Canonical Allele Identifier: CA638797443

Gene: CHEK2

Linked Data

• dbSNP Id: rs1396881231
• gnomAD v2: 22-29089958-T-G
• gnomAD v4: 22-28693970-T-G
• MyVariant Identifiers: chr22:g.29089958T>G (hg19) ; chr22:g.28693970T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28693970T>G , CM000684.2:g.28693970T>G	GRCh38
NC_000022.10:g.29089958T>G , CM000684.1:g.29089958T>G	GRCh37
NC_000022.9:g.27419958T>G	NCBI36
NG_008150.1:g.52865A>C
NG_008150.2:g.52897A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.*196+62A>C	ENSP00000518557.1:n.*196+62A>C
ENST00000402731.6:c.1260+62A>C	ENSP00000384835.2:n.1260+62A>C
ENST00000404276.6:c.1461+62A>C MANE Select	ENSP00000385747.1:n.1461+62A>C
ENST00000425190.7:c.798+62A>C	ENSP00000390244.2:n.798+62A>C
ENST00000464581.6:c.801+62A>C	ENSP00000483777.2:n.801+62A>C
ENST00000648295.1:n.1013+62A>C
ENST00000649563.1:c.798+62A>C	ENSP00000496928.1:n.798+62A>C
ENST00000650281.1:c.1461+62A>C	ENSP00000497000.1:n.1461+62A>C
ENST00000328354.10:c.1461+62A>C	ENSP00000329178.6:n.1461+62A>C
ENST00000348295.7:c.1374+62A>C	ENSP00000329012.5:n.1374+62A>C
ENST00000382580.6:c.1590+62A>C	ENSP00000372023.2:n.1590+62A>C
ENST00000402731.5:c.1374+62A>C	ENSP00000384835.1:n.1374+62A>C
ENST00000403642.5:c.1188+62A>C	ENSP00000384919.1:n.1188+62A>C
ENST00000404276.5:c.1461+62A>C	ENSP00000385747.1:n.1461+62A>C
ENST00000405598.5:c.1461+62A>C	ENSP00000386087.1:n.1461+62A>C
ENST00000416671.5:c.*951+62A>C	ENSP00000402225.1:n.*951+62A>C
ENST00000417588.5:c.1370+62A>C	ENSP00000412901.1:n.1370+62A>C
ENST00000433728.5:c.1399+62A>C	ENSP00000404400.1:n.1399+62A>C
ENST00000434810.5:c.659+62A>C
ENST00000448511.5:c.1351+62A>C	ENSP00000404567.1:n.1351+62A>C
ENST00000456369.5:c.264-4755A>C
NM_001005735.1:c.1590+62A>C	NP_001005735.1:n.1590+62A>C
NM_001257387.1:c.798+62A>C	NP_001244316.1:n.798+62A>C
NM_007194.3:c.1461+62A>C	NP_009125.1:n.1461+62A>C
NM_145862.2:c.1374+62A>C	NP_665861.1:n.1374+62A>C
XM_006724114.2:c.981+62A>C	XP_006724177.1:n.981+62A>C
XM_006724116.2:c.918+62A>C	XP_006724179.2:n.918+62A>C
XM_011529839.1:c.1620+62A>C	XP_011528141.1:n.1620+62A>C
XM_011529840.1:c.1533+62A>C	XP_011528142.1:n.1533+62A>C
XM_011529841.1:c.1389+62A>C	XP_011528143.1:n.1389+62A>C
XM_011529842.1:c.1290+62A>C	XP_011528144.1:n.1290+62A>C
XM_011529843.1:c.1260+62A>C	XP_011528145.1:n.1260+62A>C
XM_011529845.1:c.798+62A>C	XP_011528147.1:n.798+62A>C
XR_937805.1:n.1620+62A>C
NM_001349956.1:c.1260+62A>C	NP_001336885.1:n.1260+62A>C
NM_007194.4:c.1461+62A>C MANE Select	NP_009125.1:n.1461+62A>C
XM_006724114.3:c.1014+62A>C	XP_006724177.2:n.1014+62A>C
XM_011529839.2:c.1620+62A>C	XP_011528141.1:n.1620+62A>C
XM_011529840.3:c.1533+62A>C	XP_011528142.1:n.1533+62A>C
XM_011529842.2:c.1290+62A>C	XP_011528144.1:n.1290+62A>C
XM_011529845.2:c.798+62A>C	XP_011528147.1:n.798+62A>C
XM_017028560.1:c.1584+62A>C	XP_016884049.1:n.1584+62A>C
XM_017028561.2:c.798+62A>C	XP_016884050.1:n.798+62A>C
XM_024452148.1:c.1491+62A>C	XP_024307916.1:n.1491+62A>C
XM_024452149.1:c.1404+62A>C	XP_024307917.1:n.1404+62A>C
XR_937805.2:n.1631+62A>C
NM_001005735.2:c.1590+62A>C	NP_001005735.1:n.1590+62A>C
NM_001257387.2:c.798+62A>C	NP_001244316.1:n.798+62A>C
NM_001349956.2:c.1260+62A>C	NP_001336885.1:n.1260+62A>C