Canonical Allele Identifier: CA10167710

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 240732
• ClinVar RCV Id: RCV000226188 ; RCV000571196 ; RCV001284138
• dbSNP Id: rs758206293
• ExAC: 22:29091753 C / T
• gnomAD v2: 22-29091753-C-T
• gnomAD v4: 22-28695765-C-T
• MyVariant Identifiers: chr22:g.29091753C>T (hg19) ; chr22:g.28695765C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695765C>T , CM000684.2:g.28695765C>T	GRCh38
NC_000022.10:g.29091753C>T , CM000684.1:g.29091753C>T	GRCh37
NC_000022.9:g.27421753C>T	NCBI36
NG_008150.1:g.51070G>A
NG_008150.2:g.51102G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-523G>A	ENSP00000518557.1:n.1009-523G>A
ENST00000402731.6:c.1003G>A	ENSP00000384835.2:p.Ala335Thr
ENST00000404276.6:c.1204G>A MANE Select	ENSP00000385747.1:p.Ala402Thr
ENST00000425190.7:c.541G>A	ENSP00000390244.2:p.Ala181Thr
ENST00000464581.6:c.544G>A	ENSP00000483777.2:p.Ala182Thr
ENST00000648295.1:n.756G>A
ENST00000649563.1:c.541G>A	ENSP00000496928.1:p.Ala181Thr
ENST00000650281.1:c.1204G>A	ENSP00000497000.1:p.Ala402Thr
ENST00000328354.10:c.1204G>A	ENSP00000329178.6:p.Ala402Thr
ENST00000348295.7:c.1117G>A	ENSP00000329012.5:p.Ala373Thr
ENST00000382580.6:c.1333G>A	ENSP00000372023.2:p.Ala445Thr
ENST00000402731.5:c.1117G>A	ENSP00000384835.1:p.Ala373Thr
ENST00000403642.5:c.931G>A	ENSP00000384919.1:p.Ala311Thr
ENST00000404276.5:c.1204G>A	ENSP00000385747.1:p.Ala402Thr
ENST00000405598.5:c.1204G>A	ENSP00000386087.1:p.Ala402Thr
ENST00000416671.5:c.*694G>A	ENSP00000402225.1:n.*694G>A
ENST00000417588.5:c.1113G>A	ENSP00000412901.1:n.1113G>A
ENST00000433728.5:c.1142G>A	ENSP00000404400.1:n.1142G>A
ENST00000434810.5:c.435G>A
ENST00000448511.5:c.1094G>A	ENSP00000404567.1:n.1094G>A
ENST00000456369.5:c.263+4073G>A
NM_001005735.1:c.1333G>A	NP_001005735.1:p.Ala445Thr
NM_001257387.1:c.541G>A	NP_001244316.1:p.Ala181Thr
NM_007194.3:c.1204G>A	NP_009125.1:p.Ala402Thr
NM_145862.2:c.1117G>A	NP_665861.1:p.Ala373Thr
XM_006724114.2:c.724G>A	XP_006724177.1:p.Ala242Thr
XM_006724116.2:c.661G>A	XP_006724179.2:p.Ala221Thr
XM_011529839.1:c.1363G>A	XP_011528141.1:p.Ala455Thr
XM_011529840.1:c.1276G>A	XP_011528142.1:p.Ala426Thr
XM_011529841.1:c.1132G>A	XP_011528143.1:p.Ala378Thr
XM_011529842.1:c.1033G>A	XP_011528144.1:p.Ala345Thr
XM_011529843.1:c.1003G>A	XP_011528145.1:p.Ala335Thr
XM_011529845.1:c.541G>A	XP_011528147.1:p.Ala181Thr
XR_937805.1:n.1363G>A
NM_001349956.1:c.1003G>A	NP_001336885.1:p.Ala335Thr
NM_007194.4:c.1204G>A MANE Select	NP_009125.1:p.Ala402Thr
XM_006724114.3:c.757G>A	XP_006724177.2:p.Ala253Thr
XM_011529839.2:c.1363G>A	XP_011528141.1:p.Ala455Thr
XM_011529840.3:c.1276G>A	XP_011528142.1:p.Ala426Thr
XM_011529842.2:c.1033G>A	XP_011528144.1:p.Ala345Thr
XM_011529845.2:c.541G>A	XP_011528147.1:p.Ala181Thr
XM_017028560.1:c.1327G>A	XP_016884049.1:p.Ala443Thr
XM_017028561.2:c.541G>A	XP_016884050.1:p.Ala181Thr
XM_024452148.1:c.1234G>A	XP_024307916.1:p.Ala412Thr
XM_024452149.1:c.1147G>A	XP_024307917.1:p.Ala383Thr
XR_937805.2:n.1374G>A
NM_001005735.2:c.1333G>A	NP_001005735.1:p.Ala445Thr
NM_001257387.2:c.541G>A	NP_001244316.1:p.Ala181Thr
NM_001349956.2:c.1003G>A	NP_001336885.1:p.Ala335Thr