Canonical Allele Identifier: CA411097776

Gene: CHEK2

Linked Data

• gnomAD v4: 22-28696969-T-G
• MyVariant Identifiers: chr22:g.29092957T>G (hg19) ; chr22:g.28696969T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696969T>G , CM000684.2:g.28696969T>G	GRCh38
NC_000022.10:g.29092957T>G , CM000684.1:g.29092957T>G	GRCh37
NC_000022.9:g.27422957T>G	NCBI36
NG_008150.1:g.49866A>C
NG_008150.2:g.49898A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1727A>C	ENSP00000518557.1:n.1009-1727A>C
ENST00000402731.6:c.826A>C	ENSP00000384835.2:p.Ile276Leu
ENST00000404276.6:c.1027A>C MANE Select	ENSP00000385747.1:p.Ile343Leu
ENST00000425190.7:c.364A>C	ENSP00000390244.2:p.Ile122Leu
ENST00000464581.6:c.367A>C	ENSP00000483777.2:p.Ile123Leu
ENST00000648295.1:n.579A>C
ENST00000649563.1:c.364A>C	ENSP00000496928.1:p.Ile122Leu
ENST00000650281.1:c.1027A>C	ENSP00000497000.1:p.Ile343Leu
ENST00000328354.10:c.1027A>C	ENSP00000329178.6:p.Ile343Leu
ENST00000348295.7:c.1009-1096A>C	ENSP00000329012.5:n.1009-1096A>C
ENST00000382580.6:c.1156A>C	ENSP00000372023.2:p.Ile386Leu
ENST00000402731.5:c.1009-1096A>C	ENSP00000384835.1:n.1009-1096A>C
ENST00000403642.5:c.754A>C	ENSP00000384919.1:p.Ile252Leu
ENST00000404276.5:c.1027A>C	ENSP00000385747.1:p.Ile343Leu
ENST00000405598.5:c.1027A>C	ENSP00000386087.1:p.Ile343Leu
ENST00000416671.5:c.*517A>C	ENSP00000402225.1:n.*517A>C
ENST00000417588.5:c.936A>C	ENSP00000412901.1:n.936A>C
ENST00000425190.6:c.364A>C
ENST00000433028.6:c.*752A>C	ENSP00000403659.1:n.*752A>C
ENST00000433728.5:c.965A>C	ENSP00000404400.1:n.965A>C
ENST00000434810.5:c.258A>C
ENST00000447421.5:c.826A>C	ENSP00000397478.2:p.Ile276Leu
ENST00000448511.5:c.917A>C	ENSP00000404567.1:n.917A>C
ENST00000456369.5:c.263+2869A>C
ENST00000464581.5:c.367A>C	ENSP00000483777.1:p.Ile123Leu
ENST00000491919.5:n.584A>C
NM_001005735.1:c.1156A>C	NP_001005735.1:p.Ile386Leu
NM_001257387.1:c.364A>C	NP_001244316.1:p.Ile122Leu
NM_007194.3:c.1027A>C	NP_009125.1:p.Ile343Leu
NM_145862.2:c.1009-1096A>C	NP_665861.1:n.1009-1096A>C
XM_006724114.2:c.547A>C	XP_006724177.1:p.Ile183Leu
XM_006724116.2:c.484A>C	XP_006724179.2:p.Ile162Leu
XM_011529839.1:c.1186A>C	XP_011528141.1:p.Ile396Leu
XM_011529840.1:c.1168-1096A>C	XP_011528142.1:n.1168-1096A>C
XM_011529841.1:c.955A>C	XP_011528143.1:p.Ile319Leu
XM_011529842.1:c.856A>C	XP_011528144.1:p.Ile286Leu
XM_011529843.1:c.826A>C	XP_011528145.1:p.Ile276Leu
XM_011529845.1:c.364A>C	XP_011528147.1:p.Ile122Leu
XR_937805.1:n.1186A>C
XR_937806.1:n.1163-1096A>C
NM_001349956.1:c.826A>C	NP_001336885.1:p.Ile276Leu
NM_007194.4:c.1027A>C MANE Select	NP_009125.1:p.Ile343Leu
XM_006724114.3:c.580A>C	XP_006724177.2:p.Ile194Leu
XM_011529839.2:c.1186A>C	XP_011528141.1:p.Ile396Leu
XM_011529840.3:c.1168-1096A>C	XP_011528142.1:n.1168-1096A>C
XM_011529842.2:c.856A>C	XP_011528144.1:p.Ile286Leu
XM_011529845.2:c.364A>C	XP_011528147.1:p.Ile122Leu
XM_017028560.1:c.1150A>C	XP_016884049.1:p.Ile384Leu
XM_017028561.2:c.364A>C	XP_016884050.1:p.Ile122Leu
XM_024452148.1:c.1057A>C	XP_024307916.1:p.Ile353Leu
XM_024452149.1:c.1039-1096A>C	XP_024307917.1:n.1039-1096A>C
XR_937805.2:n.1197A>C
XR_937806.2:n.1179-1096A>C
NM_001005735.2:c.1156A>C	NP_001005735.1:p.Ile386Leu
NM_001257387.2:c.364A>C	NP_001244316.1:p.Ile122Leu
NM_001349956.2:c.826A>C	NP_001336885.1:p.Ile276Leu