Canonical Allele Identifier: CA411097799

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 1483693
• ClinVar RCV Id: RCV002003231
• dbSNP Id: rs2145817987
• MyVariant Identifiers: chr22:g.29092963T>C (hg19) ; chr22:g.28696975T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696975T>C , CM000684.2:g.28696975T>C	GRCh38
NC_000022.10:g.29092963T>C , CM000684.1:g.29092963T>C	GRCh37
NC_000022.9:g.27422963T>C	NCBI36
NG_008150.1:g.49860A>G
NG_008150.2:g.49892A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1733A>G	ENSP00000518557.1:n.1009-1733A>G
ENST00000402731.6:c.820A>G	ENSP00000384835.2:p.Asn274Asp
ENST00000404276.6:c.1021A>G MANE Select	ENSP00000385747.1:p.Asn341Asp
ENST00000425190.7:c.358A>G	ENSP00000390244.2:p.Asn120Asp
ENST00000464581.6:c.361A>G	ENSP00000483777.2:p.Asn121Asp
ENST00000648295.1:n.573A>G
ENST00000649563.1:c.358A>G	ENSP00000496928.1:p.Asn120Asp
ENST00000650281.1:c.1021A>G	ENSP00000497000.1:p.Asn341Asp
ENST00000328354.10:c.1021A>G	ENSP00000329178.6:p.Asn341Asp
ENST00000348295.7:c.1009-1102A>G	ENSP00000329012.5:n.1009-1102A>G
ENST00000382580.6:c.1150A>G	ENSP00000372023.2:p.Asn384Asp
ENST00000402731.5:c.1009-1102A>G	ENSP00000384835.1:n.1009-1102A>G
ENST00000403642.5:c.748A>G	ENSP00000384919.1:p.Asn250Asp
ENST00000404276.5:c.1021A>G	ENSP00000385747.1:p.Asn341Asp
ENST00000405598.5:c.1021A>G	ENSP00000386087.1:p.Asn341Asp
ENST00000416671.5:c.*511A>G	ENSP00000402225.1:n.*511A>G
ENST00000417588.5:c.930A>G	ENSP00000412901.1:n.930A>G
ENST00000425190.6:c.358A>G	ENSP00000390244.1:p.Asn120Asp
ENST00000433028.6:c.*746A>G	ENSP00000403659.1:n.*746A>G
ENST00000433728.5:c.959A>G	ENSP00000404400.1:n.959A>G
ENST00000434810.5:c.252A>G
ENST00000447421.5:c.820A>G	ENSP00000397478.2:p.Asn274Asp
ENST00000448511.5:c.911A>G	ENSP00000404567.1:n.911A>G
ENST00000456369.5:c.263+2863A>G
ENST00000464581.5:c.361A>G	ENSP00000483777.1:p.Asn121Asp
ENST00000491919.5:n.578A>G
NM_001005735.1:c.1150A>G	NP_001005735.1:p.Asn384Asp
NM_001257387.1:c.358A>G	NP_001244316.1:p.Asn120Asp
NM_007194.3:c.1021A>G	NP_009125.1:p.Asn341Asp
NM_145862.2:c.1009-1102A>G	NP_665861.1:n.1009-1102A>G
XM_006724114.2:c.541A>G	XP_006724177.1:p.Asn181Asp
XM_006724116.2:c.478A>G	XP_006724179.2:p.Asn160Asp
XM_011529839.1:c.1180A>G	XP_011528141.1:p.Asn394Asp
XM_011529840.1:c.1168-1102A>G	XP_011528142.1:n.1168-1102A>G
XM_011529841.1:c.949A>G	XP_011528143.1:p.Asn317Asp
XM_011529842.1:c.850A>G	XP_011528144.1:p.Asn284Asp
XM_011529843.1:c.820A>G	XP_011528145.1:p.Asn274Asp
XM_011529845.1:c.358A>G	XP_011528147.1:p.Asn120Asp
XR_937805.1:n.1180A>G
XR_937806.1:n.1163-1102A>G
NM_001349956.1:c.820A>G	NP_001336885.1:p.Asn274Asp
NM_007194.4:c.1021A>G MANE Select	NP_009125.1:p.Asn341Asp
XM_006724114.3:c.574A>G	XP_006724177.2:p.Asn192Asp
XM_011529839.2:c.1180A>G	XP_011528141.1:p.Asn394Asp
XM_011529840.3:c.1168-1102A>G	XP_011528142.1:n.1168-1102A>G
XM_011529842.2:c.850A>G	XP_011528144.1:p.Asn284Asp
XM_011529845.2:c.358A>G	XP_011528147.1:p.Asn120Asp
XM_017028560.1:c.1144A>G	XP_016884049.1:p.Asn382Asp
XM_017028561.2:c.358A>G	XP_016884050.1:p.Asn120Asp
XM_024452148.1:c.1051A>G	XP_024307916.1:p.Asn351Asp
XM_024452149.1:c.1039-1102A>G	XP_024307917.1:n.1039-1102A>G
XR_937805.2:n.1191A>G
XR_937806.2:n.1179-1102A>G
NM_001005735.2:c.1150A>G	NP_001005735.1:p.Asn384Asp
NM_001257387.2:c.358A>G	NP_001244316.1:p.Asn120Asp
NM_001349956.2:c.820A>G	NP_001336885.1:p.Asn274Asp