Canonical Allele Identifier: CA299082

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 182435
• ClinVar RCV Id: RCV000160434 ; RCV000576132 ; RCV000704401 ; RCV000764374
• dbSNP Id: rs730881690
• gnomAD v3: 22-28695791-G-A
• gnomAD v4: 22-28695791-G-A
• MyVariant Identifiers: chr22:g.29091779G>A (hg19) ; chr22:g.28695791G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695791G>A , CM000684.2:g.28695791G>A	GRCh38
NC_000022.10:g.29091779G>A , CM000684.1:g.29091779G>A	GRCh37
NC_000022.9:g.27421779G>A	NCBI36
NG_008150.1:g.51044C>T
NG_008150.2:g.51076C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-549C>T	ENSP00000518557.1:n.1009-549C>T
ENST00000402731.6:c.977C>T	ENSP00000384835.2:p.Pro326Leu
ENST00000404276.6:c.1178C>T MANE Select	ENSP00000385747.1:p.Pro393Leu
ENST00000425190.7:c.515C>T	ENSP00000390244.2:p.Pro172Leu
ENST00000464581.6:c.518C>T	ENSP00000483777.2:p.Pro173Leu
ENST00000648295.1:n.730C>T
ENST00000649563.1:c.515C>T	ENSP00000496928.1:p.Pro172Leu
ENST00000650281.1:c.1178C>T	ENSP00000497000.1:p.Pro393Leu
ENST00000328354.10:c.1178C>T	ENSP00000329178.6:p.Pro393Leu
ENST00000348295.7:c.1091C>T	ENSP00000329012.5:p.Pro364Leu
ENST00000382580.6:c.1307C>T	ENSP00000372023.2:p.Pro436Leu
ENST00000402731.5:c.1091C>T	ENSP00000384835.1:p.Pro364Leu
ENST00000403642.5:c.905C>T	ENSP00000384919.1:p.Pro302Leu
ENST00000404276.5:c.1178C>T	ENSP00000385747.1:p.Pro393Leu
ENST00000405598.5:c.1178C>T	ENSP00000386087.1:p.Pro393Leu
ENST00000416671.5:c.*668C>T	ENSP00000402225.1:n.*668C>T
ENST00000417588.5:c.1087C>T	ENSP00000412901.1:n.1087C>T
ENST00000433728.5:c.1116C>T	ENSP00000404400.1:n.1116C>T
ENST00000434810.5:c.409C>T
ENST00000448511.5:c.1068C>T	ENSP00000404567.1:n.1068C>T
ENST00000456369.5:c.263+4047C>T
NM_001005735.1:c.1307C>T	NP_001005735.1:p.Pro436Leu
NM_001257387.1:c.515C>T	NP_001244316.1:p.Pro172Leu
NM_007194.3:c.1178C>T	NP_009125.1:p.Pro393Leu
NM_145862.2:c.1091C>T	NP_665861.1:p.Pro364Leu
XM_006724114.2:c.698C>T	XP_006724177.1:p.Pro233Leu
XM_006724116.2:c.635C>T	XP_006724179.2:p.Pro212Leu
XM_011529839.1:c.1337C>T	XP_011528141.1:p.Pro446Leu
XM_011529840.1:c.1250C>T	XP_011528142.1:p.Pro417Leu
XM_011529841.1:c.1106C>T	XP_011528143.1:p.Pro369Leu
XM_011529842.1:c.1007C>T	XP_011528144.1:p.Pro336Leu
XM_011529843.1:c.977C>T	XP_011528145.1:p.Pro326Leu
XM_011529845.1:c.515C>T	XP_011528147.1:p.Pro172Leu
XR_937805.1:n.1337C>T
XR_937806.1:n.1245C>T
NM_001349956.1:c.977C>T	NP_001336885.1:p.Pro326Leu
NM_007194.4:c.1178C>T MANE Select	NP_009125.1:p.Pro393Leu
XM_006724114.3:c.731C>T	XP_006724177.2:p.Pro244Leu
XM_011529839.2:c.1337C>T	XP_011528141.1:p.Pro446Leu
XM_011529840.3:c.1250C>T	XP_011528142.1:p.Pro417Leu
XM_011529842.2:c.1007C>T	XP_011528144.1:p.Pro336Leu
XM_011529845.2:c.515C>T	XP_011528147.1:p.Pro172Leu
XM_017028560.1:c.1301C>T	XP_016884049.1:p.Pro434Leu
XM_017028561.2:c.515C>T	XP_016884050.1:p.Pro172Leu
XM_024452148.1:c.1208C>T	XP_024307916.1:p.Pro403Leu
XM_024452149.1:c.1121C>T	XP_024307917.1:p.Pro374Leu
XR_937805.2:n.1348C>T
XR_937806.2:n.1261C>T
NM_001005735.2:c.1307C>T	NP_001005735.1:p.Pro436Leu
NM_001257387.2:c.515C>T	NP_001244316.1:p.Pro172Leu
NM_001349956.2:c.977C>T	NP_001336885.1:p.Pro326Leu