Canonical Allele Identifier: CA323028199

Gene: CHEK2

Linked Data

• dbSNP Id: rs149809926
• gnomAD v2: 22-29115150-C-T
• gnomAD v3: 22-28719162-C-T
• gnomAD v4: 22-28719162-C-T
• MyVariant Identifiers: chr22:g.29115150C>T (hg19) ; chr22:g.28719162C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28719162C>T , CM000684.2:g.28719162C>T	GRCh38
NC_000022.10:g.29115150C>T , CM000684.1:g.29115150C>T	GRCh37
NC_000022.9:g.27445150C>T	NCBI36
NG_008150.1:g.27673G>A
NG_008150.2:g.27705G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000439346.6:c.592+5815G>A	ENSP00000396903.2:n.592+5815G>A
ENST00000711048.1:c.683+233G>A	ENSP00000518557.1:n.683+233G>A
ENST00000402731.6:c.482+5724G>A	ENSP00000384835.2:n.482+5724G>A
ENST00000404276.6:c.683+233G>A MANE Select	ENSP00000385747.1:n.683+233G>A
ENST00000425190.7:c.20+233G>A	ENSP00000390244.2:n.20+233G>A
ENST00000649563.1:c.20+233G>A	ENSP00000496928.1:n.20+233G>A
ENST00000650281.1:c.683+233G>A	ENSP00000497000.1:n.683+233G>A
ENST00000328354.10:c.683+233G>A	ENSP00000329178.6:n.683+233G>A
ENST00000348295.7:c.683+233G>A	ENSP00000329012.5:n.683+233G>A
ENST00000382580.6:c.812+233G>A	ENSP00000372023.2:n.812+233G>A
ENST00000402731.5:c.683+233G>A	ENSP00000384835.1:n.683+233G>A
ENST00000403642.5:c.410+233G>A	ENSP00000384919.1:n.410+233G>A
ENST00000404276.5:c.683+233G>A	ENSP00000385747.1:n.683+233G>A
ENST00000405598.5:c.683+233G>A	ENSP00000386087.1:n.683+233G>A
ENST00000416671.5:c.*173+233G>A	ENSP00000402225.1:n.*173+233G>A
ENST00000417588.5:c.592+5815G>A	ENSP00000412901.1:n.592+5815G>A
ENST00000425190.6:c.20+233G>A	ENSP00000390244.1:n.20+233G>A
ENST00000433028.6:c.*408+233G>A	ENSP00000403659.1:n.*408+233G>A
ENST00000433728.5:c.683+233G>A	ENSP00000404400.1:n.683+233G>A
ENST00000439200.5:c.776+233G>A	ENSP00000408065.1:n.776+233G>A
ENST00000439346.5:c.154+5815G>A	ENSP00000396903.1:n.154+5815G>A
ENST00000447421.5:c.482+5724G>A	ENSP00000397478.2:n.482+5724G>A
ENST00000448511.5:c.573+233G>A	ENSP00000404567.1:n.573+233G>A
NM_001005735.1:c.812+233G>A	NP_001005735.1:n.812+233G>A
NM_001257387.1:c.20+233G>A	NP_001244316.1:n.20+233G>A
NM_007194.3:c.683+233G>A	NP_009125.1:n.683+233G>A
NM_145862.2:c.683+233G>A	NP_665861.1:n.683+233G>A
XM_011529839.1:c.842+233G>A	XP_011528141.1:n.842+233G>A
XM_011529840.1:c.842+233G>A	XP_011528142.1:n.842+233G>A
XM_011529841.1:c.611+5724G>A	XP_011528143.1:n.611+5724G>A
XM_011529842.1:c.512+5724G>A	XP_011528144.1:n.512+5724G>A
XM_011529843.1:c.482+5724G>A	XP_011528145.1:n.482+5724G>A
XM_011529844.1:c.842+233G>A	XP_011528146.1:n.842+233G>A
XM_011529845.1:c.20+233G>A	XP_011528147.1:n.20+233G>A
XR_937805.1:n.904+233G>A
XR_937806.1:n.899+233G>A
XR_937807.1:n.899+233G>A
NM_001349956.1:c.482+5724G>A	NP_001336885.1:n.482+5724G>A
NM_007194.4:c.683+233G>A MANE Select	NP_009125.1:n.683+233G>A
XM_011529839.2:c.842+233G>A	XP_011528141.1:n.842+233G>A
XM_011529840.3:c.842+233G>A	XP_011528142.1:n.842+233G>A
XM_011529842.2:c.512+5724G>A	XP_011528144.1:n.512+5724G>A
XM_011529844.2:c.842+233G>A	XP_011528146.1:n.842+233G>A
XM_011529845.2:c.20+233G>A	XP_011528147.1:n.20+233G>A
XM_017028560.1:c.806+233G>A	XP_016884049.1:n.806+233G>A
XM_017028561.2:c.20+233G>A	XP_016884050.1:n.20+233G>A
XM_024452148.1:c.713+233G>A	XP_024307916.1:n.713+233G>A
XM_024452149.1:c.713+233G>A	XP_024307917.1:n.713+233G>A
XR_937805.2:n.915+233G>A
XR_937806.2:n.915+233G>A
XR_937807.2:n.915+233G>A
NM_001005735.2:c.812+233G>A	NP_001005735.1:n.812+233G>A
NM_001257387.2:c.20+233G>A	NP_001244316.1:n.20+233G>A
NM_001349956.2:c.482+5724G>A	NP_001336885.1:n.482+5724G>A