Canonical Allele Identifier: CA166219

Gene: CHEK2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28689164A>G , CM000684.2:g.28689164A>G	GRCh38
NC_000022.10:g.29085152A>G , CM000684.1:g.29085152A>G	GRCh37
NC_000022.9:g.27415152A>G	NCBI36
NG_008150.1:g.57671T>C
NG_008150.2:g.57703T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*248T>C	ENSP00000518557.1:n.*248T>C
ENST00000402731.6:c.1312T>C	ENSP00000384835.2:p.Ser438Pro
ENST00000404276.6:c.1513T>C MANE Select	ENSP00000385747.1:p.Ser505Pro
ENST00000425190.7:c.850T>C	ENSP00000390244.2:p.Ser284Pro
ENST00000464581.6:c.853T>C	ENSP00000483777.2:p.Ser285Pro
ENST00000648295.1:n.1065T>C
ENST00000649563.1:c.850T>C	ENSP00000496928.1:p.Ser284Pro
ENST00000650281.1:c.1513T>C	ENSP00000497000.1:p.Ser505Pro
ENST00000328354.10:c.1513T>C	ENSP00000329178.6:p.Ser505Pro
ENST00000348295.7:c.1426T>C	ENSP00000329012.5:p.Ser476Pro
ENST00000382580.6:c.1642T>C	ENSP00000372023.2:p.Ser548Pro
ENST00000402731.5:c.1426T>C	ENSP00000384835.1:p.Ser476Pro
ENST00000403642.5:c.1240T>C	ENSP00000384919.1:p.Ser414Pro
ENST00000404276.5:c.1513T>C	ENSP00000385747.1:p.Ser505Pro
ENST00000405598.5:c.1513T>C	ENSP00000386087.1:p.Ser505Pro
ENST00000416671.5:c.*1003T>C	ENSP00000402225.1:n.*1003T>C
ENST00000417588.5:c.1422T>C	ENSP00000412901.1:n.1422T>C
ENST00000433728.5:c.1451T>C	ENSP00000404400.1:n.1451T>C
ENST00000434810.5:c.711T>C
ENST00000448511.5:c.1403T>C	ENSP00000404567.1:n.1403T>C
ENST00000456369.5:c.315T>C
ENST00000472807.1:n.247T>C
NM_001005735.1:c.1642T>C	NP_001005735.1:p.Ser548Pro
NM_001257387.1:c.850T>C	NP_001244316.1:p.Ser284Pro
NM_007194.3:c.1513T>C	NP_009125.1:p.Ser505Pro
NM_145862.2:c.1426T>C	NP_665861.1:p.Ser476Pro
XM_006724114.2:c.1033T>C	XP_006724177.1:p.Ser345Pro
XM_006724116.2:c.970T>C	XP_006724179.2:p.Ser324Pro
XM_011529839.1:c.1672T>C	XP_011528141.1:p.Ser558Pro
XM_011529840.1:c.1585T>C	XP_011528142.1:p.Ser529Pro
XM_011529841.1:c.1441T>C	XP_011528143.1:p.Ser481Pro
XM_011529842.1:c.1342T>C	XP_011528144.1:p.Ser448Pro
XM_011529843.1:c.1312T>C	XP_011528145.1:p.Ser438Pro
XM_011529845.1:c.850T>C	XP_011528147.1:p.Ser284Pro
XR_937805.1:n.1672T>C
NM_001349956.1:c.1312T>C	NP_001336885.1:p.Ser438Pro
NM_007194.4:c.1513T>C MANE Select	NP_009125.1:p.Ser505Pro
XM_006724114.3:c.1066T>C	XP_006724177.2:p.Ser356Pro
XM_011529839.2:c.1672T>C	XP_011528141.1:p.Ser558Pro
XM_011529840.3:c.1585T>C	XP_011528142.1:p.Ser529Pro
XM_011529842.2:c.1342T>C	XP_011528144.1:p.Ser448Pro
XM_011529845.2:c.850T>C	XP_011528147.1:p.Ser284Pro
XM_017028560.1:c.1636T>C	XP_016884049.1:p.Ser546Pro
XM_017028561.2:c.850T>C	XP_016884050.1:p.Ser284Pro
XM_024452148.1:c.1543T>C	XP_024307916.1:p.Ser515Pro
XM_024452149.1:c.1456T>C	XP_024307917.1:p.Ser486Pro
XR_937805.2:n.1683T>C
NM_001005735.2:c.1642T>C	NP_001005735.1:p.Ser548Pro
NM_001257387.2:c.850T>C	NP_001244316.1:p.Ser284Pro
NM_001349956.2:c.1312T>C	NP_001336885.1:p.Ser438Pro