Canonical Allele Identifier: CA411092361

Gene: CHEK2

Linked Data

• dbSNP Id: rs1398732281
• MyVariant Identifiers: chr22:g.29085148G>T (hg19) ; chr22:g.28689160G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28689160G>T , CM000684.2:g.28689160G>T	GRCh38
NC_000022.10:g.29085148G>T , CM000684.1:g.29085148G>T	GRCh37
NC_000022.9:g.27415148G>T	NCBI36
NG_008150.1:g.57675C>A
NG_008150.2:g.57707C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*252C>A	ENSP00000518557.1:n.*252C>A
ENST00000402731.6:c.1316C>A	ENSP00000384835.2:p.Thr439Lys
ENST00000404276.6:c.1517C>A MANE Select	ENSP00000385747.1:p.Thr506Lys
ENST00000425190.7:c.854C>A	ENSP00000390244.2:p.Thr285Lys
ENST00000464581.6:c.857C>A	ENSP00000483777.2:p.Thr286Lys
ENST00000648295.1:n.1069C>A
ENST00000649563.1:c.854C>A	ENSP00000496928.1:p.Thr285Lys
ENST00000650281.1:c.1517C>A	ENSP00000497000.1:p.Thr506Lys
ENST00000328354.10:c.1517C>A	ENSP00000329178.6:p.Thr506Lys
ENST00000348295.7:c.1430C>A	ENSP00000329012.5:p.Thr477Lys
ENST00000382580.6:c.1646C>A	ENSP00000372023.2:p.Thr549Lys
ENST00000402731.5:c.1430C>A	ENSP00000384835.1:p.Thr477Lys
ENST00000403642.5:c.1244C>A	ENSP00000384919.1:p.Thr415Lys
ENST00000404276.5:c.1517C>A	ENSP00000385747.1:p.Thr506Lys
ENST00000405598.5:c.1517C>A	ENSP00000386087.1:p.Thr506Lys
ENST00000416671.5:c.*1007C>A	ENSP00000402225.1:n.*1007C>A
ENST00000417588.5:c.1426C>A	ENSP00000412901.1:n.1426C>A
ENST00000433728.5:c.1455C>A	ENSP00000404400.1:n.1455C>A
ENST00000434810.5:c.715C>A
ENST00000448511.5:c.1407C>A	ENSP00000404567.1:n.1407C>A
ENST00000456369.5:c.319C>A
ENST00000472807.1:n.251C>A
NM_001005735.1:c.1646C>A	NP_001005735.1:p.Thr549Lys
NM_001257387.1:c.854C>A	NP_001244316.1:p.Thr285Lys
NM_007194.3:c.1517C>A	NP_009125.1:p.Thr506Lys
NM_145862.2:c.1430C>A	NP_665861.1:p.Thr477Lys
XM_006724114.2:c.1037C>A	XP_006724177.1:p.Thr346Lys
XM_006724116.2:c.974C>A	XP_006724179.2:p.Thr325Lys
XM_011529839.1:c.1676C>A	XP_011528141.1:p.Thr559Lys
XM_011529840.1:c.1589C>A	XP_011528142.1:p.Thr530Lys
XM_011529841.1:c.1445C>A	XP_011528143.1:p.Thr482Lys
XM_011529842.1:c.1346C>A	XP_011528144.1:p.Thr449Lys
XM_011529843.1:c.1316C>A	XP_011528145.1:p.Thr439Lys
XM_011529845.1:c.854C>A	XP_011528147.1:p.Thr285Lys
XR_937805.1:n.1676C>A
NM_001349956.1:c.1316C>A	NP_001336885.1:p.Thr439Lys
NM_007194.4:c.1517C>A MANE Select	NP_009125.1:p.Thr506Lys
XM_006724114.3:c.1070C>A	XP_006724177.2:p.Thr357Lys
XM_011529839.2:c.1676C>A	XP_011528141.1:p.Thr559Lys
XM_011529840.3:c.1589C>A	XP_011528142.1:p.Thr530Lys
XM_011529842.2:c.1346C>A	XP_011528144.1:p.Thr449Lys
XM_011529845.2:c.854C>A	XP_011528147.1:p.Thr285Lys
XM_017028560.1:c.1640C>A	XP_016884049.1:p.Thr547Lys
XM_017028561.2:c.854C>A	XP_016884050.1:p.Thr285Lys
XM_024452148.1:c.1547C>A	XP_024307916.1:p.Thr516Lys
XM_024452149.1:c.1460C>A	XP_024307917.1:p.Thr487Lys
XR_937805.2:n.1687C>A
NM_001005735.2:c.1646C>A	NP_001005735.1:p.Thr549Lys
NM_001257387.2:c.854C>A	NP_001244316.1:p.Thr285Lys
NM_001349956.2:c.1316C>A	NP_001336885.1:p.Thr439Lys