Canonical Allele Identifier: CA411096243

Gene: CHEK2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695219G>T , CM000684.2:g.28695219G>T	GRCh38
NC_000022.10:g.29091207G>T , CM000684.1:g.29091207G>T	GRCh37
NC_000022.9:g.27421207G>T	NCBI36
NG_008150.1:g.51616C>A
NG_008150.2:g.51648C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*18C>A	ENSP00000518557.1:n.*18C>A
ENST00000402731.6:c.1082C>A	ENSP00000384835.2:p.Ser361Tyr
ENST00000404276.6:c.1283C>A MANE Select	ENSP00000385747.1:p.Ser428Tyr
ENST00000425190.7:c.620C>A	ENSP00000390244.2:p.Ser207Tyr
ENST00000464581.6:c.623C>A	ENSP00000483777.2:p.Ser208Tyr
ENST00000648295.1:n.835C>A
ENST00000649563.1:c.620C>A	ENSP00000496928.1:p.Ser207Tyr
ENST00000650281.1:c.1283C>A	ENSP00000497000.1:p.Ser428Tyr
ENST00000328354.10:c.1283C>A	ENSP00000329178.6:p.Ser428Tyr
ENST00000348295.7:c.1196C>A	ENSP00000329012.5:p.Ser399Tyr
ENST00000382580.6:c.1412C>A	ENSP00000372023.2:p.Ser471Tyr
ENST00000402731.5:c.1196C>A	ENSP00000384835.1:p.Ser399Tyr
ENST00000403642.5:c.1010C>A	ENSP00000384919.1:p.Ser337Tyr
ENST00000404276.5:c.1283C>A	ENSP00000385747.1:p.Ser428Tyr
ENST00000405598.5:c.1283C>A	ENSP00000386087.1:p.Ser428Tyr
ENST00000416671.5:c.*773C>A	ENSP00000402225.1:n.*773C>A
ENST00000417588.5:c.1192C>A	ENSP00000412901.1:n.1192C>A
ENST00000433728.5:c.1221C>A	ENSP00000404400.1:n.1221C>A
ENST00000434810.5:c.491-10C>A
ENST00000448511.5:c.1173C>A	ENSP00000404567.1:n.1173C>A
ENST00000456369.5:c.263+4619C>A
NM_001005735.1:c.1412C>A	NP_001005735.1:p.Ser471Tyr
NM_001257387.1:c.620C>A	NP_001244316.1:p.Ser207Tyr
NM_007194.3:c.1283C>A	NP_009125.1:p.Ser428Tyr
NM_145862.2:c.1196C>A	NP_665861.1:p.Ser399Tyr
XM_006724114.2:c.803C>A	XP_006724177.1:p.Ser268Tyr
XM_006724116.2:c.740C>A	XP_006724179.2:p.Ser247Tyr
XM_011529839.1:c.1442C>A	XP_011528141.1:p.Ser481Tyr
XM_011529840.1:c.1355C>A	XP_011528142.1:p.Ser452Tyr
XM_011529841.1:c.1211C>A	XP_011528143.1:p.Ser404Tyr
XM_011529842.1:c.1112C>A	XP_011528144.1:p.Ser371Tyr
XM_011529843.1:c.1082C>A	XP_011528145.1:p.Ser361Tyr
XM_011529845.1:c.620C>A	XP_011528147.1:p.Ser207Tyr
XR_937805.1:n.1442C>A
NM_001349956.1:c.1082C>A	NP_001336885.1:p.Ser361Tyr
NM_007194.4:c.1283C>A MANE Select	NP_009125.1:p.Ser428Tyr
XM_006724114.3:c.836C>A	XP_006724177.2:p.Ser279Tyr
XM_011529839.2:c.1442C>A	XP_011528141.1:p.Ser481Tyr
XM_011529840.3:c.1355C>A	XP_011528142.1:p.Ser452Tyr
XM_011529842.2:c.1112C>A	XP_011528144.1:p.Ser371Tyr
XM_011529845.2:c.620C>A	XP_011528147.1:p.Ser207Tyr
XM_017028560.1:c.1406C>A	XP_016884049.1:p.Ser469Tyr
XM_017028561.2:c.620C>A	XP_016884050.1:p.Ser207Tyr
XM_024452148.1:c.1313C>A	XP_024307916.1:p.Ser438Tyr
XM_024452149.1:c.1226C>A	XP_024307917.1:p.Ser409Tyr
XR_937805.2:n.1453C>A
NM_001005735.2:c.1412C>A	NP_001005735.1:p.Ser471Tyr
NM_001257387.2:c.620C>A	NP_001244316.1:p.Ser207Tyr
NM_001349956.2:c.1082C>A	NP_001336885.1:p.Ser361Tyr