Canonical Allele Identifier: CA411097656

Gene: CHEK2

Linked Data

• dbSNP Id: rs587782268
• MyVariant Identifiers: chr22:g.29092931C>G (hg19) ; chr22:g.28696943C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696943C>G , CM000684.2:g.28696943C>G	GRCh38
NC_000022.10:g.29092931C>G , CM000684.1:g.29092931C>G	GRCh37
NC_000022.9:g.27422931C>G	NCBI36
NG_008150.1:g.49892G>C
NG_008150.2:g.49924G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1701G>C	ENSP00000518557.1:n.1009-1701G>C
ENST00000402731.6:c.852G>C	ENSP00000384835.2:p.Glu284Asp
ENST00000404276.6:c.1053G>C MANE Select	ENSP00000385747.1:p.Glu351Asp
ENST00000425190.7:c.390G>C	ENSP00000390244.2:p.Glu130Asp
ENST00000464581.6:c.393G>C	ENSP00000483777.2:p.Glu131Asp
ENST00000648295.1:n.605G>C
ENST00000649563.1:c.390G>C	ENSP00000496928.1:p.Glu130Asp
ENST00000650281.1:c.1053G>C	ENSP00000497000.1:p.Glu351Asp
ENST00000328354.10:c.1053G>C	ENSP00000329178.6:p.Glu351Asp
ENST00000348295.7:c.1009-1070G>C	ENSP00000329012.5:n.1009-1070G>C
ENST00000382580.6:c.1182G>C	ENSP00000372023.2:p.Glu394Asp
ENST00000402731.5:c.1009-1070G>C	ENSP00000384835.1:n.1009-1070G>C
ENST00000403642.5:c.780G>C	ENSP00000384919.1:p.Glu260Asp
ENST00000404276.5:c.1053G>C	ENSP00000385747.1:p.Glu351Asp
ENST00000405598.5:c.1053G>C	ENSP00000386087.1:p.Glu351Asp
ENST00000416671.5:c.*543G>C	ENSP00000402225.1:n.*543G>C
ENST00000417588.5:c.962G>C	ENSP00000412901.1:n.962G>C
ENST00000433028.6:c.*778G>C	ENSP00000403659.1:n.*778G>C
ENST00000433728.5:c.991G>C	ENSP00000404400.1:n.991G>C
ENST00000434810.5:c.284G>C
ENST00000447421.5:c.852G>C	ENSP00000397478.2:p.Glu284Asp
ENST00000448511.5:c.943G>C	ENSP00000404567.1:n.943G>C
ENST00000456369.5:c.263+2895G>C
ENST00000464581.5:c.393G>C	ENSP00000483777.1:p.Glu131Asp
NM_001005735.1:c.1182G>C	NP_001005735.1:p.Glu394Asp
NM_001257387.1:c.390G>C	NP_001244316.1:p.Glu130Asp
NM_007194.3:c.1053G>C	NP_009125.1:p.Glu351Asp
NM_145862.2:c.1009-1070G>C	NP_665861.1:n.1009-1070G>C
XM_006724114.2:c.573G>C	XP_006724177.1:p.Glu191Asp
XM_006724116.2:c.510G>C	XP_006724179.2:p.Glu170Asp
XM_011529839.1:c.1212G>C	XP_011528141.1:p.Glu404Asp
XM_011529840.1:c.1168-1070G>C	XP_011528142.1:n.1168-1070G>C
XM_011529841.1:c.981G>C	XP_011528143.1:p.Glu327Asp
XM_011529842.1:c.882G>C	XP_011528144.1:p.Glu294Asp
XM_011529843.1:c.852G>C	XP_011528145.1:p.Glu284Asp
XM_011529845.1:c.390G>C	XP_011528147.1:p.Glu130Asp
XR_937805.1:n.1212G>C
XR_937806.1:n.1163-1070G>C
NM_001349956.1:c.852G>C	NP_001336885.1:p.Glu284Asp
NM_007194.4:c.1053G>C MANE Select	NP_009125.1:p.Glu351Asp
XM_006724114.3:c.606G>C	XP_006724177.2:p.Glu202Asp
XM_011529839.2:c.1212G>C	XP_011528141.1:p.Glu404Asp
XM_011529840.3:c.1168-1070G>C	XP_011528142.1:n.1168-1070G>C
XM_011529842.2:c.882G>C	XP_011528144.1:p.Glu294Asp
XM_011529845.2:c.390G>C	XP_011528147.1:p.Glu130Asp
XM_017028560.1:c.1176G>C	XP_016884049.1:p.Glu392Asp
XM_017028561.2:c.390G>C	XP_016884050.1:p.Glu130Asp
XM_024452148.1:c.1083G>C	XP_024307916.1:p.Glu361Asp
XM_024452149.1:c.1039-1070G>C	XP_024307917.1:n.1039-1070G>C
XR_937805.2:n.1223G>C
XR_937806.2:n.1179-1070G>C
NM_001005735.2:c.1182G>C	NP_001005735.1:p.Glu394Asp
NM_001257387.2:c.390G>C	NP_001244316.1:p.Glu130Asp
NM_001349956.2:c.852G>C	NP_001336885.1:p.Glu284Asp