Canonical Allele Identifier: CA411096849
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 844906
ClinVar RCV Id: RCV001047870
dbSNP Id: rs1601722891

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28695806G>C , CM000684.2:g.28695806G>C GRCh38
NC_000022.10:g.29091794G>C , CM000684.1:g.29091794G>C GRCh37
NC_000022.9:g.27421794G>C NCBI36
NG_008150.1:g.51029C>G
NG_008150.2:g.51061C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000711048.1:c.1009-564C>G ENSP00000518557.1:n.1009-564C>G
ENST00000402731.6:c.962C>G ENSP00000384835.2:p.Pro321Arg
ENST00000404276.6:c.1163C>G MANE Select ENSP00000385747.1:p.Pro388Arg
ENST00000425190.7:c.500C>G ENSP00000390244.2:p.Pro167Arg
ENST00000464581.6:c.503C>G ENSP00000483777.2:p.Pro168Arg
ENST00000648295.1:n.715C>G
ENST00000649563.1:c.500C>G ENSP00000496928.1:p.Pro167Arg
ENST00000650281.1:c.1163C>G ENSP00000497000.1:p.Pro388Arg
ENST00000328354.10:c.1163C>G ENSP00000329178.6:p.Pro388Arg
ENST00000348295.7:c.1076C>G ENSP00000329012.5:p.Pro359Arg
ENST00000382580.6:c.1292C>G ENSP00000372023.2:p.Pro431Arg
ENST00000402731.5:c.1076C>G ENSP00000384835.1:p.Pro359Arg
ENST00000403642.5:c.890C>G ENSP00000384919.1:p.Pro297Arg
ENST00000404276.5:c.1163C>G ENSP00000385747.1:p.Pro388Arg
ENST00000405598.5:c.1163C>G ENSP00000386087.1:p.Pro388Arg
ENST00000416671.5:c.*653C>G ENSP00000402225.1:n.*653C>G
ENST00000417588.5:c.1072C>G ENSP00000412901.1:n.1072C>G
ENST00000433728.5:c.1101C>G ENSP00000404400.1:n.1101C>G
ENST00000434810.5:c.394C>G
ENST00000448511.5:c.1053C>G ENSP00000404567.1:n.1053C>G
ENST00000456369.5:c.263+4032C>G
NM_001005735.1:c.1292C>G NP_001005735.1:p.Pro431Arg
NM_001257387.1:c.500C>G NP_001244316.1:p.Pro167Arg
NM_007194.3:c.1163C>G NP_009125.1:p.Pro388Arg
NM_145862.2:c.1076C>G NP_665861.1:p.Pro359Arg
XM_006724114.2:c.683C>G XP_006724177.1:p.Pro228Arg
XM_006724116.2:c.620C>G XP_006724179.2:p.Pro207Arg
XM_011529839.1:c.1322C>G XP_011528141.1:p.Pro441Arg
XM_011529840.1:c.1235C>G XP_011528142.1:p.Pro412Arg
XM_011529841.1:c.1091C>G XP_011528143.1:p.Pro364Arg
XM_011529842.1:c.992C>G XP_011528144.1:p.Pro331Arg
XM_011529843.1:c.962C>G XP_011528145.1:p.Pro321Arg
XM_011529845.1:c.500C>G XP_011528147.1:p.Pro167Arg
XR_937805.1:n.1322C>G
XR_937806.1:n.1230C>G
NM_001349956.1:c.962C>G NP_001336885.1:p.Pro321Arg
NM_007194.4:c.1163C>G MANE Select NP_009125.1:p.Pro388Arg
XM_006724114.3:c.716C>G XP_006724177.2:p.Pro239Arg
XM_011529839.2:c.1322C>G XP_011528141.1:p.Pro441Arg
XM_011529840.3:c.1235C>G XP_011528142.1:p.Pro412Arg
XM_011529842.2:c.992C>G XP_011528144.1:p.Pro331Arg
XM_011529845.2:c.500C>G XP_011528147.1:p.Pro167Arg
XM_017028560.1:c.1286C>G XP_016884049.1:p.Pro429Arg
XM_017028561.2:c.500C>G XP_016884050.1:p.Pro167Arg
XM_024452148.1:c.1193C>G XP_024307916.1:p.Pro398Arg
XM_024452149.1:c.1106C>G XP_024307917.1:p.Pro369Arg
XR_937805.2:n.1333C>G
XR_937806.2:n.1246C>G
NM_001005735.2:c.1292C>G NP_001005735.1:p.Pro431Arg
NM_001257387.2:c.500C>G NP_001244316.1:p.Pro167Arg
NM_001349956.2:c.962C>G NP_001336885.1:p.Pro321Arg