Canonical Allele Identifier: CA513944925

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 460786
• ClinVar RCV Id: RCV000530568
• dbSNP Id: rs1555913842
• COSMIC: COSM35361 ; COSM6290864
• MyVariant Identifiers: chr22:g.29091808G>A (hg19) ; chr22:g.28695820G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695820G>A , CM000684.2:g.28695820G>A	GRCh38
NC_000022.10:g.29091808G>A , CM000684.1:g.29091808G>A	GRCh37
NC_000022.9:g.27421808G>A	NCBI36
NG_008150.1:g.51015C>T
NG_008150.2:g.51047C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-578C>T	ENSP00000518557.1:n.1009-578C>T
ENST00000402731.6:c.948C>T	ENSP00000384835.2:p.Thr316=
ENST00000404276.6:c.1149C>T MANE Select	ENSP00000385747.1:p.Thr383=
ENST00000425190.7:c.486C>T	ENSP00000390244.2:p.Thr162=
ENST00000464581.6:c.489C>T	ENSP00000483777.2:p.Thr163=
ENST00000648295.1:n.701C>T
ENST00000649563.1:c.486C>T	ENSP00000496928.1:p.Thr162=
ENST00000650281.1:c.1149C>T	ENSP00000497000.1:p.Thr383=
ENST00000328354.10:c.1149C>T	ENSP00000329178.6:p.Thr383=
ENST00000348295.7:c.1062C>T	ENSP00000329012.5:p.Thr354=
ENST00000382580.6:c.1278C>T	ENSP00000372023.2:p.Thr426=
ENST00000402731.5:c.1062C>T	ENSP00000384835.1:p.Thr354=
ENST00000403642.5:c.876C>T	ENSP00000384919.1:p.Thr292=
ENST00000404276.5:c.1149C>T	ENSP00000385747.1:p.Thr383=
ENST00000405598.5:c.1149C>T	ENSP00000386087.1:p.Thr383=
ENST00000416671.5:c.*639C>T	ENSP00000402225.1:n.*639C>T
ENST00000417588.5:c.1058C>T	ENSP00000412901.1:n.1058C>T
ENST00000433728.5:c.1087C>T	ENSP00000404400.1:n.1087C>T
ENST00000434810.5:c.380C>T
ENST00000448511.5:c.1039C>T	ENSP00000404567.1:n.1039C>T
ENST00000456369.5:c.263+4018C>T
NM_001005735.1:c.1278C>T	NP_001005735.1:p.Thr426=
NM_001257387.1:c.486C>T	NP_001244316.1:p.Thr162=
NM_007194.3:c.1149C>T	NP_009125.1:p.Thr383=
NM_145862.2:c.1062C>T	NP_665861.1:p.Thr354=
XM_006724114.2:c.669C>T	XP_006724177.1:p.Thr223=
XM_006724116.2:c.606C>T	XP_006724179.2:p.Thr202=
XM_011529839.1:c.1308C>T	XP_011528141.1:p.Thr436=
XM_011529840.1:c.1221C>T	XP_011528142.1:p.Thr407=
XM_011529841.1:c.1077C>T	XP_011528143.1:p.Thr359=
XM_011529842.1:c.978C>T	XP_011528144.1:p.Thr326=
XM_011529843.1:c.948C>T	XP_011528145.1:p.Thr316=
XM_011529845.1:c.486C>T	XP_011528147.1:p.Thr162=
XR_937805.1:n.1308C>T
XR_937806.1:n.1216C>T
NM_001349956.1:c.948C>T	NP_001336885.1:p.Thr316=
NM_007194.4:c.1149C>T MANE Select	NP_009125.1:p.Thr383=
XM_006724114.3:c.702C>T	XP_006724177.2:p.Thr234=
XM_011529839.2:c.1308C>T	XP_011528141.1:p.Thr436=
XM_011529840.3:c.1221C>T	XP_011528142.1:p.Thr407=
XM_011529842.2:c.978C>T	XP_011528144.1:p.Thr326=
XM_011529845.2:c.486C>T	XP_011528147.1:p.Thr162=
XM_017028560.1:c.1272C>T	XP_016884049.1:p.Thr424=
XM_017028561.2:c.486C>T	XP_016884050.1:p.Thr162=
XM_024452148.1:c.1179C>T	XP_024307916.1:p.Thr393=
XM_024452149.1:c.1092C>T	XP_024307917.1:p.Thr364=
XR_937805.2:n.1319C>T
XR_937806.2:n.1232C>T
NM_001005735.2:c.1278C>T	NP_001005735.1:p.Thr426=
NM_001257387.2:c.486C>T	NP_001244316.1:p.Thr162=
NM_001349956.2:c.948C>T	NP_001336885.1:p.Thr316=