Canonical Allele Identifier: CA411096781

Gene: CHEK2

Linked Data

• dbSNP Id: rs1342820782
• MyVariant Identifiers: chr22:g.29091759C>G (hg19) ; chr22:g.28695771C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695771C>G , CM000684.2:g.28695771C>G	GRCh38
NC_000022.10:g.29091759C>G , CM000684.1:g.29091759C>G	GRCh37
NC_000022.9:g.27421759C>G	NCBI36
NG_008150.1:g.51064G>C
NG_008150.2:g.51096G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-529G>C	ENSP00000518557.1:n.1009-529G>C
ENST00000402731.6:c.997G>C	ENSP00000384835.2:p.Gly333Arg
ENST00000404276.6:c.1198G>C MANE Select	ENSP00000385747.1:p.Gly400Arg
ENST00000425190.7:c.535G>C	ENSP00000390244.2:p.Gly179Arg
ENST00000464581.6:c.538G>C	ENSP00000483777.2:p.Gly180Arg
ENST00000648295.1:n.750G>C
ENST00000649563.1:c.535G>C	ENSP00000496928.1:p.Gly179Arg
ENST00000650281.1:c.1198G>C	ENSP00000497000.1:p.Gly400Arg
ENST00000328354.10:c.1198G>C	ENSP00000329178.6:p.Gly400Arg
ENST00000348295.7:c.1111G>C	ENSP00000329012.5:p.Gly371Arg
ENST00000382580.6:c.1327G>C	ENSP00000372023.2:p.Gly443Arg
ENST00000402731.5:c.1111G>C	ENSP00000384835.1:p.Gly371Arg
ENST00000403642.5:c.925G>C	ENSP00000384919.1:p.Gly309Arg
ENST00000404276.5:c.1198G>C	ENSP00000385747.1:p.Gly400Arg
ENST00000405598.5:c.1198G>C	ENSP00000386087.1:p.Gly400Arg
ENST00000416671.5:c.*688G>C	ENSP00000402225.1:n.*688G>C
ENST00000417588.5:c.1107G>C	ENSP00000412901.1:n.1107G>C
ENST00000433728.5:c.1136G>C	ENSP00000404400.1:n.1136G>C
ENST00000434810.5:c.429G>C
ENST00000448511.5:c.1088G>C	ENSP00000404567.1:n.1088G>C
ENST00000456369.5:c.263+4067G>C
NM_001005735.1:c.1327G>C	NP_001005735.1:p.Gly443Arg
NM_001257387.1:c.535G>C	NP_001244316.1:p.Gly179Arg
NM_007194.3:c.1198G>C	NP_009125.1:p.Gly400Arg
NM_145862.2:c.1111G>C	NP_665861.1:p.Gly371Arg
XM_006724114.2:c.718G>C	XP_006724177.1:p.Gly240Arg
XM_006724116.2:c.655G>C	XP_006724179.2:p.Gly219Arg
XM_011529839.1:c.1357G>C	XP_011528141.1:p.Gly453Arg
XM_011529840.1:c.1270G>C	XP_011528142.1:p.Gly424Arg
XM_011529841.1:c.1126G>C	XP_011528143.1:p.Gly376Arg
XM_011529842.1:c.1027G>C	XP_011528144.1:p.Gly343Arg
XM_011529843.1:c.997G>C	XP_011528145.1:p.Gly333Arg
XM_011529845.1:c.535G>C	XP_011528147.1:p.Gly179Arg
XR_937805.1:n.1357G>C
NM_001349956.1:c.997G>C	NP_001336885.1:p.Gly333Arg
NM_007194.4:c.1198G>C MANE Select	NP_009125.1:p.Gly400Arg
XM_006724114.3:c.751G>C	XP_006724177.2:p.Gly251Arg
XM_011529839.2:c.1357G>C	XP_011528141.1:p.Gly453Arg
XM_011529840.3:c.1270G>C	XP_011528142.1:p.Gly424Arg
XM_011529842.2:c.1027G>C	XP_011528144.1:p.Gly343Arg
XM_011529845.2:c.535G>C	XP_011528147.1:p.Gly179Arg
XM_017028560.1:c.1321G>C	XP_016884049.1:p.Gly441Arg
XM_017028561.2:c.535G>C	XP_016884050.1:p.Gly179Arg
XM_024452148.1:c.1228G>C	XP_024307916.1:p.Gly410Arg
XM_024452149.1:c.1141G>C	XP_024307917.1:p.Gly381Arg
XR_937805.2:n.1368G>C
NM_001005735.2:c.1327G>C	NP_001005735.1:p.Gly443Arg
NM_001257387.2:c.535G>C	NP_001244316.1:p.Gly179Arg
NM_001349956.2:c.997G>C	NP_001336885.1:p.Gly333Arg