Canonical Allele Identifier: CA658656828

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 460789
• ClinVar RCV Id: RCV000543962 ; RCV000583942
• dbSNP Id: rs758677815
• MyVariant Identifiers: chr22:g.29091793_29091794dup (hg19) ; chr22:g.28695805_28695806dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695808_28695809dup , CM000684.2:g.28695808_28695809dup	GRCh38
NC_000022.10:g.29091796_29091797dup , CM000684.1:g.29091796_29091797dup	GRCh37
NC_000022.9:g.27421796_27421797dup	NCBI36
NG_008150.1:g.51029_51030dup
NG_008150.2:g.51061_51062dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-564_1009-563dup	ENSP00000518557.1:n.1009-564_1009-563dup
ENST00000402731.6:c.962_963dup	ENSP00000384835.2:p.Thr322ProfsTer26
ENST00000404276.6:c.1163_1164dup MANE Select	ENSP00000385747.1:p.Thr389ProfsTer26
ENST00000425190.7:c.500_501dup	ENSP00000390244.2:p.Thr168ProfsTer26
ENST00000464581.6:c.503_504dup	ENSP00000483777.2:p.Thr169ProfsTer26
ENST00000648295.1:n.715_716dup
ENST00000649563.1:c.500_501dup	ENSP00000496928.1:p.Thr168ProfsTer26
ENST00000650281.1:c.1163_1164dup	ENSP00000497000.1:p.Thr389ProfsTer26
ENST00000328354.10:c.1163_1164dup	ENSP00000329178.6:p.Thr389ProfsTer26
ENST00000348295.7:c.1076_1077dup	ENSP00000329012.5:p.Thr360ProfsTer26
ENST00000382580.6:c.1292_1293dup	ENSP00000372023.2:p.Thr432ProfsTer26
ENST00000402731.5:c.1076_1077dup	ENSP00000384835.1:p.Thr360ProfsTer26
ENST00000403642.5:c.890_891dup	ENSP00000384919.1:p.Thr298ProfsTer26
ENST00000404276.5:c.1163_1164dup	ENSP00000385747.1:p.Thr389ProfsTer26
ENST00000405598.5:c.1163_1164dup	ENSP00000386087.1:p.Thr389ProfsTer26
ENST00000416671.5:c.*653_*654dup	ENSP00000402225.1:n.*653_*654dup
ENST00000417588.5:c.1072_1073dup	ENSP00000412901.1:n.1072_1073dup
ENST00000433728.5:c.1101_1102dup	ENSP00000404400.1:n.1101_1102dup
ENST00000434810.5:c.394_395dup
ENST00000448511.5:c.1053_1054dup	ENSP00000404567.1:n.1053_1054dup
ENST00000456369.5:c.263+4032_263+4033dup
NM_001005735.1:c.1292_1293dup	NP_001005735.1:p.Thr432ProfsTer26
NM_001257387.1:c.500_501dup	NP_001244316.1:p.Thr168ProfsTer26
NM_007194.3:c.1163_1164dup	NP_009125.1:p.Thr389ProfsTer26
NM_145862.2:c.1076_1077dup	NP_665861.1:p.Thr360ProfsTer26
XM_006724114.2:c.683_684dup	XP_006724177.1:p.Thr229ProfsTer26
XM_006724116.2:c.620_621dup	XP_006724179.2:p.Thr208ProfsTer26
XM_011529839.1:c.1322_1323dup	XP_011528141.1:p.Thr442ProfsTer26
XM_011529840.1:c.1235_1236dup	XP_011528142.1:p.Thr413ProfsTer26
XM_011529841.1:c.1091_1092dup	XP_011528143.1:p.Thr365ProfsTer26
XM_011529842.1:c.992_993dup	XP_011528144.1:p.Thr332ProfsTer26
XM_011529843.1:c.962_963dup	XP_011528145.1:p.Thr322ProfsTer26
XM_011529845.1:c.500_501dup	XP_011528147.1:p.Thr168ProfsTer26
XR_937805.1:n.1322_1323dup
XR_937806.1:n.1230_1231dup
NM_001349956.1:c.962_963dup	NP_001336885.1:p.Thr322ProfsTer26
NM_007194.4:c.1163_1164dup MANE Select	NP_009125.1:p.Thr389ProfsTer26
XM_006724114.3:c.716_717dup	XP_006724177.2:p.Thr240ProfsTer26
XM_011529839.2:c.1322_1323dup	XP_011528141.1:p.Thr442ProfsTer26
XM_011529840.3:c.1235_1236dup	XP_011528142.1:p.Thr413ProfsTer26
XM_011529842.2:c.992_993dup	XP_011528144.1:p.Thr332ProfsTer26
XM_011529845.2:c.500_501dup	XP_011528147.1:p.Thr168ProfsTer26
XM_017028560.1:c.1286_1287dup	XP_016884049.1:p.Thr430ProfsTer26
XM_017028561.2:c.500_501dup	XP_016884050.1:p.Thr168ProfsTer26
XM_024452148.1:c.1193_1194dup	XP_024307916.1:p.Thr399ProfsTer26
XM_024452149.1:c.1106_1107dup	XP_024307917.1:p.Thr370ProfsTer26
XR_937805.2:n.1333_1334dup
XR_937806.2:n.1246_1247dup
NM_001005735.2:c.1292_1293dup	NP_001005735.1:p.Thr432ProfsTer26
NM_001257387.2:c.500_501dup	NP_001244316.1:p.Thr168ProfsTer26
NM_001349956.2:c.962_963dup	NP_001336885.1:p.Thr322ProfsTer26