Canonical Allele Identifier: CA411096544

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 1370917
• ClinVar RCV Id: RCV001899453 ; RCV003355592
• dbSNP Id: rs2052548069
• MyVariant Identifiers: chr22:g.29091708G>C (hg19) ; chr22:g.28695720G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695720G>C , CM000684.2:g.28695720G>C	GRCh38
NC_000022.10:g.29091708G>C , CM000684.1:g.29091708G>C	GRCh37
NC_000022.9:g.27421708G>C	NCBI36
NG_008150.1:g.51115C>G
NG_008150.2:g.51147C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-478C>G	ENSP00000518557.1:n.1009-478C>G
ENST00000402731.6:c.1048C>G	ENSP00000384835.2:p.Leu350Val
ENST00000404276.6:c.1249C>G MANE Select	ENSP00000385747.1:p.Leu417Val
ENST00000425190.7:c.586C>G	ENSP00000390244.2:p.Leu196Val
ENST00000464581.6:c.589C>G	ENSP00000483777.2:p.Leu197Val
ENST00000648295.1:n.801C>G
ENST00000649563.1:c.586C>G	ENSP00000496928.1:p.Leu196Val
ENST00000650281.1:c.1249C>G	ENSP00000497000.1:p.Leu417Val
ENST00000328354.10:c.1249C>G	ENSP00000329178.6:p.Leu417Val
ENST00000348295.7:c.1162C>G	ENSP00000329012.5:p.Leu388Val
ENST00000382580.6:c.1378C>G	ENSP00000372023.2:p.Leu460Val
ENST00000402731.5:c.1162C>G	ENSP00000384835.1:p.Leu388Val
ENST00000403642.5:c.976C>G	ENSP00000384919.1:p.Leu326Val
ENST00000404276.5:c.1249C>G	ENSP00000385747.1:p.Leu417Val
ENST00000405598.5:c.1249C>G	ENSP00000386087.1:p.Leu417Val
ENST00000416671.5:c.*739C>G	ENSP00000402225.1:n.*739C>G
ENST00000417588.5:c.1158C>G	ENSP00000412901.1:n.1158C>G
ENST00000433728.5:c.1187C>G	ENSP00000404400.1:n.1187C>G
ENST00000434810.5:c.480C>G
ENST00000448511.5:c.1139C>G	ENSP00000404567.1:n.1139C>G
ENST00000456369.5:c.263+4118C>G
NM_001005735.1:c.1378C>G	NP_001005735.1:p.Leu460Val
NM_001257387.1:c.586C>G	NP_001244316.1:p.Leu196Val
NM_007194.3:c.1249C>G	NP_009125.1:p.Leu417Val
NM_145862.2:c.1162C>G	NP_665861.1:p.Leu388Val
XM_006724114.2:c.769C>G	XP_006724177.1:p.Leu257Val
XM_006724116.2:c.706C>G	XP_006724179.2:p.Leu236Val
XM_011529839.1:c.1408C>G	XP_011528141.1:p.Leu470Val
XM_011529840.1:c.1321C>G	XP_011528142.1:p.Leu441Val
XM_011529841.1:c.1177C>G	XP_011528143.1:p.Leu393Val
XM_011529842.1:c.1078C>G	XP_011528144.1:p.Leu360Val
XM_011529843.1:c.1048C>G	XP_011528145.1:p.Leu350Val
XM_011529845.1:c.586C>G	XP_011528147.1:p.Leu196Val
XR_937805.1:n.1408C>G
NM_001349956.1:c.1048C>G	NP_001336885.1:p.Leu350Val
NM_007194.4:c.1249C>G MANE Select	NP_009125.1:p.Leu417Val
XM_006724114.3:c.802C>G	XP_006724177.2:p.Leu268Val
XM_011529839.2:c.1408C>G	XP_011528141.1:p.Leu470Val
XM_011529840.3:c.1321C>G	XP_011528142.1:p.Leu441Val
XM_011529842.2:c.1078C>G	XP_011528144.1:p.Leu360Val
XM_011529845.2:c.586C>G	XP_011528147.1:p.Leu196Val
XM_017028560.1:c.1372C>G	XP_016884049.1:p.Leu458Val
XM_017028561.2:c.586C>G	XP_016884050.1:p.Leu196Val
XM_024452148.1:c.1279C>G	XP_024307916.1:p.Leu427Val
XM_024452149.1:c.1192C>G	XP_024307917.1:p.Leu398Val
XR_937805.2:n.1419C>G
NM_001005735.2:c.1378C>G	NP_001005735.1:p.Leu460Val
NM_001257387.2:c.586C>G	NP_001244316.1:p.Leu196Val
NM_001349956.2:c.1048C>G	NP_001336885.1:p.Leu350Val