Canonical Allele Identifier: CA2655953163

Gene: CHEK2

Linked Data

• gnomAD v4: 22-28697104-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28697104A>G , CM000684.2:g.28697104A>G	GRCh38
NC_000022.10:g.29093092A>G , CM000684.1:g.29093092A>G	GRCh37
NC_000022.9:g.27423092A>G	NCBI36
NG_008150.1:g.49731T>C
NG_008150.2:g.49763T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1862T>C	ENSP00000518557.1:n.1009-1862T>C
ENST00000402731.6:c.808-117T>C	ENSP00000384835.2:n.808-117T>C
ENST00000404276.6:c.1009-117T>C MANE Select	ENSP00000385747.1:n.1009-117T>C
ENST00000425190.7:c.346-117T>C	ENSP00000390244.2:n.346-117T>C
ENST00000464581.6:c.349-117T>C	ENSP00000483777.2:n.349-117T>C
ENST00000648295.1:n.561-117T>C
ENST00000649563.1:c.346-117T>C	ENSP00000496928.1:n.346-117T>C
ENST00000650281.1:c.1009-117T>C	ENSP00000497000.1:n.1009-117T>C
ENST00000328354.10:c.1009-117T>C	ENSP00000329178.6:n.1009-117T>C
ENST00000348295.7:c.1009-1231T>C	ENSP00000329012.5:n.1009-1231T>C
ENST00000382580.6:c.1138-117T>C	ENSP00000372023.2:n.1138-117T>C
ENST00000402731.5:c.1009-1231T>C	ENSP00000384835.1:n.1009-1231T>C
ENST00000403642.5:c.736-117T>C	ENSP00000384919.1:n.736-117T>C
ENST00000404276.5:c.1009-117T>C	ENSP00000385747.1:n.1009-117T>C
ENST00000405598.5:c.1009-117T>C	ENSP00000386087.1:n.1009-117T>C
ENST00000416671.5:c.*499-117T>C	ENSP00000402225.1:n.*499-117T>C
ENST00000417588.5:c.918-117T>C	ENSP00000412901.1:n.918-117T>C
ENST00000425190.6:c.346-117T>C	ENSP00000390244.1:n.346-117T>C
ENST00000433028.6:c.*734-117T>C	ENSP00000403659.1:n.*734-117T>C
ENST00000433728.5:c.947-117T>C	ENSP00000404400.1:n.947-117T>C
ENST00000434810.5:c.240-117T>C
ENST00000447421.5:c.808-117T>C	ENSP00000397478.2:n.808-117T>C
ENST00000448511.5:c.899-117T>C	ENSP00000404567.1:n.899-117T>C
ENST00000456369.5:c.263+2734T>C
ENST00000464581.5:c.349-117T>C	ENSP00000483777.1:n.349-117T>C
ENST00000491919.5:n.566-117T>C
NM_001005735.1:c.1138-117T>C	NP_001005735.1:n.1138-117T>C
NM_001257387.1:c.346-117T>C	NP_001244316.1:n.346-117T>C
NM_007194.3:c.1009-117T>C	NP_009125.1:n.1009-117T>C
NM_145862.2:c.1009-1231T>C	NP_665861.1:n.1009-1231T>C
XM_006724114.2:c.529-117T>C	XP_006724177.1:n.529-117T>C
XM_006724116.2:c.466-117T>C	XP_006724179.2:n.466-117T>C
XM_011529839.1:c.1168-117T>C	XP_011528141.1:n.1168-117T>C
XM_011529840.1:c.1168-1231T>C	XP_011528142.1:n.1168-1231T>C
XM_011529841.1:c.937-117T>C	XP_011528143.1:n.937-117T>C
XM_011529842.1:c.838-117T>C	XP_011528144.1:n.838-117T>C
XM_011529843.1:c.808-117T>C	XP_011528145.1:n.808-117T>C
XM_011529844.1:c.1193T>C	XP_011528146.1:p.Val398Ala
XM_011529845.1:c.346-117T>C	XP_011528147.1:n.346-117T>C
XR_937805.1:n.1168-117T>C
XR_937806.1:n.1163-1231T>C
XR_937807.1:n.1188T>C
NM_001349956.1:c.808-117T>C	NP_001336885.1:n.808-117T>C
NM_007194.4:c.1009-117T>C MANE Select	NP_009125.1:n.1009-117T>C
XM_006724114.3:c.562-117T>C	XP_006724177.2:n.562-117T>C
XM_011529839.2:c.1168-117T>C	XP_011528141.1:n.1168-117T>C
XM_011529840.3:c.1168-1231T>C	XP_011528142.1:n.1168-1231T>C
XM_011529842.2:c.838-117T>C	XP_011528144.1:n.838-117T>C
XM_011529844.2:c.1193T>C	XP_011528146.1:p.Val398Ala
XM_011529845.2:c.346-117T>C	XP_011528147.1:n.346-117T>C
XM_017028560.1:c.1132-117T>C	XP_016884049.1:n.1132-117T>C
XM_017028561.2:c.346-117T>C	XP_016884050.1:n.346-117T>C
XM_024452148.1:c.1039-117T>C	XP_024307916.1:n.1039-117T>C
XM_024452149.1:c.1039-1231T>C	XP_024307917.1:n.1039-1231T>C
XR_937805.2:n.1179-117T>C
XR_937806.2:n.1179-1231T>C
XR_937807.2:n.1204T>C
NM_001005735.2:c.1138-117T>C	NP_001005735.1:n.1138-117T>C
NM_001257387.2:c.346-117T>C	NP_001244316.1:n.346-117T>C
NM_001349956.2:c.808-117T>C	NP_001336885.1:n.808-117T>C