Canonical Allele Identifier: CA2499226067

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 1049247
• ClinVar RCV Id: RCV001355121
• dbSNP Id: rs2145815434

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696898_28697087del , CM000684.2:g.28696898_28697087del	GRCh38
NC_000022.10:g.29092886_29093075del , CM000684.1:g.29092886_29093075del	GRCh37
NC_000022.9:g.27422886_27423075del	NCBI36
NG_008150.1:g.49748_49937del
NG_008150.2:g.49780_49969del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1845_1009-1656del	ENSP00000518557.1:n.1009-1845_1009-1656del
ENST00000402731.6:c.808-100_894+3del
ENST00000404276.6:c.1009-100_1095+3del
ENST00000425190.7:c.346-100_432+3del
ENST00000464581.6:c.349-100_435+3del
ENST00000648295.1:n.561-100_647+3del
ENST00000649563.1:c.346-100_432+3del
ENST00000650281.1:c.1009-100_1095+3del
ENST00000328354.10:c.1009-100_1095+3del
ENST00000348295.7:c.1009-1214_1009-1025del	ENSP00000329012.5:n.1009-1214_1009-1025del
ENST00000382580.6:c.1138-100_1224+3del
ENST00000402731.5:c.1009-1214_1009-1025del	ENSP00000384835.1:n.1009-1214_1009-1025del
ENST00000403642.5:c.736-100_822+3del
ENST00000404276.5:c.1009-100_1095+3del
ENST00000405598.5:c.1009-100_1095+3del
ENST00000416671.5:c.*499-100_*585+3del
ENST00000417588.5:c.918-100_1004+3del
ENST00000433728.5:c.947-100_1033+3del
ENST00000434810.5:c.240-100_326+3del
ENST00000448511.5:c.899-100_985+3del
ENST00000456369.5:c.263+2751_263+2940del
NM_001005735.1:c.1138-100_1224+3del
NM_001257387.1:c.346-100_432+3del
NM_007194.3:c.1009-100_1095+3del
NM_145862.2:c.1009-1214_1009-1025del	NP_665861.1:n.1009-1214_1009-1025del
XM_006724114.2:c.529-100_615+3del
XM_006724116.2:c.466-100_552+3del
XM_011529839.1:c.1168-100_1254+3del
XM_011529840.1:c.1168-1214_1168-1025del	XP_011528142.1:n.1168-1214_1168-1025del
XM_011529841.1:c.937-100_1023+3del
XM_011529842.1:c.838-100_924+3del
XM_011529843.1:c.808-100_894+3del
XM_011529845.1:c.346-100_432+3del
XR_937805.1:n.1168-100_1254+3del
XR_937806.1:n.1163-1214_1163-1025del
NM_001349956.1:c.808-100_894+3del
NM_007194.4:c.1009-100_1095+3del
XM_006724114.3:c.562-100_648+3del
XM_011529839.2:c.1168-100_1254+3del
XM_011529840.3:c.1168-1214_1168-1025del	XP_011528142.1:n.1168-1214_1168-1025del
XM_011529842.2:c.838-100_924+3del
XM_011529845.2:c.346-100_432+3del
XM_017028560.1:c.1132-100_1218+3del
XM_017028561.2:c.346-100_432+3del
XM_024452148.1:c.1039-100_1125+3del
XM_024452149.1:c.1039-1214_1039-1025del	XP_024307917.1:n.1039-1214_1039-1025del
XR_937805.2:n.1179-100_1265+3del
XR_937806.2:n.1179-1214_1179-1025del
NM_001005735.2:c.1138-100_1224+3del
NM_001257387.2:c.346-100_432+3del
NM_001349956.2:c.808-100_894+3del