Canonical Allele Identifier: CA323009466

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 491660
• ClinVar RCV Id: RCV000583631 ; RCV000602036 ; RCV000926794
• dbSNP Id: rs1053994833
• gnomAD v2: 22-29095838-G-A
• gnomAD v3: 22-28699850-G-A
• gnomAD v4: 22-28699850-G-A
• MyVariant Identifiers: chr22:g.29095838G>A (hg19) ; chr22:g.28699850G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699850G>A , CM000684.2:g.28699850G>A	GRCh38
NC_000022.10:g.29095838G>A , CM000684.1:g.29095838G>A	GRCh37
NC_000022.9:g.27425838G>A	NCBI36
NG_008150.1:g.46985C>T
NG_008150.2:g.47017C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000439346.6:c.905C>T	ENSP00000396903.2:n.905C>T
ENST00000711048.1:c.996C>T	ENSP00000518557.1:p.Leu332=
ENST00000402731.6:c.795C>T	ENSP00000384835.2:p.Leu265=
ENST00000404276.6:c.996C>T MANE Select	ENSP00000385747.1:p.Leu332=
ENST00000425190.7:c.333C>T	ENSP00000390244.2:p.Leu111=
ENST00000464581.6:c.336C>T	ENSP00000483777.2:p.Leu112=
ENST00000648295.1:n.548C>T
ENST00000649563.1:c.333C>T	ENSP00000496928.1:p.Leu111=
ENST00000650281.1:c.996C>T	ENSP00000497000.1:p.Leu332=
ENST00000328354.10:c.996C>T	ENSP00000329178.6:p.Leu332=
ENST00000348295.7:c.996C>T	ENSP00000329012.5:p.Leu332=
ENST00000382580.6:c.1125C>T	ENSP00000372023.2:p.Leu375=
ENST00000402731.5:c.996C>T	ENSP00000384835.1:p.Leu332=
ENST00000403642.5:c.723C>T	ENSP00000384919.1:p.Leu241=
ENST00000404276.5:c.996C>T	ENSP00000385747.1:p.Leu332=
ENST00000405598.5:c.996C>T	ENSP00000386087.1:p.Leu332=
ENST00000416671.5:c.*486C>T	ENSP00000402225.1:n.*486C>T
ENST00000417588.5:c.905C>T	ENSP00000412901.1:n.905C>T
ENST00000425190.6:c.333C>T	ENSP00000390244.1:p.Leu111=
ENST00000433028.6:c.*721C>T	ENSP00000403659.1:n.*721C>T
ENST00000433728.5:c.934C>T	ENSP00000404400.1:n.934C>T
ENST00000434810.5:c.227C>T
ENST00000439346.5:c.467C>T	ENSP00000396903.1:n.467C>T
ENST00000447421.5:c.795C>T	ENSP00000397478.2:p.Leu265=
ENST00000448511.5:c.886C>T	ENSP00000404567.1:n.886C>T
ENST00000456369.5:c.251C>T
ENST00000464581.5:c.336C>T	ENSP00000483777.1:p.Leu112=
ENST00000491919.5:n.553C>T
NM_001005735.1:c.1125C>T	NP_001005735.1:p.Leu375=
NM_001257387.1:c.333C>T	NP_001244316.1:p.Leu111=
NM_007194.3:c.996C>T	NP_009125.1:p.Leu332=
NM_145862.2:c.996C>T	NP_665861.1:p.Leu332=
XM_006724114.2:c.516C>T	XP_006724177.1:p.Leu172=
XM_006724116.2:c.453C>T	XP_006724179.2:p.Leu151=
XM_011529839.1:c.1155C>T	XP_011528141.1:p.Leu385=
XM_011529840.1:c.1155C>T	XP_011528142.1:p.Leu385=
XM_011529841.1:c.924C>T	XP_011528143.1:p.Leu308=
XM_011529842.1:c.825C>T	XP_011528144.1:p.Leu275=
XM_011529843.1:c.795C>T	XP_011528145.1:p.Leu265=
XM_011529844.1:c.1155C>T	XP_011528146.1:p.Leu385=
XM_011529845.1:c.333C>T	XP_011528147.1:p.Leu111=
XR_937805.1:n.1155C>T
XR_937806.1:n.1150C>T
XR_937807.1:n.1150C>T
NM_001349956.1:c.795C>T	NP_001336885.1:p.Leu265=
NM_007194.4:c.996C>T MANE Select	NP_009125.1:p.Leu332=
XM_006724114.3:c.549C>T	XP_006724177.2:p.Leu183=
XM_011529839.2:c.1155C>T	XP_011528141.1:p.Leu385=
XM_011529840.3:c.1155C>T	XP_011528142.1:p.Leu385=
XM_011529842.2:c.825C>T	XP_011528144.1:p.Leu275=
XM_011529844.2:c.1155C>T	XP_011528146.1:p.Leu385=
XM_011529845.2:c.333C>T	XP_011528147.1:p.Leu111=
XM_017028560.1:c.1119C>T	XP_016884049.1:p.Leu373=
XM_017028561.2:c.333C>T	XP_016884050.1:p.Leu111=
XM_024452148.1:c.1026C>T	XP_024307916.1:p.Leu342=
XM_024452149.1:c.1026C>T	XP_024307917.1:p.Leu342=
XR_937805.2:n.1166C>T
XR_937806.2:n.1166C>T
XR_937807.2:n.1166C>T
NM_001005735.2:c.1125C>T	NP_001005735.1:p.Leu375=
NM_001257387.2:c.333C>T	NP_001244316.1:p.Leu111=
NM_001349956.2:c.795C>T	NP_001336885.1:p.Leu265=