Canonical Allele Identifier: CA411096993

Gene: CHEK2

Linked Data

• dbSNP Id: rs1601723329
• MyVariant Identifiers: chr22:g.29091825T>G (hg19) ; chr22:g.28695837T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695837T>G , CM000684.2:g.28695837T>G	GRCh38
NC_000022.10:g.29091825T>G , CM000684.1:g.29091825T>G	GRCh37
NC_000022.9:g.27421825T>G	NCBI36
NG_008150.1:g.50998A>C
NG_008150.2:g.51030A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-595A>C	ENSP00000518557.1:n.1009-595A>C
ENST00000402731.6:c.931A>C	ENSP00000384835.2:p.Thr311Pro
ENST00000404276.6:c.1132A>C MANE Select	ENSP00000385747.1:p.Thr378Pro
ENST00000425190.7:c.469A>C	ENSP00000390244.2:p.Thr157Pro
ENST00000464581.6:c.472A>C	ENSP00000483777.2:p.Thr158Pro
ENST00000648295.1:n.684A>C
ENST00000649563.1:c.469A>C	ENSP00000496928.1:p.Thr157Pro
ENST00000650281.1:c.1132A>C	ENSP00000497000.1:p.Thr378Pro
ENST00000328354.10:c.1132A>C	ENSP00000329178.6:p.Thr378Pro
ENST00000348295.7:c.1045A>C	ENSP00000329012.5:p.Thr349Pro
ENST00000382580.6:c.1261A>C	ENSP00000372023.2:p.Thr421Pro
ENST00000402731.5:c.1045A>C	ENSP00000384835.1:p.Thr349Pro
ENST00000403642.5:c.859A>C	ENSP00000384919.1:p.Thr287Pro
ENST00000404276.5:c.1132A>C	ENSP00000385747.1:p.Thr378Pro
ENST00000405598.5:c.1132A>C	ENSP00000386087.1:p.Thr378Pro
ENST00000416671.5:c.*622A>C	ENSP00000402225.1:n.*622A>C
ENST00000417588.5:c.1041A>C	ENSP00000412901.1:n.1041A>C
ENST00000433728.5:c.1070A>C	ENSP00000404400.1:n.1070A>C
ENST00000434810.5:c.363A>C
ENST00000448511.5:c.1022A>C	ENSP00000404567.1:n.1022A>C
ENST00000456369.5:c.263+4001A>C
NM_001005735.1:c.1261A>C	NP_001005735.1:p.Thr421Pro
NM_001257387.1:c.469A>C	NP_001244316.1:p.Thr157Pro
NM_007194.3:c.1132A>C	NP_009125.1:p.Thr378Pro
NM_145862.2:c.1045A>C	NP_665861.1:p.Thr349Pro
XM_006724114.2:c.652A>C	XP_006724177.1:p.Thr218Pro
XM_006724116.2:c.589A>C	XP_006724179.2:p.Thr197Pro
XM_011529839.1:c.1291A>C	XP_011528141.1:p.Thr431Pro
XM_011529840.1:c.1204A>C	XP_011528142.1:p.Thr402Pro
XM_011529841.1:c.1060A>C	XP_011528143.1:p.Thr354Pro
XM_011529842.1:c.961A>C	XP_011528144.1:p.Thr321Pro
XM_011529843.1:c.931A>C	XP_011528145.1:p.Thr311Pro
XM_011529845.1:c.469A>C	XP_011528147.1:p.Thr157Pro
XR_937805.1:n.1291A>C
XR_937806.1:n.1199A>C
NM_001349956.1:c.931A>C	NP_001336885.1:p.Thr311Pro
NM_007194.4:c.1132A>C MANE Select	NP_009125.1:p.Thr378Pro
XM_006724114.3:c.685A>C	XP_006724177.2:p.Thr229Pro
XM_011529839.2:c.1291A>C	XP_011528141.1:p.Thr431Pro
XM_011529840.3:c.1204A>C	XP_011528142.1:p.Thr402Pro
XM_011529842.2:c.961A>C	XP_011528144.1:p.Thr321Pro
XM_011529845.2:c.469A>C	XP_011528147.1:p.Thr157Pro
XM_017028560.1:c.1255A>C	XP_016884049.1:p.Thr419Pro
XM_017028561.2:c.469A>C	XP_016884050.1:p.Thr157Pro
XM_024452148.1:c.1162A>C	XP_024307916.1:p.Thr388Pro
XM_024452149.1:c.1075A>C	XP_024307917.1:p.Thr359Pro
XR_937805.2:n.1302A>C
XR_937806.2:n.1215A>C
NM_001005735.2:c.1261A>C	NP_001005735.1:p.Thr421Pro
NM_001257387.2:c.469A>C	NP_001244316.1:p.Thr157Pro
NM_001349956.2:c.931A>C	NP_001336885.1:p.Thr311Pro