Canonical Allele Identifier: CA411092366
Gene: CHEK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28689161T>C , CM000684.2:g.28689161T>C GRCh38
NC_000022.10:g.29085149T>C , CM000684.1:g.29085149T>C GRCh37
NC_000022.9:g.27415149T>C NCBI36
NG_008150.1:g.57674A>G
NG_008150.2:g.57706A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000711048.1:c.*251A>G ENSP00000518557.1:n.*251A>G
ENST00000402731.6:c.1315A>G ENSP00000384835.2:p.Thr439Ala
ENST00000404276.6:c.1516A>G MANE Select ENSP00000385747.1:p.Thr506Ala
ENST00000425190.7:c.853A>G ENSP00000390244.2:p.Thr285Ala
ENST00000464581.6:c.856A>G ENSP00000483777.2:p.Thr286Ala
ENST00000648295.1:n.1068A>G
ENST00000649563.1:c.853A>G ENSP00000496928.1:p.Thr285Ala
ENST00000650281.1:c.1516A>G ENSP00000497000.1:p.Thr506Ala
ENST00000328354.10:c.1516A>G ENSP00000329178.6:p.Thr506Ala
ENST00000348295.7:c.1429A>G ENSP00000329012.5:p.Thr477Ala
ENST00000382580.6:c.1645A>G ENSP00000372023.2:p.Thr549Ala
ENST00000402731.5:c.1429A>G ENSP00000384835.1:p.Thr477Ala
ENST00000403642.5:c.1243A>G ENSP00000384919.1:p.Thr415Ala
ENST00000404276.5:c.1516A>G ENSP00000385747.1:p.Thr506Ala
ENST00000405598.5:c.1516A>G ENSP00000386087.1:p.Thr506Ala
ENST00000416671.5:c.*1006A>G ENSP00000402225.1:n.*1006A>G
ENST00000417588.5:c.1425A>G ENSP00000412901.1:n.1425A>G
ENST00000433728.5:c.1454A>G ENSP00000404400.1:n.1454A>G
ENST00000434810.5:c.714A>G
ENST00000448511.5:c.1406A>G ENSP00000404567.1:n.1406A>G
ENST00000456369.5:c.318A>G
ENST00000472807.1:n.250A>G
NM_001005735.1:c.1645A>G NP_001005735.1:p.Thr549Ala
NM_001257387.1:c.853A>G NP_001244316.1:p.Thr285Ala
NM_007194.3:c.1516A>G NP_009125.1:p.Thr506Ala
NM_145862.2:c.1429A>G NP_665861.1:p.Thr477Ala
XM_006724114.2:c.1036A>G XP_006724177.1:p.Thr346Ala
XM_006724116.2:c.973A>G XP_006724179.2:p.Thr325Ala
XM_011529839.1:c.1675A>G XP_011528141.1:p.Thr559Ala
XM_011529840.1:c.1588A>G XP_011528142.1:p.Thr530Ala
XM_011529841.1:c.1444A>G XP_011528143.1:p.Thr482Ala
XM_011529842.1:c.1345A>G XP_011528144.1:p.Thr449Ala
XM_011529843.1:c.1315A>G XP_011528145.1:p.Thr439Ala
XM_011529845.1:c.853A>G XP_011528147.1:p.Thr285Ala
XR_937805.1:n.1675A>G
NM_001349956.1:c.1315A>G NP_001336885.1:p.Thr439Ala
NM_007194.4:c.1516A>G MANE Select NP_009125.1:p.Thr506Ala
XM_006724114.3:c.1069A>G XP_006724177.2:p.Thr357Ala
XM_011529839.2:c.1675A>G XP_011528141.1:p.Thr559Ala
XM_011529840.3:c.1588A>G XP_011528142.1:p.Thr530Ala
XM_011529842.2:c.1345A>G XP_011528144.1:p.Thr449Ala
XM_011529845.2:c.853A>G XP_011528147.1:p.Thr285Ala
XM_017028560.1:c.1639A>G XP_016884049.1:p.Thr547Ala
XM_017028561.2:c.853A>G XP_016884050.1:p.Thr285Ala
XM_024452148.1:c.1546A>G XP_024307916.1:p.Thr516Ala
XM_024452149.1:c.1459A>G XP_024307917.1:p.Thr487Ala
XR_937805.2:n.1686A>G
NM_001005735.2:c.1645A>G NP_001005735.1:p.Thr549Ala
NM_001257387.2:c.853A>G NP_001244316.1:p.Thr285Ala
NM_001349956.2:c.1315A>G NP_001336885.1:p.Thr439Ala