Canonical Allele Identifier: CA411094311
Gene: CHEK2 HGNC NCBI

Linked Data

dbSNP Id: rs1555913131

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28694077C>A , CM000684.2:g.28694077C>A GRCh38
NC_000022.10:g.29090065C>A , CM000684.1:g.29090065C>A GRCh37
NC_000022.9:g.27420065C>A NCBI36
NG_008150.1:g.52758G>T
NG_008150.2:g.52790G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000711048.1:c.*151G>T ENSP00000518557.1:n.*151G>T
ENST00000402731.6:c.1215G>T ENSP00000384835.2:p.Lys405Asn
ENST00000404276.6:c.1416G>T MANE Select ENSP00000385747.1:p.Lys472Asn
ENST00000425190.7:c.753G>T ENSP00000390244.2:p.Lys251Asn
ENST00000464581.6:c.756G>T ENSP00000483777.2:p.Lys252Asn
ENST00000648295.1:n.968G>T
ENST00000649563.1:c.753G>T ENSP00000496928.1:p.Lys251Asn
ENST00000650281.1:c.1416G>T ENSP00000497000.1:p.Lys472Asn
ENST00000328354.10:c.1416G>T ENSP00000329178.6:p.Lys472Asn
ENST00000348295.7:c.1329G>T ENSP00000329012.5:p.Lys443Asn
ENST00000382580.6:c.1545G>T ENSP00000372023.2:p.Lys515Asn
ENST00000402731.5:c.1329G>T ENSP00000384835.1:p.Lys443Asn
ENST00000403642.5:c.1143G>T ENSP00000384919.1:p.Lys381Asn
ENST00000404276.5:c.1416G>T ENSP00000385747.1:p.Lys472Asn
ENST00000405598.5:c.1416G>T ENSP00000386087.1:p.Lys472Asn
ENST00000416671.5:c.*906G>T ENSP00000402225.1:n.*906G>T
ENST00000417588.5:c.1325G>T ENSP00000412901.1:n.1325G>T
ENST00000433728.5:c.1354G>T ENSP00000404400.1:n.1354G>T
ENST00000434810.5:c.614G>T
ENST00000448511.5:c.1306G>T ENSP00000404567.1:n.1306G>T
ENST00000456369.5:c.264-4862G>T
NM_001005735.1:c.1545G>T NP_001005735.1:p.Lys515Asn
NM_001257387.1:c.753G>T NP_001244316.1:p.Lys251Asn
NM_007194.3:c.1416G>T NP_009125.1:p.Lys472Asn
NM_145862.2:c.1329G>T NP_665861.1:p.Lys443Asn
XM_006724114.2:c.936G>T XP_006724177.1:p.Lys312Asn
XM_006724116.2:c.873G>T XP_006724179.2:p.Lys291Asn
XM_011529839.1:c.1575G>T XP_011528141.1:p.Lys525Asn
XM_011529840.1:c.1488G>T XP_011528142.1:p.Lys496Asn
XM_011529841.1:c.1344G>T XP_011528143.1:p.Lys448Asn
XM_011529842.1:c.1245G>T XP_011528144.1:p.Lys415Asn
XM_011529843.1:c.1215G>T XP_011528145.1:p.Lys405Asn
XM_011529845.1:c.753G>T XP_011528147.1:p.Lys251Asn
XR_937805.1:n.1575G>T
NM_001349956.1:c.1215G>T NP_001336885.1:p.Lys405Asn
NM_007194.4:c.1416G>T MANE Select NP_009125.1:p.Lys472Asn
XM_006724114.3:c.969G>T XP_006724177.2:p.Lys323Asn
XM_011529839.2:c.1575G>T XP_011528141.1:p.Lys525Asn
XM_011529840.3:c.1488G>T XP_011528142.1:p.Lys496Asn
XM_011529842.2:c.1245G>T XP_011528144.1:p.Lys415Asn
XM_011529845.2:c.753G>T XP_011528147.1:p.Lys251Asn
XM_017028560.1:c.1539G>T XP_016884049.1:p.Lys513Asn
XM_017028561.2:c.753G>T XP_016884050.1:p.Lys251Asn
XM_024452148.1:c.1446G>T XP_024307916.1:p.Lys482Asn
XM_024452149.1:c.1359G>T XP_024307917.1:p.Lys453Asn
XR_937805.2:n.1586G>T
NM_001005735.2:c.1545G>T NP_001005735.1:p.Lys515Asn
NM_001257387.2:c.753G>T NP_001244316.1:p.Lys251Asn
NM_001349956.2:c.1215G>T NP_001336885.1:p.Lys405Asn