Canonical Allele Identifier: CA513945029

Gene: CHEK2

Linked Data

• MyVariant Identifiers: chr22:g.29095868A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699880A>C , CM000684.2:g.28699880A>C	GRCh38
NC_000022.10:g.29095868A>C , CM000684.1:g.29095868A>C	GRCh37
NC_000022.9:g.27425868A>C	NCBI36
NG_008150.1:g.46955T>G
NG_008150.2:g.46987T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.875T>G	ENSP00000396903.2:n.875T>G
ENST00000711048.1:c.966T>G	ENSP00000518557.1:p.Ala322=
ENST00000402731.6:c.765T>G	ENSP00000384835.2:p.Ala255=
ENST00000404276.6:c.966T>G MANE Select	ENSP00000385747.1:p.Ala322=
ENST00000425190.7:c.303T>G	ENSP00000390244.2:p.Ala101=
ENST00000464581.6:c.306T>G	ENSP00000483777.2:p.Ala102=
ENST00000648295.1:n.518T>G
ENST00000649563.1:c.303T>G	ENSP00000496928.1:p.Ala101=
ENST00000650281.1:c.966T>G	ENSP00000497000.1:p.Ala322=
ENST00000328354.10:c.966T>G	ENSP00000329178.6:p.Ala322=
ENST00000348295.7:c.966T>G	ENSP00000329012.5:p.Ala322=
ENST00000382580.6:c.1095T>G	ENSP00000372023.2:p.Ala365=
ENST00000402731.5:c.966T>G	ENSP00000384835.1:p.Ala322=
ENST00000403642.5:c.693T>G	ENSP00000384919.1:p.Ala231=
ENST00000404276.5:c.966T>G	ENSP00000385747.1:p.Ala322=
ENST00000405598.5:c.966T>G	ENSP00000386087.1:p.Ala322=
ENST00000416671.5:c.*456T>G	ENSP00000402225.1:n.*456T>G
ENST00000417588.5:c.875T>G	ENSP00000412901.1:n.875T>G
ENST00000425190.6:c.303T>G	ENSP00000390244.1:p.Ala101=
ENST00000433028.6:c.*691T>G	ENSP00000403659.1:n.*691T>G
ENST00000433728.5:c.904T>G	ENSP00000404400.1:n.904T>G
ENST00000434810.5:c.197T>G
ENST00000439346.5:c.437T>G	ENSP00000396903.1:n.437T>G
ENST00000447421.5:c.765T>G	ENSP00000397478.2:p.Ala255=
ENST00000448511.5:c.856T>G	ENSP00000404567.1:n.856T>G
ENST00000456369.5:c.221T>G
ENST00000464581.5:c.306T>G	ENSP00000483777.1:p.Ala102=
ENST00000491919.5:n.523T>G
NM_001005735.1:c.1095T>G	NP_001005735.1:p.Ala365=
NM_001257387.1:c.303T>G	NP_001244316.1:p.Ala101=
NM_007194.3:c.966T>G	NP_009125.1:p.Ala322=
NM_145862.2:c.966T>G	NP_665861.1:p.Ala322=
XM_006724114.2:c.486T>G	XP_006724177.1:p.Ala162=
XM_006724116.2:c.423T>G	XP_006724179.2:p.Ala141=
XM_011529839.1:c.1125T>G	XP_011528141.1:p.Ala375=
XM_011529840.1:c.1125T>G	XP_011528142.1:p.Ala375=
XM_011529841.1:c.894T>G	XP_011528143.1:p.Ala298=
XM_011529842.1:c.795T>G	XP_011528144.1:p.Ala265=
XM_011529843.1:c.765T>G	XP_011528145.1:p.Ala255=
XM_011529844.1:c.1125T>G	XP_011528146.1:p.Ala375=
XM_011529845.1:c.303T>G	XP_011528147.1:p.Ala101=
XR_937805.1:n.1125T>G
XR_937806.1:n.1120T>G
XR_937807.1:n.1120T>G
NM_001349956.1:c.765T>G	NP_001336885.1:p.Ala255=
NM_007194.4:c.966T>G MANE Select	NP_009125.1:p.Ala322=
XM_006724114.3:c.519T>G	XP_006724177.2:p.Ala173=
XM_011529839.2:c.1125T>G	XP_011528141.1:p.Ala375=
XM_011529840.3:c.1125T>G	XP_011528142.1:p.Ala375=
XM_011529842.2:c.795T>G	XP_011528144.1:p.Ala265=
XM_011529844.2:c.1125T>G	XP_011528146.1:p.Ala375=
XM_011529845.2:c.303T>G	XP_011528147.1:p.Ala101=
XM_017028560.1:c.1089T>G	XP_016884049.1:p.Ala363=
XM_017028561.2:c.303T>G	XP_016884050.1:p.Ala101=
XM_024452148.1:c.996T>G	XP_024307916.1:p.Ala332=
XM_024452149.1:c.996T>G	XP_024307917.1:p.Ala332=
XR_937805.2:n.1136T>G
XR_937806.2:n.1136T>G
XR_937807.2:n.1136T>G
NM_001005735.2:c.1095T>G	NP_001005735.1:p.Ala365=
NM_001257387.2:c.303T>G	NP_001244316.1:p.Ala101=
NM_001349956.2:c.765T>G	NP_001336885.1:p.Ala255=