Canonical Allele Identifier: CA411097546

Gene: CHEK2

Linked Data

• dbSNP Id: rs2052607303
• MyVariant Identifiers: chr22:g.29092909C>G (hg19) ; chr22:g.28696921C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696921C>G , CM000684.2:g.28696921C>G	GRCh38
NC_000022.10:g.29092909C>G , CM000684.1:g.29092909C>G	GRCh37
NC_000022.9:g.27422909C>G	NCBI36
NG_008150.1:g.49914G>C
NG_008150.2:g.49946G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1679G>C	ENSP00000518557.1:n.1009-1679G>C
ENST00000402731.6:c.874G>C	ENSP00000384835.2:p.Glu292Gln
ENST00000404276.6:c.1075G>C MANE Select	ENSP00000385747.1:p.Glu359Gln
ENST00000425190.7:c.412G>C	ENSP00000390244.2:p.Glu138Gln
ENST00000464581.6:c.415G>C	ENSP00000483777.2:p.Glu139Gln
ENST00000648295.1:n.627G>C
ENST00000649563.1:c.412G>C	ENSP00000496928.1:p.Glu138Gln
ENST00000650281.1:c.1075G>C	ENSP00000497000.1:p.Glu359Gln
ENST00000328354.10:c.1075G>C	ENSP00000329178.6:p.Glu359Gln
ENST00000348295.7:c.1009-1048G>C	ENSP00000329012.5:n.1009-1048G>C
ENST00000382580.6:c.1204G>C	ENSP00000372023.2:p.Glu402Gln
ENST00000402731.5:c.1009-1048G>C	ENSP00000384835.1:n.1009-1048G>C
ENST00000403642.5:c.802G>C	ENSP00000384919.1:p.Glu268Gln
ENST00000404276.5:c.1075G>C	ENSP00000385747.1:p.Glu359Gln
ENST00000405598.5:c.1075G>C	ENSP00000386087.1:p.Glu359Gln
ENST00000416671.5:c.*565G>C	ENSP00000402225.1:n.*565G>C
ENST00000417588.5:c.984G>C	ENSP00000412901.1:n.984G>C
ENST00000433028.6:c.*800G>C	ENSP00000403659.1:n.*800G>C
ENST00000433728.5:c.1013G>C	ENSP00000404400.1:n.1013G>C
ENST00000434810.5:c.306G>C
ENST00000447421.5:c.874G>C	ENSP00000397478.2:p.Glu292Gln
ENST00000448511.5:c.965G>C	ENSP00000404567.1:n.965G>C
ENST00000456369.5:c.263+2917G>C
NM_001005735.1:c.1204G>C	NP_001005735.1:p.Glu402Gln
NM_001257387.1:c.412G>C	NP_001244316.1:p.Glu138Gln
NM_007194.3:c.1075G>C	NP_009125.1:p.Glu359Gln
NM_145862.2:c.1009-1048G>C	NP_665861.1:n.1009-1048G>C
XM_006724114.2:c.595G>C	XP_006724177.1:p.Glu199Gln
XM_006724116.2:c.532G>C	XP_006724179.2:p.Glu178Gln
XM_011529839.1:c.1234G>C	XP_011528141.1:p.Glu412Gln
XM_011529840.1:c.1168-1048G>C	XP_011528142.1:n.1168-1048G>C
XM_011529841.1:c.1003G>C	XP_011528143.1:p.Glu335Gln
XM_011529842.1:c.904G>C	XP_011528144.1:p.Glu302Gln
XM_011529843.1:c.874G>C	XP_011528145.1:p.Glu292Gln
XM_011529845.1:c.412G>C	XP_011528147.1:p.Glu138Gln
XR_937805.1:n.1234G>C
XR_937806.1:n.1163-1048G>C
NM_001349956.1:c.874G>C	NP_001336885.1:p.Glu292Gln
NM_007194.4:c.1075G>C MANE Select	NP_009125.1:p.Glu359Gln
XM_006724114.3:c.628G>C	XP_006724177.2:p.Glu210Gln
XM_011529839.2:c.1234G>C	XP_011528141.1:p.Glu412Gln
XM_011529840.3:c.1168-1048G>C	XP_011528142.1:n.1168-1048G>C
XM_011529842.2:c.904G>C	XP_011528144.1:p.Glu302Gln
XM_011529845.2:c.412G>C	XP_011528147.1:p.Glu138Gln
XM_017028560.1:c.1198G>C	XP_016884049.1:p.Glu400Gln
XM_017028561.2:c.412G>C	XP_016884050.1:p.Glu138Gln
XM_024452148.1:c.1105G>C	XP_024307916.1:p.Glu369Gln
XM_024452149.1:c.1039-1048G>C	XP_024307917.1:n.1039-1048G>C
XR_937805.2:n.1245G>C
XR_937806.2:n.1179-1048G>C
NM_001005735.2:c.1204G>C	NP_001005735.1:p.Glu402Gln
NM_001257387.2:c.412G>C	NP_001244316.1:p.Glu138Gln
NM_001349956.2:c.874G>C	NP_001336885.1:p.Glu292Gln