Canonical Allele Identifier: CA10167647

Gene: CHEK2

Linked Data

• dbSNP Id: rs377590647
• ExAC: 22:29089976 G / A
• gnomAD v2: 22-29089976-G-A
• gnomAD v3: 22-28693988-G-A
• gnomAD v4: 22-28693988-G-A
• MyVariant Identifiers: chr22:g.29089976G>A (hg19) ; chr22:g.28693988G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28693988G>A , CM000684.2:g.28693988G>A	GRCh38
NC_000022.10:g.29089976G>A , CM000684.1:g.29089976G>A	GRCh37
NC_000022.9:g.27419976G>A	NCBI36
NG_008150.1:g.52847C>T
NG_008150.2:g.52879C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.*196+44C>T	ENSP00000518557.1:n.*196+44C>T
ENST00000402731.6:c.1260+44C>T	ENSP00000384835.2:n.1260+44C>T
ENST00000404276.6:c.1461+44C>T MANE Select	ENSP00000385747.1:n.1461+44C>T
ENST00000425190.7:c.798+44C>T	ENSP00000390244.2:n.798+44C>T
ENST00000464581.6:c.801+44C>T	ENSP00000483777.2:n.801+44C>T
ENST00000648295.1:n.1013+44C>T
ENST00000649563.1:c.798+44C>T	ENSP00000496928.1:n.798+44C>T
ENST00000650281.1:c.1461+44C>T	ENSP00000497000.1:n.1461+44C>T
ENST00000328354.10:c.1461+44C>T	ENSP00000329178.6:n.1461+44C>T
ENST00000348295.7:c.1374+44C>T	ENSP00000329012.5:n.1374+44C>T
ENST00000382580.6:c.1590+44C>T	ENSP00000372023.2:n.1590+44C>T
ENST00000402731.5:c.1374+44C>T	ENSP00000384835.1:n.1374+44C>T
ENST00000403642.5:c.1188+44C>T	ENSP00000384919.1:n.1188+44C>T
ENST00000404276.5:c.1461+44C>T	ENSP00000385747.1:n.1461+44C>T
ENST00000405598.5:c.1461+44C>T	ENSP00000386087.1:n.1461+44C>T
ENST00000416671.5:c.*951+44C>T	ENSP00000402225.1:n.*951+44C>T
ENST00000417588.5:c.1370+44C>T	ENSP00000412901.1:n.1370+44C>T
ENST00000433728.5:c.1399+44C>T	ENSP00000404400.1:n.1399+44C>T
ENST00000434810.5:c.659+44C>T
ENST00000448511.5:c.1351+44C>T	ENSP00000404567.1:n.1351+44C>T
ENST00000456369.5:c.264-4773C>T
NM_001005735.1:c.1590+44C>T	NP_001005735.1:n.1590+44C>T
NM_001257387.1:c.798+44C>T	NP_001244316.1:n.798+44C>T
NM_007194.3:c.1461+44C>T	NP_009125.1:n.1461+44C>T
NM_145862.2:c.1374+44C>T	NP_665861.1:n.1374+44C>T
XM_006724114.2:c.981+44C>T	XP_006724177.1:n.981+44C>T
XM_006724116.2:c.918+44C>T	XP_006724179.2:n.918+44C>T
XM_011529839.1:c.1620+44C>T	XP_011528141.1:n.1620+44C>T
XM_011529840.1:c.1533+44C>T	XP_011528142.1:n.1533+44C>T
XM_011529841.1:c.1389+44C>T	XP_011528143.1:n.1389+44C>T
XM_011529842.1:c.1290+44C>T	XP_011528144.1:n.1290+44C>T
XM_011529843.1:c.1260+44C>T	XP_011528145.1:n.1260+44C>T
XM_011529845.1:c.798+44C>T	XP_011528147.1:n.798+44C>T
XR_937805.1:n.1620+44C>T
NM_001349956.1:c.1260+44C>T	NP_001336885.1:n.1260+44C>T
NM_007194.4:c.1461+44C>T MANE Select	NP_009125.1:n.1461+44C>T
XM_006724114.3:c.1014+44C>T	XP_006724177.2:n.1014+44C>T
XM_011529839.2:c.1620+44C>T	XP_011528141.1:n.1620+44C>T
XM_011529840.3:c.1533+44C>T	XP_011528142.1:n.1533+44C>T
XM_011529842.2:c.1290+44C>T	XP_011528144.1:n.1290+44C>T
XM_011529845.2:c.798+44C>T	XP_011528147.1:n.798+44C>T
XM_017028560.1:c.1584+44C>T	XP_016884049.1:n.1584+44C>T
XM_017028561.2:c.798+44C>T	XP_016884050.1:n.798+44C>T
XM_024452148.1:c.1491+44C>T	XP_024307916.1:n.1491+44C>T
XM_024452149.1:c.1404+44C>T	XP_024307917.1:n.1404+44C>T
XR_937805.2:n.1631+44C>T
NM_001005735.2:c.1590+44C>T	NP_001005735.1:n.1590+44C>T
NM_001257387.2:c.798+44C>T	NP_001244316.1:n.798+44C>T
NM_001349956.2:c.1260+44C>T	NP_001336885.1:n.1260+44C>T