Canonical Allele Identifier: CA411097500

Gene: CHEK2

Linked Data

• COSMIC: COSM5575500
• MyVariant Identifiers: chr22:g.29092901G>T (hg19) ; chr22:g.28696913G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696913G>T , CM000684.2:g.28696913G>T	GRCh38
NC_000022.10:g.29092901G>T , CM000684.1:g.29092901G>T	GRCh37
NC_000022.9:g.27422901G>T	NCBI36
NG_008150.1:g.49922C>A
NG_008150.2:g.49954C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1671C>A	ENSP00000518557.1:n.1009-1671C>A
ENST00000402731.6:c.882C>A	ENSP00000384835.2:p.Asp294Glu
ENST00000404276.6:c.1083C>A MANE Select	ENSP00000385747.1:p.Asp361Glu
ENST00000425190.7:c.420C>A	ENSP00000390244.2:p.Asp140Glu
ENST00000464581.6:c.423C>A	ENSP00000483777.2:p.Asp141Glu
ENST00000648295.1:n.635C>A
ENST00000649563.1:c.420C>A	ENSP00000496928.1:p.Asp140Glu
ENST00000650281.1:c.1083C>A	ENSP00000497000.1:p.Asp361Glu
ENST00000328354.10:c.1083C>A	ENSP00000329178.6:p.Asp361Glu
ENST00000348295.7:c.1009-1040C>A	ENSP00000329012.5:n.1009-1040C>A
ENST00000382580.6:c.1212C>A	ENSP00000372023.2:p.Asp404Glu
ENST00000402731.5:c.1009-1040C>A	ENSP00000384835.1:n.1009-1040C>A
ENST00000403642.5:c.810C>A	ENSP00000384919.1:p.Asp270Glu
ENST00000404276.5:c.1083C>A	ENSP00000385747.1:p.Asp361Glu
ENST00000405598.5:c.1083C>A	ENSP00000386087.1:p.Asp361Glu
ENST00000416671.5:c.*573C>A	ENSP00000402225.1:n.*573C>A
ENST00000417588.5:c.992C>A	ENSP00000412901.1:n.992C>A
ENST00000433028.6:c.*808C>A	ENSP00000403659.1:n.*808C>A
ENST00000433728.5:c.1021C>A	ENSP00000404400.1:n.1021C>A
ENST00000434810.5:c.314C>A
ENST00000447421.5:c.882C>A	ENSP00000397478.2:p.Asp294Glu
ENST00000448511.5:c.973C>A	ENSP00000404567.1:n.973C>A
ENST00000456369.5:c.263+2925C>A
NM_001005735.1:c.1212C>A	NP_001005735.1:p.Asp404Glu
NM_001257387.1:c.420C>A	NP_001244316.1:p.Asp140Glu
NM_007194.3:c.1083C>A	NP_009125.1:p.Asp361Glu
NM_145862.2:c.1009-1040C>A	NP_665861.1:n.1009-1040C>A
XM_006724114.2:c.603C>A	XP_006724177.1:p.Asp201Glu
XM_006724116.2:c.540C>A	XP_006724179.2:p.Asp180Glu
XM_011529839.1:c.1242C>A	XP_011528141.1:p.Asp414Glu
XM_011529840.1:c.1168-1040C>A	XP_011528142.1:n.1168-1040C>A
XM_011529841.1:c.1011C>A	XP_011528143.1:p.Asp337Glu
XM_011529842.1:c.912C>A	XP_011528144.1:p.Asp304Glu
XM_011529843.1:c.882C>A	XP_011528145.1:p.Asp294Glu
XM_011529845.1:c.420C>A	XP_011528147.1:p.Asp140Glu
XR_937805.1:n.1242C>A
XR_937806.1:n.1163-1040C>A
NM_001349956.1:c.882C>A	NP_001336885.1:p.Asp294Glu
NM_007194.4:c.1083C>A MANE Select	NP_009125.1:p.Asp361Glu
XM_006724114.3:c.636C>A	XP_006724177.2:p.Asp212Glu
XM_011529839.2:c.1242C>A	XP_011528141.1:p.Asp414Glu
XM_011529840.3:c.1168-1040C>A	XP_011528142.1:n.1168-1040C>A
XM_011529842.2:c.912C>A	XP_011528144.1:p.Asp304Glu
XM_011529845.2:c.420C>A	XP_011528147.1:p.Asp140Glu
XM_017028560.1:c.1206C>A	XP_016884049.1:p.Asp402Glu
XM_017028561.2:c.420C>A	XP_016884050.1:p.Asp140Glu
XM_024452148.1:c.1113C>A	XP_024307916.1:p.Asp371Glu
XM_024452149.1:c.1039-1040C>A	XP_024307917.1:n.1039-1040C>A
XR_937805.2:n.1253C>A
XR_937806.2:n.1179-1040C>A
NM_001005735.2:c.1212C>A	NP_001005735.1:p.Asp404Glu
NM_001257387.2:c.420C>A	NP_001244316.1:p.Asp140Glu
NM_001349956.2:c.882C>A	NP_001336885.1:p.Asp294Glu