Canonical Allele Identifier: CA2737966714

Gene: CHEK2

Linked Data

• dbSNP Id: rs2145804959

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695813del , CM000684.2:g.28695813del	GRCh38
NC_000022.10:g.29091801del , CM000684.1:g.29091801del	GRCh37
NC_000022.9:g.27421801del	NCBI36
NG_008150.1:g.51023del
NG_008150.2:g.51055del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-570del	ENSP00000518557.1:n.1009-570del
ENST00000402731.6:c.956del	ENSP00000384835.2:p.Gly319GlufsTer28
ENST00000404276.6:c.1157del MANE Select	ENSP00000385747.1:p.Gly386GlufsTer28
ENST00000425190.7:c.494del	ENSP00000390244.2:p.Gly165GlufsTer28
ENST00000464581.6:c.497del	ENSP00000483777.2:p.Gly166GlufsTer28
ENST00000648295.1:n.709del
ENST00000649563.1:c.494del	ENSP00000496928.1:p.Gly165GlufsTer28
ENST00000650281.1:c.1157del	ENSP00000497000.1:p.Gly386GlufsTer28
ENST00000328354.10:c.1157del	ENSP00000329178.6:p.Gly386GlufsTer28
ENST00000348295.7:c.1070del	ENSP00000329012.5:p.Gly357GlufsTer28
ENST00000382580.6:c.1286del	ENSP00000372023.2:p.Gly429GlufsTer28
ENST00000402731.5:c.1070del	ENSP00000384835.1:p.Gly357GlufsTer28
ENST00000403642.5:c.884del	ENSP00000384919.1:p.Gly295GlufsTer28
ENST00000404276.5:c.1157del	ENSP00000385747.1:p.Gly386GlufsTer28
ENST00000405598.5:c.1157del	ENSP00000386087.1:p.Gly386GlufsTer28
ENST00000416671.5:c.*647del	ENSP00000402225.1:n.*647del
ENST00000417588.5:c.1066del	ENSP00000412901.1:n.1066del
ENST00000433728.5:c.1095del	ENSP00000404400.1:n.1095del
ENST00000434810.5:c.388del
ENST00000448511.5:c.1047del	ENSP00000404567.1:n.1047del
ENST00000456369.5:c.263+4026del
NM_001005735.1:c.1286del	NP_001005735.1:p.Gly429GlufsTer28
NM_001257387.1:c.494del	NP_001244316.1:p.Gly165GlufsTer28
NM_007194.3:c.1157del	NP_009125.1:p.Gly386GlufsTer28
NM_145862.2:c.1070del	NP_665861.1:p.Gly357GlufsTer28
XM_006724114.2:c.677del	XP_006724177.1:p.Gly226GlufsTer28
XM_006724116.2:c.614del	XP_006724179.2:p.Gly205GlufsTer28
XM_011529839.1:c.1316del	XP_011528141.1:p.Gly439GlufsTer28
XM_011529840.1:c.1229del	XP_011528142.1:p.Gly410GlufsTer28
XM_011529841.1:c.1085del	XP_011528143.1:p.Gly362GlufsTer28
XM_011529842.1:c.986del	XP_011528144.1:p.Gly329GlufsTer28
XM_011529843.1:c.956del	XP_011528145.1:p.Gly319GlufsTer28
XM_011529845.1:c.494del	XP_011528147.1:p.Gly165GlufsTer28
XR_937805.1:n.1316del
XR_937806.1:n.1224del
NM_001349956.1:c.956del	NP_001336885.1:p.Gly319GlufsTer28
NM_007194.4:c.1157del MANE Select	NP_009125.1:p.Gly386GlufsTer28
XM_006724114.3:c.710del	XP_006724177.2:p.Gly237GlufsTer28
XM_011529839.2:c.1316del	XP_011528141.1:p.Gly439GlufsTer28
XM_011529840.3:c.1229del	XP_011528142.1:p.Gly410GlufsTer28
XM_011529842.2:c.986del	XP_011528144.1:p.Gly329GlufsTer28
XM_011529845.2:c.494del	XP_011528147.1:p.Gly165GlufsTer28
XM_017028560.1:c.1280del	XP_016884049.1:p.Gly427GlufsTer28
XM_017028561.2:c.494del	XP_016884050.1:p.Gly165GlufsTer28
XM_024452148.1:c.1187del	XP_024307916.1:p.Gly396GlufsTer28
XM_024452149.1:c.1100del	XP_024307917.1:p.Gly367GlufsTer28
XR_937805.2:n.1327del
XR_937806.2:n.1240del
NM_001005735.2:c.1286del	NP_001005735.1:p.Gly429GlufsTer28
NM_001257387.2:c.494del	NP_001244316.1:p.Gly165GlufsTer28
NM_001349956.2:c.956del	NP_001336885.1:p.Gly319GlufsTer28