Canonical Allele Identifier: CA411092327

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 1774570
• ClinVar RCV Id: RCV002400827
• MyVariant Identifiers: chr22:g.29085136T>A (hg19) ; chr22:g.28689148T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28689148T>A , CM000684.2:g.28689148T>A	GRCh38
NC_000022.10:g.29085136T>A , CM000684.1:g.29085136T>A	GRCh37
NC_000022.9:g.27415136T>A	NCBI36
NG_008150.1:g.57687A>T
NG_008150.2:g.57719A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*264A>T	ENSP00000518557.1:n.*264A>T
ENST00000402731.6:c.1328A>T	ENSP00000384835.2:p.Gln443Leu
ENST00000404276.6:c.1529A>T MANE Select	ENSP00000385747.1:p.Gln510Leu
ENST00000425190.7:c.866A>T	ENSP00000390244.2:p.Gln289Leu
ENST00000464581.6:c.869A>T	ENSP00000483777.2:p.Gln290Leu
ENST00000648295.1:n.1081A>T
ENST00000649563.1:c.866A>T	ENSP00000496928.1:p.Gln289Leu
ENST00000650281.1:c.1529A>T	ENSP00000497000.1:p.Gln510Leu
ENST00000328354.10:c.1529A>T	ENSP00000329178.6:p.Gln510Leu
ENST00000348295.7:c.1442A>T	ENSP00000329012.5:p.Gln481Leu
ENST00000382580.6:c.1658A>T	ENSP00000372023.2:p.Gln553Leu
ENST00000402731.5:c.1442A>T	ENSP00000384835.1:p.Gln481Leu
ENST00000403642.5:c.1256A>T	ENSP00000384919.1:p.Gln419Leu
ENST00000404276.5:c.1529A>T	ENSP00000385747.1:p.Gln510Leu
ENST00000405598.5:c.1529A>T	ENSP00000386087.1:p.Gln510Leu
ENST00000416671.5:c.*1019A>T	ENSP00000402225.1:n.*1019A>T
ENST00000417588.5:c.1438A>T	ENSP00000412901.1:n.1438A>T
ENST00000433728.5:c.1467A>T	ENSP00000404400.1:n.1467A>T
ENST00000434810.5:c.727A>T
ENST00000448511.5:c.1419A>T	ENSP00000404567.1:n.1419A>T
ENST00000456369.5:c.331A>T
ENST00000472807.1:n.263A>T
NM_001005735.1:c.1658A>T	NP_001005735.1:p.Gln553Leu
NM_001257387.1:c.866A>T	NP_001244316.1:p.Gln289Leu
NM_007194.3:c.1529A>T	NP_009125.1:p.Gln510Leu
NM_145862.2:c.1442A>T	NP_665861.1:p.Gln481Leu
XM_006724114.2:c.1049A>T	XP_006724177.1:p.Gln350Leu
XM_006724116.2:c.986A>T	XP_006724179.2:p.Gln329Leu
XM_011529839.1:c.1688A>T	XP_011528141.1:p.Gln563Leu
XM_011529840.1:c.1601A>T	XP_011528142.1:p.Gln534Leu
XM_011529841.1:c.1457A>T	XP_011528143.1:p.Gln486Leu
XM_011529842.1:c.1358A>T	XP_011528144.1:p.Gln453Leu
XM_011529843.1:c.1328A>T	XP_011528145.1:p.Gln443Leu
XM_011529845.1:c.866A>T	XP_011528147.1:p.Gln289Leu
XR_937805.1:n.1688A>T
NM_001349956.1:c.1328A>T	NP_001336885.1:p.Gln443Leu
NM_007194.4:c.1529A>T MANE Select	NP_009125.1:p.Gln510Leu
XM_006724114.3:c.1082A>T	XP_006724177.2:p.Gln361Leu
XM_011529839.2:c.1688A>T	XP_011528141.1:p.Gln563Leu
XM_011529840.3:c.1601A>T	XP_011528142.1:p.Gln534Leu
XM_011529842.2:c.1358A>T	XP_011528144.1:p.Gln453Leu
XM_011529845.2:c.866A>T	XP_011528147.1:p.Gln289Leu
XM_017028560.1:c.1652A>T	XP_016884049.1:p.Gln551Leu
XM_017028561.2:c.866A>T	XP_016884050.1:p.Gln289Leu
XM_024452148.1:c.1559A>T	XP_024307916.1:p.Gln520Leu
XM_024452149.1:c.1472A>T	XP_024307917.1:p.Gln491Leu
XR_937805.2:n.1699A>T
NM_001005735.2:c.1658A>T	NP_001005735.1:p.Gln553Leu
NM_001257387.2:c.866A>T	NP_001244316.1:p.Gln289Leu
NM_001349956.2:c.1328A>T	NP_001336885.1:p.Gln443Leu