Canonical Allele Identifier: CA2573157953

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 1451414
• ClinVar RCV Id: RCV002007208
• dbSNP Id: rs1555913672

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695746_28695770dup , CM000684.2:g.28695746_28695770dup	GRCh38
NC_000022.10:g.29091734_29091758dup , CM000684.1:g.29091734_29091758dup	GRCh37
NC_000022.9:g.27421734_27421758dup	NCBI36
NG_008150.1:g.51075_51099dup
NG_008150.2:g.51107_51131dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-518_1009-494dup	ENSP00000518557.1:n.1009-518_1009-494dup
ENST00000402731.6:c.1008_1032dup	ENSP00000384835.2:p.Ser345ValfsTer2
ENST00000404276.6:c.1209_1233dup MANE Select	ENSP00000385747.1:p.Ser412ValfsTer2
ENST00000425190.7:c.546_570dup	ENSP00000390244.2:p.Ser191ValfsTer2
ENST00000464581.6:c.549_573dup	ENSP00000483777.2:p.Ser192ValfsTer2
ENST00000648295.1:n.761_785dup
ENST00000649563.1:c.546_570dup	ENSP00000496928.1:p.Ser191ValfsTer2
ENST00000650281.1:c.1209_1233dup	ENSP00000497000.1:p.Ser412ValfsTer2
ENST00000328354.10:c.1209_1233dup	ENSP00000329178.6:p.Ser412ValfsTer2
ENST00000348295.7:c.1122_1146dup	ENSP00000329012.5:p.Ser383ValfsTer2
ENST00000382580.6:c.1338_1362dup	ENSP00000372023.2:p.Ser455ValfsTer2
ENST00000402731.5:c.1122_1146dup	ENSP00000384835.1:p.Ser383ValfsTer2
ENST00000403642.5:c.936_960dup	ENSP00000384919.1:p.Ser321ValfsTer2
ENST00000404276.5:c.1209_1233dup	ENSP00000385747.1:p.Ser412ValfsTer2
ENST00000405598.5:c.1209_1233dup	ENSP00000386087.1:p.Ser412ValfsTer2
ENST00000416671.5:c.*699_*723dup	ENSP00000402225.1:n.*699_*723dup
ENST00000417588.5:c.1118_1142dup	ENSP00000412901.1:n.1118_1142dup
ENST00000433728.5:c.1147_1171dup	ENSP00000404400.1:n.1147_1171dup
ENST00000434810.5:c.440_464dup
ENST00000448511.5:c.1099_1123dup	ENSP00000404567.1:n.1099_1123dup
ENST00000456369.5:c.263+4078_263+4102dup
NM_001005735.1:c.1338_1362dup	NP_001005735.1:p.Ser455ValfsTer2
NM_001257387.1:c.546_570dup	NP_001244316.1:p.Ser191ValfsTer2
NM_007194.3:c.1209_1233dup	NP_009125.1:p.Ser412ValfsTer2
NM_145862.2:c.1122_1146dup	NP_665861.1:p.Ser383ValfsTer2
XM_006724114.2:c.729_753dup	XP_006724177.1:p.Ser252ValfsTer2
XM_006724116.2:c.666_690dup	XP_006724179.2:p.Ser231ValfsTer2
XM_011529839.1:c.1368_1392dup	XP_011528141.1:p.Ser465ValfsTer2
XM_011529840.1:c.1281_1305dup	XP_011528142.1:p.Ser436ValfsTer2
XM_011529841.1:c.1137_1161dup	XP_011528143.1:p.Ser388ValfsTer2
XM_011529842.1:c.1038_1062dup	XP_011528144.1:p.Ser355ValfsTer2
XM_011529843.1:c.1008_1032dup	XP_011528145.1:p.Ser345ValfsTer2
XM_011529845.1:c.546_570dup	XP_011528147.1:p.Ser191ValfsTer2
XR_937805.1:n.1368_1392dup
NM_001349956.1:c.1008_1032dup	NP_001336885.1:p.Ser345ValfsTer2
NM_007194.4:c.1209_1233dup MANE Select	NP_009125.1:p.Ser412ValfsTer2
XM_006724114.3:c.762_786dup	XP_006724177.2:p.Ser263ValfsTer2
XM_011529839.2:c.1368_1392dup	XP_011528141.1:p.Ser465ValfsTer2
XM_011529840.3:c.1281_1305dup	XP_011528142.1:p.Ser436ValfsTer2
XM_011529842.2:c.1038_1062dup	XP_011528144.1:p.Ser355ValfsTer2
XM_011529845.2:c.546_570dup	XP_011528147.1:p.Ser191ValfsTer2
XM_017028560.1:c.1332_1356dup	XP_016884049.1:p.Ser453ValfsTer2
XM_017028561.2:c.546_570dup	XP_016884050.1:p.Ser191ValfsTer2
XM_024452148.1:c.1239_1263dup	XP_024307916.1:p.Ser422ValfsTer2
XM_024452149.1:c.1152_1176dup	XP_024307917.1:p.Ser393ValfsTer2
XR_937805.2:n.1379_1403dup
NM_001005735.2:c.1338_1362dup	NP_001005735.1:p.Ser455ValfsTer2
NM_001257387.2:c.546_570dup	NP_001244316.1:p.Ser191ValfsTer2
NM_001349956.2:c.1008_1032dup	NP_001336885.1:p.Ser345ValfsTer2