Canonical Allele Identifier: CA513944699

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28689144A>C , CM000684.2:g.28689144A>C	GRCh38
NC_000022.10:g.29085132A>C , CM000684.1:g.29085132A>C	GRCh37
NC_000022.9:g.27415132A>C	NCBI36
NG_008150.1:g.57691T>G
NG_008150.2:g.57723T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_007194.4:c.1533T>G MANE Select	NP_009125.1:p.Val511=
ENST00000404276.6:c.1533T>G MANE Select	ENSP00000385747.1:p.Val511=
NM_001005735.1:c.1662T>G	NP_001005735.1:p.Val554=
NM_001005735.2:c.1662T>G	NP_001005735.1:p.Val554=
NM_001257387.1:c.870T>G	NP_001244316.1:p.Val290=
NM_001257387.2:c.870T>G	NP_001244316.1:p.Val290=
NM_001349956.1:c.1332T>G	NP_001336885.1:p.Val444=
NM_001349956.2:c.1332T>G	NP_001336885.1:p.Val444=
NM_007194.3:c.1533T>G	NP_009125.1:p.Val511=
NM_145862.2:c.1446T>G	NP_665861.1:p.Val482=
ENST00000328354.10:c.1533T>G	ENSP00000329178.6:p.Val511=
ENST00000348295.7:c.1446T>G	ENSP00000329012.5:p.Val482=
ENST00000382580.6:c.1662T>G	ENSP00000372023.2:p.Val554=
ENST00000402731.5:c.1446T>G	ENSP00000384835.1:p.Val482=
ENST00000402731.6:c.1332T>G	ENSP00000384835.2:p.Val444=
ENST00000403642.5:c.1260T>G	ENSP00000384919.1:p.Val420=
ENST00000404276.5:c.1533T>G	ENSP00000385747.1:p.Val511=
ENST00000405598.5:c.1533T>G	ENSP00000386087.1:p.Val511=
ENST00000416671.5:c.*1023T>G	ENSP00000402225.1:n.*1023T>G
ENST00000417588.5:c.1442T>G	ENSP00000412901.1:n.1442T>G
ENST00000425190.7:c.870T>G	ENSP00000390244.2:p.Val290=
ENST00000433728.5:c.1471T>G	ENSP00000404400.1:n.1471T>G
ENST00000434810.5:c.731T>G
ENST00000448511.5:c.1423T>G	ENSP00000404567.1:n.1423T>G
ENST00000456369.5:c.335T>G
ENST00000464581.6:c.873T>G	ENSP00000483777.2:p.Val291=
ENST00000472807.1:n.267T>G
ENST00000648295.1:n.1085T>G
ENST00000649563.1:c.870T>G	ENSP00000496928.1:p.Val290=
ENST00000650281.1:c.1533T>G	ENSP00000497000.1:p.Val511=
ENST00000711048.1:c.*268T>G	ENSP00000518557.1:n.*268T>G
XM_006724114.2:c.1053T>G	XP_006724177.1:p.Val351=
XM_006724114.3:c.1086T>G	XP_006724177.2:p.Val362=
XM_006724116.2:c.990T>G	XP_006724179.2:p.Val330=
XM_011529839.1:c.1692T>G	XP_011528141.1:p.Val564=
XM_011529839.2:c.1692T>G	XP_011528141.1:p.Val564=
XM_011529840.1:c.1605T>G	XP_011528142.1:p.Val535=
XM_011529840.3:c.1605T>G	XP_011528142.1:p.Val535=
XM_011529841.1:c.1461T>G	XP_011528143.1:p.Val487=
XM_011529842.1:c.1362T>G	XP_011528144.1:p.Val454=
XM_011529842.2:c.1362T>G	XP_011528144.1:p.Val454=
XM_011529843.1:c.1332T>G	XP_011528145.1:p.Val444=
XM_011529845.1:c.870T>G	XP_011528147.1:p.Val290=
XM_011529845.2:c.870T>G	XP_011528147.1:p.Val290=
XM_017028560.1:c.1656T>G	XP_016884049.1:p.Val552=
XM_017028561.2:c.870T>G	XP_016884050.1:p.Val290=
XM_024452148.1:c.1563T>G	XP_024307916.1:p.Val521=
XM_024452149.1:c.1476T>G	XP_024307917.1:p.Val492=
XR_937805.1:n.1692T>G
XR_937805.2:n.1703T>G