Canonical Allele Identifier: CA513944879

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 516548
• ClinVar RCV Id: RCV000616732
• dbSNP Id: rs1350419049
• gnomAD v4: 22-28695760-C-A
• MyVariant Identifiers: chr22:g.29091748C>A (hg19) ; chr22:g.28695760C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695760C>A , CM000684.2:g.28695760C>A	GRCh38
NC_000022.10:g.29091748C>A , CM000684.1:g.29091748C>A	GRCh37
NC_000022.9:g.27421748C>A	NCBI36
NG_008150.1:g.51075G>T
NG_008150.2:g.51107G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-518G>T	ENSP00000518557.1:n.1009-518G>T
ENST00000402731.6:c.1008G>T	ENSP00000384835.2:p.Gly336=
ENST00000404276.6:c.1209G>T MANE Select	ENSP00000385747.1:p.Gly403=
ENST00000425190.7:c.546G>T	ENSP00000390244.2:p.Gly182=
ENST00000464581.6:c.549G>T	ENSP00000483777.2:p.Gly183=
ENST00000648295.1:n.761G>T
ENST00000649563.1:c.546G>T	ENSP00000496928.1:p.Gly182=
ENST00000650281.1:c.1209G>T	ENSP00000497000.1:p.Gly403=
ENST00000328354.10:c.1209G>T	ENSP00000329178.6:p.Gly403=
ENST00000348295.7:c.1122G>T	ENSP00000329012.5:p.Gly374=
ENST00000382580.6:c.1338G>T	ENSP00000372023.2:p.Gly446=
ENST00000402731.5:c.1122G>T	ENSP00000384835.1:p.Gly374=
ENST00000403642.5:c.936G>T	ENSP00000384919.1:p.Gly312=
ENST00000404276.5:c.1209G>T	ENSP00000385747.1:p.Gly403=
ENST00000405598.5:c.1209G>T	ENSP00000386087.1:p.Gly403=
ENST00000416671.5:c.*699G>T	ENSP00000402225.1:n.*699G>T
ENST00000417588.5:c.1118G>T	ENSP00000412901.1:n.1118G>T
ENST00000433728.5:c.1147G>T	ENSP00000404400.1:n.1147G>T
ENST00000434810.5:c.440G>T
ENST00000448511.5:c.1099G>T	ENSP00000404567.1:n.1099G>T
ENST00000456369.5:c.263+4078G>T
NM_001005735.1:c.1338G>T	NP_001005735.1:p.Gly446=
NM_001257387.1:c.546G>T	NP_001244316.1:p.Gly182=
NM_007194.3:c.1209G>T	NP_009125.1:p.Gly403=
NM_145862.2:c.1122G>T	NP_665861.1:p.Gly374=
XM_006724114.2:c.729G>T	XP_006724177.1:p.Gly243=
XM_006724116.2:c.666G>T	XP_006724179.2:p.Gly222=
XM_011529839.1:c.1368G>T	XP_011528141.1:p.Gly456=
XM_011529840.1:c.1281G>T	XP_011528142.1:p.Gly427=
XM_011529841.1:c.1137G>T	XP_011528143.1:p.Gly379=
XM_011529842.1:c.1038G>T	XP_011528144.1:p.Gly346=
XM_011529843.1:c.1008G>T	XP_011528145.1:p.Gly336=
XM_011529845.1:c.546G>T	XP_011528147.1:p.Gly182=
XR_937805.1:n.1368G>T
NM_001349956.1:c.1008G>T	NP_001336885.1:p.Gly336=
NM_007194.4:c.1209G>T MANE Select	NP_009125.1:p.Gly403=
XM_006724114.3:c.762G>T	XP_006724177.2:p.Gly254=
XM_011529839.2:c.1368G>T	XP_011528141.1:p.Gly456=
XM_011529840.3:c.1281G>T	XP_011528142.1:p.Gly427=
XM_011529842.2:c.1038G>T	XP_011528144.1:p.Gly346=
XM_011529845.2:c.546G>T	XP_011528147.1:p.Gly182=
XM_017028560.1:c.1332G>T	XP_016884049.1:p.Gly444=
XM_017028561.2:c.546G>T	XP_016884050.1:p.Gly182=
XM_024452148.1:c.1239G>T	XP_024307916.1:p.Gly413=
XM_024452149.1:c.1152G>T	XP_024307917.1:p.Gly384=
XR_937805.2:n.1379G>T
NM_001005735.2:c.1338G>T	NP_001005735.1:p.Gly446=
NM_001257387.2:c.546G>T	NP_001244316.1:p.Gly182=
NM_001349956.2:c.1008G>T	NP_001336885.1:p.Gly336=