Canonical Allele Identifier: CA513945021
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 700364
dbSNP Id: rs1601738446
MyVariant Identifiers: chr22:g.29095853A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28699865A>G , CM000684.2:g.28699865A>G GRCh38
NC_000022.10:g.29095853A>G , CM000684.1:g.29095853A>G GRCh37
NC_000022.9:g.27425853A>G NCBI36
NG_008150.1:g.46970T>C
NG_008150.2:g.47002T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000439346.6:c.890T>C ENSP00000396903.2:n.890T>C
ENST00000711048.1:c.981T>C ENSP00000518557.1:p.Tyr327=
ENST00000402731.6:c.780T>C ENSP00000384835.2:p.Tyr260=
ENST00000404276.6:c.981T>C MANE Select ENSP00000385747.1:p.Tyr327=
ENST00000425190.7:c.318T>C ENSP00000390244.2:p.Tyr106=
ENST00000464581.6:c.321T>C ENSP00000483777.2:p.Tyr107=
ENST00000648295.1:n.533T>C
ENST00000649563.1:c.318T>C ENSP00000496928.1:p.Tyr106=
ENST00000650281.1:c.981T>C ENSP00000497000.1:p.Tyr327=
ENST00000328354.10:c.981T>C ENSP00000329178.6:p.Tyr327=
ENST00000348295.7:c.981T>C ENSP00000329012.5:p.Tyr327=
ENST00000382580.6:c.1110T>C ENSP00000372023.2:p.Tyr370=
ENST00000402731.5:c.981T>C ENSP00000384835.1:p.Tyr327=
ENST00000403642.5:c.708T>C ENSP00000384919.1:p.Tyr236=
ENST00000404276.5:c.981T>C ENSP00000385747.1:p.Tyr327=
ENST00000405598.5:c.981T>C ENSP00000386087.1:p.Tyr327=
ENST00000416671.5:c.*471T>C ENSP00000402225.1:n.*471T>C
ENST00000417588.5:c.890T>C ENSP00000412901.1:n.890T>C
ENST00000425190.6:c.318T>C ENSP00000390244.1:p.Tyr106=
ENST00000433028.6:c.*706T>C ENSP00000403659.1:n.*706T>C
ENST00000433728.5:c.919T>C ENSP00000404400.1:n.919T>C
ENST00000434810.5:c.212T>C
ENST00000439346.5:c.452T>C ENSP00000396903.1:n.452T>C
ENST00000447421.5:c.780T>C ENSP00000397478.2:p.Tyr260=
ENST00000448511.5:c.871T>C ENSP00000404567.1:n.871T>C
ENST00000456369.5:c.236T>C
ENST00000464581.5:c.321T>C ENSP00000483777.1:p.Tyr107=
ENST00000491919.5:n.538T>C
NM_001005735.1:c.1110T>C NP_001005735.1:p.Tyr370=
NM_001257387.1:c.318T>C NP_001244316.1:p.Tyr106=
NM_007194.3:c.981T>C NP_009125.1:p.Tyr327=
NM_145862.2:c.981T>C NP_665861.1:p.Tyr327=
XM_006724114.2:c.501T>C XP_006724177.1:p.Tyr167=
XM_006724116.2:c.438T>C XP_006724179.2:p.Tyr146=
XM_011529839.1:c.1140T>C XP_011528141.1:p.Tyr380=
XM_011529840.1:c.1140T>C XP_011528142.1:p.Tyr380=
XM_011529841.1:c.909T>C XP_011528143.1:p.Tyr303=
XM_011529842.1:c.810T>C XP_011528144.1:p.Tyr270=
XM_011529843.1:c.780T>C XP_011528145.1:p.Tyr260=
XM_011529844.1:c.1140T>C XP_011528146.1:p.Tyr380=
XM_011529845.1:c.318T>C XP_011528147.1:p.Tyr106=
XR_937805.1:n.1140T>C
XR_937806.1:n.1135T>C
XR_937807.1:n.1135T>C
NM_001349956.1:c.780T>C NP_001336885.1:p.Tyr260=
NM_007194.4:c.981T>C MANE Select NP_009125.1:p.Tyr327=
XM_006724114.3:c.534T>C XP_006724177.2:p.Tyr178=
XM_011529839.2:c.1140T>C XP_011528141.1:p.Tyr380=
XM_011529840.3:c.1140T>C XP_011528142.1:p.Tyr380=
XM_011529842.2:c.810T>C XP_011528144.1:p.Tyr270=
XM_011529844.2:c.1140T>C XP_011528146.1:p.Tyr380=
XM_011529845.2:c.318T>C XP_011528147.1:p.Tyr106=
XM_017028560.1:c.1104T>C XP_016884049.1:p.Tyr368=
XM_017028561.2:c.318T>C XP_016884050.1:p.Tyr106=
XM_024452148.1:c.1011T>C XP_024307916.1:p.Tyr337=
XM_024452149.1:c.1011T>C XP_024307917.1:p.Tyr337=
XR_937805.2:n.1151T>C
XR_937806.2:n.1151T>C
XR_937807.2:n.1151T>C
NM_001005735.2:c.1110T>C NP_001005735.1:p.Tyr370=
NM_001257387.2:c.318T>C NP_001244316.1:p.Tyr106=
NM_001349956.2:c.780T>C NP_001336885.1:p.Tyr260=