Canonical Allele Identifier: CA513944758

Gene: CHEK2

Linked Data

• dbSNP Id: rs2145785326
• MyVariant Identifiers: chr22:g.29090059A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694071A>C , CM000684.2:g.28694071A>C	GRCh38
NC_000022.10:g.29090059A>C , CM000684.1:g.29090059A>C	GRCh37
NC_000022.9:g.27420059A>C	NCBI36
NG_008150.1:g.52764T>G
NG_008150.2:g.52796T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.*157T>G	ENSP00000518557.1:n.*157T>G
ENST00000402731.6:c.1221T>G	ENSP00000384835.2:p.Arg407=
ENST00000404276.6:c.1422T>G MANE Select	ENSP00000385747.1:p.Arg474=
ENST00000425190.7:c.759T>G	ENSP00000390244.2:p.Arg253=
ENST00000464581.6:c.762T>G	ENSP00000483777.2:p.Arg254=
ENST00000648295.1:n.974T>G
ENST00000649563.1:c.759T>G	ENSP00000496928.1:p.Arg253=
ENST00000650281.1:c.1422T>G	ENSP00000497000.1:p.Arg474=
ENST00000328354.10:c.1422T>G	ENSP00000329178.6:p.Arg474=
ENST00000348295.7:c.1335T>G	ENSP00000329012.5:p.Arg445=
ENST00000382580.6:c.1551T>G	ENSP00000372023.2:p.Arg517=
ENST00000402731.5:c.1335T>G	ENSP00000384835.1:p.Arg445=
ENST00000403642.5:c.1149T>G	ENSP00000384919.1:p.Arg383=
ENST00000404276.5:c.1422T>G	ENSP00000385747.1:p.Arg474=
ENST00000405598.5:c.1422T>G	ENSP00000386087.1:p.Arg474=
ENST00000416671.5:c.*912T>G	ENSP00000402225.1:n.*912T>G
ENST00000417588.5:c.1331T>G	ENSP00000412901.1:n.1331T>G
ENST00000433728.5:c.1360T>G	ENSP00000404400.1:n.1360T>G
ENST00000434810.5:c.620T>G
ENST00000448511.5:c.1312T>G	ENSP00000404567.1:n.1312T>G
ENST00000456369.5:c.264-4856T>G
NM_001005735.1:c.1551T>G	NP_001005735.1:p.Arg517=
NM_001257387.1:c.759T>G	NP_001244316.1:p.Arg253=
NM_007194.3:c.1422T>G	NP_009125.1:p.Arg474=
NM_145862.2:c.1335T>G	NP_665861.1:p.Arg445=
XM_006724114.2:c.942T>G	XP_006724177.1:p.Arg314=
XM_006724116.2:c.879T>G	XP_006724179.2:p.Arg293=
XM_011529839.1:c.1581T>G	XP_011528141.1:p.Arg527=
XM_011529840.1:c.1494T>G	XP_011528142.1:p.Arg498=
XM_011529841.1:c.1350T>G	XP_011528143.1:p.Arg450=
XM_011529842.1:c.1251T>G	XP_011528144.1:p.Arg417=
XM_011529843.1:c.1221T>G	XP_011528145.1:p.Arg407=
XM_011529845.1:c.759T>G	XP_011528147.1:p.Arg253=
XR_937805.1:n.1581T>G
NM_001349956.1:c.1221T>G	NP_001336885.1:p.Arg407=
NM_007194.4:c.1422T>G MANE Select	NP_009125.1:p.Arg474=
XM_006724114.3:c.975T>G	XP_006724177.2:p.Arg325=
XM_011529839.2:c.1581T>G	XP_011528141.1:p.Arg527=
XM_011529840.3:c.1494T>G	XP_011528142.1:p.Arg498=
XM_011529842.2:c.1251T>G	XP_011528144.1:p.Arg417=
XM_011529845.2:c.759T>G	XP_011528147.1:p.Arg253=
XM_017028560.1:c.1545T>G	XP_016884049.1:p.Arg515=
XM_017028561.2:c.759T>G	XP_016884050.1:p.Arg253=
XM_024452148.1:c.1452T>G	XP_024307916.1:p.Arg484=
XM_024452149.1:c.1365T>G	XP_024307917.1:p.Arg455=
XR_937805.2:n.1592T>G
NM_001005735.2:c.1551T>G	NP_001005735.1:p.Arg517=
NM_001257387.2:c.759T>G	NP_001244316.1:p.Arg253=
NM_001349956.2:c.1221T>G	NP_001336885.1:p.Arg407=