Canonical Allele Identifier: CA411106573

Gene: CHEK2

Linked Data

• dbSNP Id: rs1352797403
• gnomAD v4: 22-28724893-A-T
• MyVariant Identifiers: chr22:g.29120881A>T (hg19) ; chr22:g.28724893A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28724893A>T , CM000684.2:g.28724893A>T	GRCh38
NC_000022.10:g.29120881A>T , CM000684.1:g.29120881A>T	GRCh37
NC_000022.9:g.27450881A>T	NCBI36
NG_008150.1:g.21942T>A
NG_008150.2:g.21974T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.592+84T>A	ENSP00000396903.2:n.592+84T>A
ENST00000711048.1:c.592+84T>A	ENSP00000518557.1:n.592+84T>A
ENST00000402731.6:c.475T>A	ENSP00000384835.2:p.Trp159Arg
ENST00000404276.6:c.592+84T>A MANE Select	ENSP00000385747.1:n.592+84T>A
ENST00000425190.7:c.-72+84T>A	ENSP00000390244.2:n.-72+84T>A
ENST00000649563.1:c.-71-5408T>A	ENSP00000496928.1:n.-71-5408T>A
ENST00000650281.1:c.592+84T>A	ENSP00000497000.1:n.592+84T>A
ENST00000328354.10:c.592+84T>A	ENSP00000329178.6:n.592+84T>A
ENST00000348295.7:c.592+84T>A	ENSP00000329012.5:n.592+84T>A
ENST00000382565.5:c.592+84T>A	ENSP00000372006.2:n.592+84T>A
ENST00000382580.6:c.721+84T>A	ENSP00000372023.2:n.721+84T>A
ENST00000402731.5:c.592+84T>A	ENSP00000384835.1:n.592+84T>A
ENST00000403642.5:c.320-5408T>A	ENSP00000384919.1:n.320-5408T>A
ENST00000404276.5:c.592+84T>A	ENSP00000385747.1:n.592+84T>A
ENST00000405598.5:c.592+84T>A	ENSP00000386087.1:n.592+84T>A
ENST00000416671.5:c.592+84T>A	ENSP00000402225.1:n.592+84T>A
ENST00000417588.5:c.592+84T>A	ENSP00000412901.1:n.592+84T>A
ENST00000425190.6:c.-72+84T>A	ENSP00000390244.1:n.-72+84T>A
ENST00000433028.6:c.475T>A	ENSP00000403659.1:p.Trp159Arg
ENST00000433728.5:c.592+84T>A	ENSP00000404400.1:n.592+84T>A
ENST00000439200.5:c.685+84T>A	ENSP00000408065.1:n.685+84T>A
ENST00000439346.5:c.154+84T>A	ENSP00000396903.1:n.154+84T>A
ENST00000447421.5:c.475T>A	ENSP00000397478.2:p.Trp159Arg
ENST00000448511.5:c.475T>A	ENSP00000404567.1:p.Trp159Arg
NM_001005735.1:c.721+84T>A	NP_001005735.1:n.721+84T>A
NM_001257387.1:c.-186+84T>A	NP_001244316.1:n.-186+84T>A
NM_007194.3:c.592+84T>A	NP_009125.1:n.592+84T>A
NM_145862.2:c.592+84T>A	NP_665861.1:n.592+84T>A
XM_011529839.1:c.751+84T>A	XP_011528141.1:n.751+84T>A
XM_011529840.1:c.751+84T>A	XP_011528142.1:n.751+84T>A
XM_011529841.1:c.604T>A	XP_011528143.1:p.Trp202Arg
XM_011529842.1:c.505T>A	XP_011528144.1:p.Trp169Arg
XM_011529843.1:c.475T>A	XP_011528145.1:p.Trp159Arg
XM_011529844.1:c.751+84T>A	XP_011528146.1:n.751+84T>A
XM_011529845.1:c.-72+84T>A	XP_011528147.1:n.-72+84T>A
XR_937805.1:n.813+84T>A
XR_937806.1:n.808+84T>A
XR_937807.1:n.808+84T>A
NM_001349956.1:c.475T>A	NP_001336885.1:p.Trp159Arg
NM_007194.4:c.592+84T>A MANE Select	NP_009125.1:n.592+84T>A
XM_011529839.2:c.751+84T>A	XP_011528141.1:n.751+84T>A
XM_011529840.3:c.751+84T>A	XP_011528142.1:n.751+84T>A
XM_011529842.2:c.505T>A	XP_011528144.1:p.Trp169Arg
XM_011529844.2:c.751+84T>A	XP_011528146.1:n.751+84T>A
XM_011529845.2:c.-72+84T>A	XP_011528147.1:n.-72+84T>A
XM_017028560.1:c.715+84T>A	XP_016884049.1:n.715+84T>A
XM_017028561.2:c.-79T>A	XP_016884050.1:n.-79T>A
XM_024452148.1:c.622+84T>A	XP_024307916.1:n.622+84T>A
XM_024452149.1:c.622+84T>A	XP_024307917.1:n.622+84T>A
XR_937805.2:n.824+84T>A
XR_937806.2:n.824+84T>A
XR_937807.2:n.824+84T>A
NM_001005735.2:c.721+84T>A	NP_001005735.1:n.721+84T>A
NM_001257387.2:c.-186+84T>A	NP_001244316.1:n.-186+84T>A
NM_001349956.2:c.475T>A	NP_001336885.1:p.Trp159Arg