Canonical Allele Identifier: CA513944988

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 1774229
• ClinVar RCV Id: RCV002392231 ; RCV003095268
• MyVariant Identifiers: chr22:g.29092943G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696955G>A , CM000684.2:g.28696955G>A	GRCh38
NC_000022.10:g.29092943G>A , CM000684.1:g.29092943G>A	GRCh37
NC_000022.9:g.27422943G>A	NCBI36
NG_008150.1:g.49880C>T
NG_008150.2:g.49912C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1713C>T	ENSP00000518557.1:n.1009-1713C>T
ENST00000402731.6:c.840C>T	ENSP00000384835.2:p.Asp280=
ENST00000404276.6:c.1041C>T MANE Select	ENSP00000385747.1:p.Asp347=
ENST00000425190.7:c.378C>T	ENSP00000390244.2:p.Asp126=
ENST00000464581.6:c.381C>T	ENSP00000483777.2:p.Asp127=
ENST00000648295.1:n.593C>T
ENST00000649563.1:c.378C>T	ENSP00000496928.1:p.Asp126=
ENST00000650281.1:c.1041C>T	ENSP00000497000.1:p.Asp347=
ENST00000328354.10:c.1041C>T	ENSP00000329178.6:p.Asp347=
ENST00000348295.7:c.1009-1082C>T	ENSP00000329012.5:n.1009-1082C>T
ENST00000382580.6:c.1170C>T	ENSP00000372023.2:p.Asp390=
ENST00000402731.5:c.1009-1082C>T	ENSP00000384835.1:n.1009-1082C>T
ENST00000403642.5:c.768C>T	ENSP00000384919.1:p.Asp256=
ENST00000404276.5:c.1041C>T	ENSP00000385747.1:p.Asp347=
ENST00000405598.5:c.1041C>T	ENSP00000386087.1:p.Asp347=
ENST00000416671.5:c.*531C>T	ENSP00000402225.1:n.*531C>T
ENST00000417588.5:c.950C>T	ENSP00000412901.1:n.950C>T
ENST00000433028.6:c.*766C>T	ENSP00000403659.1:n.*766C>T
ENST00000433728.5:c.979C>T	ENSP00000404400.1:n.979C>T
ENST00000434810.5:c.272C>T
ENST00000447421.5:c.840C>T	ENSP00000397478.2:p.Asp280=
ENST00000448511.5:c.931C>T	ENSP00000404567.1:n.931C>T
ENST00000456369.5:c.263+2883C>T
ENST00000464581.5:c.381C>T	ENSP00000483777.1:p.Asp127=
ENST00000491919.5:n.598C>T
NM_001005735.1:c.1170C>T	NP_001005735.1:p.Asp390=
NM_001257387.1:c.378C>T	NP_001244316.1:p.Asp126=
NM_007194.3:c.1041C>T	NP_009125.1:p.Asp347=
NM_145862.2:c.1009-1082C>T	NP_665861.1:n.1009-1082C>T
XM_006724114.2:c.561C>T	XP_006724177.1:p.Asp187=
XM_006724116.2:c.498C>T	XP_006724179.2:p.Asp166=
XM_011529839.1:c.1200C>T	XP_011528141.1:p.Asp400=
XM_011529840.1:c.1168-1082C>T	XP_011528142.1:n.1168-1082C>T
XM_011529841.1:c.969C>T	XP_011528143.1:p.Asp323=
XM_011529842.1:c.870C>T	XP_011528144.1:p.Asp290=
XM_011529843.1:c.840C>T	XP_011528145.1:p.Asp280=
XM_011529845.1:c.378C>T	XP_011528147.1:p.Asp126=
XR_937805.1:n.1200C>T
XR_937806.1:n.1163-1082C>T
NM_001349956.1:c.840C>T	NP_001336885.1:p.Asp280=
NM_007194.4:c.1041C>T MANE Select	NP_009125.1:p.Asp347=
XM_006724114.3:c.594C>T	XP_006724177.2:p.Asp198=
XM_011529839.2:c.1200C>T	XP_011528141.1:p.Asp400=
XM_011529840.3:c.1168-1082C>T	XP_011528142.1:n.1168-1082C>T
XM_011529842.2:c.870C>T	XP_011528144.1:p.Asp290=
XM_011529845.2:c.378C>T	XP_011528147.1:p.Asp126=
XM_017028560.1:c.1164C>T	XP_016884049.1:p.Asp388=
XM_017028561.2:c.378C>T	XP_016884050.1:p.Asp126=
XM_024452148.1:c.1071C>T	XP_024307916.1:p.Asp357=
XM_024452149.1:c.1039-1082C>T	XP_024307917.1:n.1039-1082C>T
XR_937805.2:n.1211C>T
XR_937806.2:n.1179-1082C>T
NM_001005735.2:c.1170C>T	NP_001005735.1:p.Asp390=
NM_001257387.2:c.378C>T	NP_001244316.1:p.Asp126=
NM_001349956.2:c.840C>T	NP_001336885.1:p.Asp280=