Canonical Allele Identifier: CA2577675912

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 2157322
• ClinVar RCV Id: RCV003078037
• gnomAD v4: 22-28695890-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695890A>G , CM000684.2:g.28695890A>G	GRCh38
NC_000022.10:g.29091878A>G , CM000684.1:g.29091878A>G	GRCh37
NC_000022.9:g.27421878A>G	NCBI36
NG_008150.1:g.50945T>C
NG_008150.2:g.50977T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-648T>C	ENSP00000518557.1:n.1009-648T>C
ENST00000402731.6:c.895-17T>C	ENSP00000384835.2:n.895-17T>C
ENST00000404276.6:c.1096-17T>C MANE Select	ENSP00000385747.1:n.1096-17T>C
ENST00000425190.7:c.433-17T>C	ENSP00000390244.2:n.433-17T>C
ENST00000464581.6:c.436-17T>C	ENSP00000483777.2:n.436-17T>C
ENST00000648295.1:n.648-17T>C
ENST00000649563.1:c.433-17T>C	ENSP00000496928.1:n.433-17T>C
ENST00000650281.1:c.1096-17T>C	ENSP00000497000.1:n.1096-17T>C
ENST00000328354.10:c.1096-17T>C	ENSP00000329178.6:n.1096-17T>C
ENST00000348295.7:c.1009-17T>C	ENSP00000329012.5:n.1009-17T>C
ENST00000382580.6:c.1225-17T>C	ENSP00000372023.2:n.1225-17T>C
ENST00000402731.5:c.1009-17T>C	ENSP00000384835.1:n.1009-17T>C
ENST00000403642.5:c.823-17T>C	ENSP00000384919.1:n.823-17T>C
ENST00000404276.5:c.1096-17T>C	ENSP00000385747.1:n.1096-17T>C
ENST00000405598.5:c.1096-17T>C	ENSP00000386087.1:n.1096-17T>C
ENST00000416671.5:c.*586-17T>C	ENSP00000402225.1:n.*586-17T>C
ENST00000417588.5:c.1005-17T>C	ENSP00000412901.1:n.1005-17T>C
ENST00000433728.5:c.1034-17T>C	ENSP00000404400.1:n.1034-17T>C
ENST00000434810.5:c.327-17T>C
ENST00000448511.5:c.986-17T>C	ENSP00000404567.1:n.986-17T>C
ENST00000456369.5:c.263+3948T>C
NM_001005735.1:c.1225-17T>C	NP_001005735.1:n.1225-17T>C
NM_001257387.1:c.433-17T>C	NP_001244316.1:n.433-17T>C
NM_007194.3:c.1096-17T>C	NP_009125.1:n.1096-17T>C
NM_145862.2:c.1009-17T>C	NP_665861.1:n.1009-17T>C
XM_006724114.2:c.616-17T>C	XP_006724177.1:n.616-17T>C
XM_006724116.2:c.553-17T>C	XP_006724179.2:n.553-17T>C
XM_011529839.1:c.1255-17T>C	XP_011528141.1:n.1255-17T>C
XM_011529840.1:c.1168-17T>C	XP_011528142.1:n.1168-17T>C
XM_011529841.1:c.1024-17T>C	XP_011528143.1:n.1024-17T>C
XM_011529842.1:c.925-17T>C	XP_011528144.1:n.925-17T>C
XM_011529843.1:c.895-17T>C	XP_011528145.1:n.895-17T>C
XM_011529845.1:c.433-17T>C	XP_011528147.1:n.433-17T>C
XR_937805.1:n.1255-17T>C
XR_937806.1:n.1163-17T>C
NM_001349956.1:c.895-17T>C	NP_001336885.1:n.895-17T>C
NM_007194.4:c.1096-17T>C MANE Select	NP_009125.1:n.1096-17T>C
XM_006724114.3:c.649-17T>C	XP_006724177.2:n.649-17T>C
XM_011529839.2:c.1255-17T>C	XP_011528141.1:n.1255-17T>C
XM_011529840.3:c.1168-17T>C	XP_011528142.1:n.1168-17T>C
XM_011529842.2:c.925-17T>C	XP_011528144.1:n.925-17T>C
XM_011529845.2:c.433-17T>C	XP_011528147.1:n.433-17T>C
XM_017028560.1:c.1219-17T>C	XP_016884049.1:n.1219-17T>C
XM_017028561.2:c.433-17T>C	XP_016884050.1:n.433-17T>C
XM_024452148.1:c.1126-17T>C	XP_024307916.1:n.1126-17T>C
XM_024452149.1:c.1039-17T>C	XP_024307917.1:n.1039-17T>C
XR_937805.2:n.1266-17T>C
XR_937806.2:n.1179-17T>C
NM_001005735.2:c.1225-17T>C	NP_001005735.1:n.1225-17T>C
NM_001257387.2:c.433-17T>C	NP_001244316.1:n.433-17T>C
NM_001349956.2:c.895-17T>C	NP_001336885.1:n.895-17T>C