.1148A>G	NP_001005735.1:p.Glu383Gly
NM_001257387.1:c.356A>G	NP_001244316.1:p.Glu119Gly
NM_007194.3:c.1019A>G	NP_009125.1:p.Glu340Gly
NM_145862.2:c.1009-1104A>G	NP_665861.1:n.1009-1104A>G
XM_006724114.2:c.539A>G	XP_006724177.1:p.Glu180Gly
XM_006724116.2:c.476A>G	XP_006724179.2:p.Glu159Gly
XM_011529839.1:c.1178A>G	XP_011528141.1:p.Glu393Gly
XM_011529840.1:c.1168-1104A>G	XP_011528142.1:n.1168-1104A>G
XM_011529841.1:c.947A>G	XP_011528143.1:p.Glu316Gly
XM_011529842.1:c.848A>G	XP_011528144.1:p.Glu283Gly
XM_011529843.1:c.818A>G	XP_011528145.1:p.Glu273Gly
XM_011529845.1:c.356A>G	XP_011528147.1:p.Glu119Gly
XR_937805.1:n.1178A>G
XR_937806.1:n.1163-1104A>G
NM_001349956.1:c.818A>G	NP_001336885.1:p.Glu273Gly
NM_007194.4:c.1019A>G MANE Select	NP_009125.1:p.Glu340Gly
XM_006724114.3:c.572A>G	XP_006724177.2:p.Glu191Gly
XM_011529839.2:c.1178A>G	XP_011528141.1:p.Glu393Gly
XM_011529840.3:c.1168-1104A>G	XP_011528142.1:n.1168-1104A>G
XM_011529842.2:c.848A>G	XP_011528144.1:p.Glu283Gly
XM_011529845.2:c.356A>G	XP_011528147.1:p.Glu119Gly
XM_017028560.1:c.1142A>G	XP_016884049.1:p.Glu381Gly
XM_017028561.2:c.356A>G	XP_016884050.1:p.Glu119Gly
XM_024452148.1:c.1049A>G	XP_024307916.1:p.Glu350Gly
XM_024452149.1:c.1039-1104A>G	XP_024307917.1:n.1039-1104A>G
XR_937805.2:n.1189A>G
XR_937806.2:n.1179-1104A>G
NM_001005735.2:c.1148A>G	NP_001005735.1:p.Glu383Gly
NM_001257387.2:c.356A>G	NP_001244316.1:p.Glu119Gly
NM_001349956.2:c.818A>G	NP_001336885.1:p.Glu273Gly