Canonical Allele Identifier: CA2573157998

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 1445802
• ClinVar RCV Id: RCV001985253
• dbSNP Id: rs2145815556

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696903_28696904dup , CM000684.2:g.28696903_28696904dup	GRCh38
NC_000022.10:g.29092891_29092892dup , CM000684.1:g.29092891_29092892dup	GRCh37
NC_000022.9:g.27422891_27422892dup	NCBI36
NG_008150.1:g.49932_49933dup
NG_008150.2:g.49964_49965dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-1661_1009-1660dup	ENSP00000518557.1:n.1009-1661_1009-1660dup
ENST00000402731.6:c.892_893dup	ENSP00000384835.2:p.Ile299ArgfsTer17
ENST00000404276.6:c.1093_1094dup MANE Select	ENSP00000385747.1:p.Ile366ArgfsTer17
ENST00000425190.7:c.430_431dup	ENSP00000390244.2:p.Ile145ArgfsTer17
ENST00000464581.6:c.433_434dup	ENSP00000483777.2:p.Ile146ArgfsTer17
ENST00000648295.1:n.645_646dup
ENST00000649563.1:c.430_431dup	ENSP00000496928.1:p.Ile145ArgfsTer17
ENST00000650281.1:c.1093_1094dup	ENSP00000497000.1:p.Ile366ArgfsTer17
ENST00000328354.10:c.1093_1094dup	ENSP00000329178.6:p.Ile366ArgfsTer17
ENST00000348295.7:c.1009-1030_1009-1029dup	ENSP00000329012.5:n.1009-1030_1009-1029dup
ENST00000382580.6:c.1222_1223dup	ENSP00000372023.2:p.Ile409ArgfsTer17
ENST00000402731.5:c.1009-1030_1009-1029dup	ENSP00000384835.1:n.1009-1030_1009-1029dup
ENST00000403642.5:c.820_821dup	ENSP00000384919.1:p.Ile275ArgfsTer17
ENST00000404276.5:c.1093_1094dup	ENSP00000385747.1:p.Ile366ArgfsTer17
ENST00000405598.5:c.1093_1094dup	ENSP00000386087.1:p.Ile366ArgfsTer17
ENST00000416671.5:c.*583_*584dup	ENSP00000402225.1:n.*583_*584dup
ENST00000417588.5:c.1002_1003dup	ENSP00000412901.1:n.1002_1003dup
ENST00000433728.5:c.1031_1032dup	ENSP00000404400.1:n.1031_1032dup
ENST00000434810.5:c.324_325dup
ENST00000447421.5:c.892_893dup	ENSP00000397478.2:p.Lys298=
ENST00000448511.5:c.983_984dup	ENSP00000404567.1:n.983_984dup
ENST00000456369.5:c.263+2935_263+2936dup
NM_001005735.1:c.1222_1223dup	NP_001005735.1:p.Ile409ArgfsTer17
NM_001257387.1:c.430_431dup	NP_001244316.1:p.Ile145ArgfsTer17
NM_007194.3:c.1093_1094dup	NP_009125.1:p.Ile366ArgfsTer17
NM_145862.2:c.1009-1030_1009-1029dup	NP_665861.1:n.1009-1030_1009-1029dup
XM_006724114.2:c.613_614dup	XP_006724177.1:p.Ile206ArgfsTer17
XM_006724116.2:c.550_551dup	XP_006724179.2:p.Ile185ArgfsTer17
XM_011529839.1:c.1252_1253dup	XP_011528141.1:p.Ile419ArgfsTer17
XM_011529840.1:c.1168-1030_1168-1029dup	XP_011528142.1:n.1168-1030_1168-1029dup
XM_011529841.1:c.1021_1022dup	XP_011528143.1:p.Ile342ArgfsTer17
XM_011529842.1:c.922_923dup	XP_011528144.1:p.Ile309ArgfsTer17
XM_011529843.1:c.892_893dup	XP_011528145.1:p.Ile299ArgfsTer17
XM_011529845.1:c.430_431dup	XP_011528147.1:p.Ile145ArgfsTer17
XR_937805.1:n.1252_1253dup
XR_937806.1:n.1163-1030_1163-1029dup
NM_001349956.1:c.892_893dup	NP_001336885.1:p.Ile299ArgfsTer17
NM_007194.4:c.1093_1094dup MANE Select	NP_009125.1:p.Ile366ArgfsTer17
XM_006724114.3:c.646_647dup	XP_006724177.2:p.Ile217ArgfsTer17
XM_011529839.2:c.1252_1253dup	XP_011528141.1:p.Ile419ArgfsTer17
XM_011529840.3:c.1168-1030_1168-1029dup	XP_011528142.1:n.1168-1030_1168-1029dup
XM_011529842.2:c.922_923dup	XP_011528144.1:p.Ile309ArgfsTer17
XM_011529845.2:c.430_431dup	XP_011528147.1:p.Ile145ArgfsTer17
XM_017028560.1:c.1216_1217dup	XP_016884049.1:p.Ile407ArgfsTer17
XM_017028561.2:c.430_431dup	XP_016884050.1:p.Ile145ArgfsTer17
XM_024452148.1:c.1123_1124dup	XP_024307916.1:p.Ile376ArgfsTer17
XM_024452149.1:c.1039-1030_1039-1029dup	XP_024307917.1:n.1039-1030_1039-1029dup
XR_937805.2:n.1263_1264dup
XR_937806.2:n.1179-1030_1179-1029dup
NM_001005735.2:c.1222_1223dup	NP_001005735.1:p.Ile409ArgfsTer17
NM_001257387.2:c.430_431dup	NP_001244316.1:p.Ile145ArgfsTer17
NM_001349956.2:c.892_893dup	NP_001336885.1:p.Ile299ArgfsTer17