Canonical Allele Identifier: CA411096758

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 1473608
• ClinVar RCV Id: RCV001969574
• dbSNP Id: rs758206293
• MyVariant Identifiers: chr22:g.29091753C>A (hg19) ; chr22:g.28695765C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-523G>T	ENSP00000518557.1:n.1009-523G>T
ENST00000402731.6:c.1003G>T	ENSP00000384835.2:p.Ala335Ser
ENST00000404276.6:c.1204G>T MANE Select	ENSP00000385747.1:p.Ala402Ser
ENST00000425190.7:c.541G>T	ENSP00000390244.2:p.Ala181Ser
ENST00000464581.6:c.544G>T	ENSP00000483777.2:p.Ala182Ser
ENST00000648295.1:n.756G>T
ENST00000649563.1:c.541G>T	ENSP00000496928.1:p.Ala181Ser
ENST00000650281.1:c.1204G>T	ENSP00000497000.1:p.Ala402Ser
ENST00000328354.10:c.1204G>T	ENSP00000329178.6:p.Ala402Ser
ENST00000348295.7:c.1117G>T	ENSP00000329012.5:p.Ala373Ser
ENST00000382580.6:c.1333G>T	ENSP00000372023.2:p.Ala445Ser
ENST00000402731.5:c.1117G>T	ENSP00000384835.1:p.Ala373Ser
ENST00000403642.5:c.931G>T	ENSP00000384919.1:p.Ala311Ser
ENST00000404276.5:c.1204G>T	ENSP00000385747.1:p.Ala402Ser
ENST00000405598.5:c.1204G>T	ENSP00000386087.1:p.Ala402Ser
ENST00000416671.5:c.*694G>T	ENSP00000402225.1:n.*694G>T
ENST00000417588.5:c.1113G>T	ENSP00000412901.1:n.1113G>T
ENST00000433728.5:c.1142G>T	ENSP00000404400.1:n.1142G>T
ENST00000434810.5:c.435G>T
ENST00000448511.5:c.1094G>T	ENSP00000404567.1:n.1094G>T
ENST00000456369.5:c.263+4073G>T
NM_001005735.1:c.1333G>T	NP_001005735.1:p.Ala445Ser
NM_001257387.1:c.541G>T	NP_001244316.1:p.Ala181Ser
NM_007194.3:c.1204G>T	NP_009125.1:p.Ala402Ser
NM_145862.2:c.1117G>T	NP_665861.1:p.Ala373Ser
XM_006724114.2:c.724G>T	XP_006724177.1:p.Ala242Ser
XM_006724116.2:c.661G>T	XP_006724179.2:p.Ala221Ser
XM_011529839.1:c.1363G>T	XP_011528141.1:p.Ala455Ser
XM_011529840.1:c.1276G>T	XP_011528142.1:p.Ala426Ser
XM_011529841.1:c.1132G>T	XP_011528143.1:p.Ala378Ser
XM_011529842.1:c.1033G>T	XP_011528144.1:p.Ala345Ser
XM_011529843.1:c.1003G>T	XP_011528145.1:p.Ala335Ser
XM_011529845.1:c.541G>T	XP_011528147.1:p.Ala181Ser
XR_937805.1:n.1363G>T
NM_001349956.1:c.1003G>T	NP_001336885.1:p.Ala335Ser
NM_007194.4:c.1204G>T MANE Select	NP_009125.1:p.Ala402Ser
XM_006724114.3:c.757G>T	XP_006724177.2:p.Ala253Ser
XM_011529839.2:c.1363G>T	XP_011528141.1:p.Ala455Ser
XM_011529840.3:c.1276G>T	XP_011528142.1:p.Ala426Ser
XM_011529842.2:c.1033G>T	XP_011528144.1:p.Ala345Ser
XM_011529845.2:c.541G>T	XP_011528147.1:p.Ala181Ser
XM_017028560.1:c.1327G>T	XP_016884049.1:p.Ala443Ser
XM_017028561.2:c.541G>T	XP_016884050.1:p.Ala181Ser
XM_024452148.1:c.1234G>T	XP_024307916.1:p.Ala412Ser
XM_024452149.1:c.1147G>T	XP_024307917.1:p.Ala383Ser
XR_937805.2:n.1374G>T
NM_001005735.2:c.1333G>T	NP_001005735.1:p.Ala445Ser
NM_001257387.2:c.541G>T	NP_001244316.1:p.Ala181Ser
NM_001349956.2:c.1003G>T	NP_001336885.1:p.Ala335Ser