Canonical Allele Identifier: CA10167980

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 479596
• ClinVar RCV Id: RCV003767103
• dbSNP Id: rs754689169
• ExAC: 22:29120987 T / A
• gnomAD v2: 22-29120987-T-A
• MyVariant Identifiers: chr22:g.29120987T>A (hg19) ; chr22:g.28724999T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28724999T>A , CM000684.2:g.28724999T>A	GRCh38
NC_000022.10:g.29120987T>A , CM000684.1:g.29120987T>A	GRCh37
NC_000022.9:g.27450987T>A	NCBI36
NG_008150.1:g.21836A>T
NG_008150.2:g.21868A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000439346.6:c.570A>T	ENSP00000396903.2:p.Ala190=
ENST00000454252.2:c.*550A>T	ENSP00000387451.2:n.*550A>T
ENST00000711048.1:c.570A>T	ENSP00000518557.1:p.Ala190=
ENST00000402731.6:c.445-76A>T	ENSP00000384835.2:n.445-76A>T
ENST00000404276.6:c.570A>T MANE Select	ENSP00000385747.1:p.Ala190=
ENST00000425190.7:c.-94A>T	ENSP00000390244.2:n.-94A>T
ENST00000649563.1:c.-71-5514A>T	ENSP00000496928.1:n.-71-5514A>T
ENST00000650281.1:c.570A>T	ENSP00000497000.1:p.Ala190=
ENST00000328354.10:c.570A>T	ENSP00000329178.6:p.Ala190=
ENST00000348295.7:c.570A>T	ENSP00000329012.5:p.Ala190=
ENST00000382565.5:c.570A>T	ENSP00000372006.2:p.Ala190=
ENST00000382580.6:c.699A>T	ENSP00000372023.2:p.Ala233=
ENST00000402731.5:c.570A>T	ENSP00000384835.1:p.Ala190=
ENST00000403642.5:c.320-5514A>T	ENSP00000384919.1:n.320-5514A>T
ENST00000404276.5:c.570A>T	ENSP00000385747.1:p.Ala190=
ENST00000405598.5:c.570A>T	ENSP00000386087.1:p.Ala190=
ENST00000416671.5:c.570A>T	ENSP00000402225.1:p.Ala190=
ENST00000417588.5:c.570A>T	ENSP00000412901.1:p.Ala190=
ENST00000425190.6:c.-94A>T	ENSP00000390244.1:n.-94A>T
ENST00000433028.6:c.445-76A>T	ENSP00000403659.1:n.445-76A>T
ENST00000433728.5:c.570A>T	ENSP00000404400.1:p.Ala190=
ENST00000439200.5:c.663A>T	ENSP00000408065.1:p.Ala221=
ENST00000439346.5:c.132A>T	ENSP00000396903.1:p.Ala44=
ENST00000447421.5:c.445-76A>T	ENSP00000397478.2:n.445-76A>T
ENST00000448511.5:c.445-76A>T	ENSP00000404567.1:n.445-76A>T
ENST00000454252.1:c.688A>T	ENSP00000387451.1:n.688A>T
NM_001005735.1:c.699A>T	NP_001005735.1:p.Ala233=
NM_001257387.1:c.-208A>T	NP_001244316.1:n.-208A>T
NM_007194.3:c.570A>T	NP_009125.1:p.Ala190=
NM_145862.2:c.570A>T	NP_665861.1:p.Ala190=
XM_011529839.1:c.729A>T	XP_011528141.1:p.Ala243=
XM_011529840.1:c.729A>T	XP_011528142.1:p.Ala243=
XM_011529841.1:c.574-76A>T	XP_011528143.1:n.574-76A>T
XM_011529842.1:c.475-76A>T	XP_011528144.1:n.475-76A>T
XM_011529843.1:c.445-76A>T	XP_011528145.1:n.445-76A>T
XM_011529844.1:c.729A>T	XP_011528146.1:p.Ala243=
XM_011529845.1:c.-94A>T	XP_011528147.1:n.-94A>T
XR_937805.1:n.791A>T
XR_937806.1:n.786A>T
XR_937807.1:n.786A>T
NM_001349956.1:c.445-76A>T	NP_001336885.1:n.445-76A>T
NM_007194.4:c.570A>T MANE Select	NP_009125.1:p.Ala190=
XM_011529839.2:c.729A>T	XP_011528141.1:p.Ala243=
XM_011529840.3:c.729A>T	XP_011528142.1:p.Ala243=
XM_011529842.2:c.475-76A>T	XP_011528144.1:n.475-76A>T
XM_011529844.2:c.729A>T	XP_011528146.1:p.Ala243=
XM_011529845.2:c.-94A>T	XP_011528147.1:n.-94A>T
XM_017028560.1:c.693A>T	XP_016884049.1:p.Ala231=
XM_024452148.1:c.600A>T	XP_024307916.1:p.Ala200=
XM_024452149.1:c.600A>T	XP_024307917.1:p.Ala200=
XR_937805.2:n.802A>T
XR_937806.2:n.802A>T
XR_937807.2:n.802A>T
NM_001005735.2:c.699A>T	NP_001005735.1:p.Ala233=
NM_001257387.2:c.-208A>T	NP_001244316.1:n.-208A>T
NM_001349956.2:c.445-76A>T	NP_001336885.1:n.445-76A>T