Canonical Allele Identifier: CA411096869

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 460787
• ClinVar RCV Id: RCV000543181 ; RCV000564558
• dbSNP Id: rs1555913820
• MyVariant Identifiers: chr22:g.29091800C>T (hg19) ; chr22:g.28695812C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695812C>T , CM000684.2:g.28695812C>T	GRCh38
NC_000022.10:g.29091800C>T , CM000684.1:g.29091800C>T	GRCh37
NC_000022.9:g.27421800C>T	NCBI36
NG_008150.1:g.51023G>A
NG_008150.2:g.51055G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-570G>A	ENSP00000518557.1:n.1009-570G>A
ENST00000402731.6:c.956G>A	ENSP00000384835.2:p.Gly319Glu
ENST00000404276.6:c.1157G>A MANE Select	ENSP00000385747.1:p.Gly386Glu
ENST00000425190.7:c.494G>A	ENSP00000390244.2:p.Gly165Glu
ENST00000464581.6:c.497G>A	ENSP00000483777.2:p.Gly166Glu
ENST00000648295.1:n.709G>A
ENST00000649563.1:c.494G>A	ENSP00000496928.1:p.Gly165Glu
ENST00000650281.1:c.1157G>A	ENSP00000497000.1:p.Gly386Glu
ENST00000328354.10:c.1157G>A	ENSP00000329178.6:p.Gly386Glu
ENST00000348295.7:c.1070G>A	ENSP00000329012.5:p.Gly357Glu
ENST00000382580.6:c.1286G>A	ENSP00000372023.2:p.Gly429Glu
ENST00000402731.5:c.1070G>A	ENSP00000384835.1:p.Gly357Glu
ENST00000403642.5:c.884G>A	ENSP00000384919.1:p.Gly295Glu
ENST00000404276.5:c.1157G>A	ENSP00000385747.1:p.Gly386Glu
ENST00000405598.5:c.1157G>A	ENSP00000386087.1:p.Gly386Glu
ENST00000416671.5:c.*647G>A	ENSP00000402225.1:n.*647G>A
ENST00000417588.5:c.1066G>A	ENSP00000412901.1:n.1066G>A
ENST00000433728.5:c.1095G>A	ENSP00000404400.1:n.1095G>A
ENST00000434810.5:c.388G>A
ENST00000448511.5:c.1047G>A	ENSP00000404567.1:n.1047G>A
ENST00000456369.5:c.263+4026G>A
NM_001005735.1:c.1286G>A	NP_001005735.1:p.Gly429Glu
NM_001257387.1:c.494G>A	NP_001244316.1:p.Gly165Glu
NM_007194.3:c.1157G>A	NP_009125.1:p.Gly386Glu
NM_145862.2:c.1070G>A	NP_665861.1:p.Gly357Glu
XM_006724114.2:c.677G>A	XP_006724177.1:p.Gly226Glu
XM_006724116.2:c.614G>A	XP_006724179.2:p.Gly205Glu
XM_011529839.1:c.1316G>A	XP_011528141.1:p.Gly439Glu
XM_011529840.1:c.1229G>A	XP_011528142.1:p.Gly410Glu
XM_011529841.1:c.1085G>A	XP_011528143.1:p.Gly362Glu
XM_011529842.1:c.986G>A	XP_011528144.1:p.Gly329Glu
XM_011529843.1:c.956G>A	XP_011528145.1:p.Gly319Glu
XM_011529845.1:c.494G>A	XP_011528147.1:p.Gly165Glu
XR_937805.1:n.1316G>A
XR_937806.1:n.1224G>A
NM_001349956.1:c.956G>A	NP_001336885.1:p.Gly319Glu
NM_007194.4:c.1157G>A MANE Select	NP_009125.1:p.Gly386Glu
XM_006724114.3:c.710G>A	XP_006724177.2:p.Gly237Glu
XM_011529839.2:c.1316G>A	XP_011528141.1:p.Gly439Glu
XM_011529840.3:c.1229G>A	XP_011528142.1:p.Gly410Glu
XM_011529842.2:c.986G>A	XP_011528144.1:p.Gly329Glu
XM_011529845.2:c.494G>A	XP_011528147.1:p.Gly165Glu
XM_017028560.1:c.1280G>A	XP_016884049.1:p.Gly427Glu
XM_017028561.2:c.494G>A	XP_016884050.1:p.Gly165Glu
XM_024452148.1:c.1187G>A	XP_024307916.1:p.Gly396Glu
XM_024452149.1:c.1100G>A	XP_024307917.1:p.Gly367Glu
XR_937805.2:n.1327G>A
XR_937806.2:n.1240G>A
NM_001005735.2:c.1286G>A	NP_001005735.1:p.Gly429Glu
NM_001257387.2:c.494G>A	NP_001244316.1:p.Gly165Glu
NM_001349956.2:c.956G>A	NP_001336885.1:p.Gly319Glu