Canonical Allele Identifier: CA411092397
Gene: CHEK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28689169T>C , CM000684.2:g.28689169T>C GRCh38
NC_000022.10:g.29085157T>C , CM000684.1:g.29085157T>C GRCh37
NC_000022.9:g.27415157T>C NCBI36
NG_008150.1:g.57666A>G
NG_008150.2:g.57698A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000711048.1:c.*243A>G ENSP00000518557.1:n.*243A>G
ENST00000402731.6:c.1307A>G ENSP00000384835.2:p.Asn436Ser
ENST00000404276.6:c.1508A>G MANE Select ENSP00000385747.1:p.Asn503Ser
ENST00000425190.7:c.845A>G ENSP00000390244.2:p.Asn282Ser
ENST00000464581.6:c.848A>G ENSP00000483777.2:p.Asn283Ser
ENST00000648295.1:n.1060A>G
ENST00000649563.1:c.845A>G ENSP00000496928.1:p.Asn282Ser
ENST00000650281.1:c.1508A>G ENSP00000497000.1:p.Asn503Ser
ENST00000328354.10:c.1508A>G ENSP00000329178.6:p.Asn503Ser
ENST00000348295.7:c.1421A>G ENSP00000329012.5:p.Asn474Ser
ENST00000382580.6:c.1637A>G ENSP00000372023.2:p.Asn546Ser
ENST00000402731.5:c.1421A>G ENSP00000384835.1:p.Asn474Ser
ENST00000403642.5:c.1235A>G ENSP00000384919.1:p.Asn412Ser
ENST00000404276.5:c.1508A>G ENSP00000385747.1:p.Asn503Ser
ENST00000405598.5:c.1508A>G ENSP00000386087.1:p.Asn503Ser
ENST00000416671.5:c.*998A>G ENSP00000402225.1:n.*998A>G
ENST00000417588.5:c.1417A>G ENSP00000412901.1:n.1417A>G
ENST00000433728.5:c.1446A>G ENSP00000404400.1:n.1446A>G
ENST00000434810.5:c.706A>G
ENST00000448511.5:c.1398A>G ENSP00000404567.1:n.1398A>G
ENST00000456369.5:c.310A>G
ENST00000472807.1:n.242A>G
NM_001005735.1:c.1637A>G NP_001005735.1:p.Asn546Ser
NM_001257387.1:c.845A>G NP_001244316.1:p.Asn282Ser
NM_007194.3:c.1508A>G NP_009125.1:p.Asn503Ser
NM_145862.2:c.1421A>G NP_665861.1:p.Asn474Ser
XM_006724114.2:c.1028A>G XP_006724177.1:p.Asn343Ser
XM_006724116.2:c.965A>G XP_006724179.2:p.Asn322Ser
XM_011529839.1:c.1667A>G XP_011528141.1:p.Asn556Ser
XM_011529840.1:c.1580A>G XP_011528142.1:p.Asn527Ser
XM_011529841.1:c.1436A>G XP_011528143.1:p.Asn479Ser
XM_011529842.1:c.1337A>G XP_011528144.1:p.Asn446Ser
XM_011529843.1:c.1307A>G XP_011528145.1:p.Asn436Ser
XM_011529845.1:c.845A>G XP_011528147.1:p.Asn282Ser
XR_937805.1:n.1667A>G
NM_001349956.1:c.1307A>G NP_001336885.1:p.Asn436Ser
NM_007194.4:c.1508A>G MANE Select NP_009125.1:p.Asn503Ser
XM_006724114.3:c.1061A>G XP_006724177.2:p.Asn354Ser
XM_011529839.2:c.1667A>G XP_011528141.1:p.Asn556Ser
XM_011529840.3:c.1580A>G XP_011528142.1:p.Asn527Ser
XM_011529842.2:c.1337A>G XP_011528144.1:p.Asn446Ser
XM_011529845.2:c.845A>G XP_011528147.1:p.Asn282Ser
XM_017028560.1:c.1631A>G XP_016884049.1:p.Asn544Ser
XM_017028561.2:c.845A>G XP_016884050.1:p.Asn282Ser
XM_024452148.1:c.1538A>G XP_024307916.1:p.Asn513Ser
XM_024452149.1:c.1451A>G XP_024307917.1:p.Asn484Ser
XR_937805.2:n.1678A>G
NM_001005735.2:c.1637A>G NP_001005735.1:p.Asn546Ser
NM_001257387.2:c.845A>G NP_001244316.1:p.Asn282Ser
NM_001349956.2:c.1307A>G NP_001336885.1:p.Asn436Ser