Canonical Allele Identifier: CA411095401

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695135G>T , CM000684.2:g.28695135G>T	GRCh38
NC_000022.10:g.29091123G>T , CM000684.1:g.29091123G>T	GRCh37
NC_000022.9:g.27421123G>T	NCBI36
NG_008150.1:g.51700C>A
NG_008150.2:g.51732C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007194.4:c.1367C>A MANE Select	NP_009125.1:p.Ser456Ter
ENST00000404276.6:c.1367C>A MANE Select	ENSP00000385747.1:p.Ser456Ter
NM_001005735.1:c.1496C>A	NP_001005735.1:p.Ser499Ter
NM_001005735.2:c.1496C>A	NP_001005735.1:p.Ser499Ter
NM_001257387.1:c.704C>A	NP_001244316.1:p.Ser235Ter
NM_001257387.2:c.704C>A	NP_001244316.1:p.Ser235Ter
NM_001349956.1:c.1166C>A	NP_001336885.1:p.Ser389Ter
NM_001349956.2:c.1166C>A	NP_001336885.1:p.Ser389Ter
NM_007194.3:c.1367C>A	NP_009125.1:p.Ser456Ter
NM_145862.2:c.1280C>A	NP_665861.1:p.Ser427Ter
ENST00000328354.10:c.1367C>A	ENSP00000329178.6:p.Ser456Ter
ENST00000348295.7:c.1280C>A	ENSP00000329012.5:p.Ser427Ter
ENST00000382580.6:c.1496C>A	ENSP00000372023.2:p.Ser499Ter
ENST00000402731.5:c.1280C>A	ENSP00000384835.1:p.Ser427Ter
ENST00000402731.6:c.1166C>A	ENSP00000384835.2:p.Ser389Ter
ENST00000403642.5:c.1094C>A	ENSP00000384919.1:p.Ser365Ter
ENST00000404276.5:c.1367C>A	ENSP00000385747.1:p.Ser456Ter
ENST00000405598.5:c.1367C>A	ENSP00000386087.1:p.Ser456Ter
ENST00000416671.5:c.*857C>A	ENSP00000402225.1:n.*857C>A
ENST00000417588.5:c.1276C>A	ENSP00000412901.1:n.1276C>A
ENST00000425190.7:c.704C>A	ENSP00000390244.2:p.Ser235Ter
ENST00000433728.5:c.1305C>A	ENSP00000404400.1:n.1305C>A
ENST00000434810.5:c.565C>A
ENST00000448511.5:c.1257C>A	ENSP00000404567.1:n.1257C>A
ENST00000456369.5:c.263+4703C>A
ENST00000464581.6:c.707C>A	ENSP00000483777.2:p.Ser236Ter
ENST00000648295.1:n.919C>A
ENST00000649563.1:c.704C>A	ENSP00000496928.1:p.Ser235Ter
ENST00000650281.1:c.1367C>A	ENSP00000497000.1:p.Ser456Ter
ENST00000711048.1:c.*102C>A	ENSP00000518557.1:n.*102C>A
XM_006724114.2:c.887C>A	XP_006724177.1:p.Ser296Ter
XM_006724114.3:c.920C>A	XP_006724177.2:p.Ser307Ter
XM_006724116.2:c.824C>A	XP_006724179.2:p.Ser275Ter
XM_011529839.1:c.1526C>A	XP_011528141.1:p.Ser509Ter
XM_011529839.2:c.1526C>A	XP_011528141.1:p.Ser509Ter
XM_011529840.1:c.1439C>A	XP_011528142.1:p.Ser480Ter
XM_011529840.3:c.1439C>A	XP_011528142.1:p.Ser480Ter
XM_011529841.1:c.1295C>A	XP_011528143.1:p.Ser432Ter
XM_011529842.1:c.1196C>A	XP_011528144.1:p.Ser399Ter
XM_011529842.2:c.1196C>A	XP_011528144.1:p.Ser399Ter
XM_011529843.1:c.1166C>A	XP_011528145.1:p.Ser389Ter
XM_011529845.1:c.704C>A	XP_011528147.1:p.Ser235Ter
XM_011529845.2:c.704C>A	XP_011528147.1:p.Ser235Ter
XM_017028560.1:c.1490C>A	XP_016884049.1:p.Ser497Ter
XM_017028561.2:c.704C>A	XP_016884050.1:p.Ser235Ter
XM_024452148.1:c.1397C>A	XP_024307916.1:p.Ser466Ter
XM_024452149.1:c.1310C>A	XP_024307917.1:p.Ser437Ter
XR_937805.1:n.1526C>A
XR_937805.2:n.1537C>A