Canonical Allele Identifier: CA411094282

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 638624
• ClinVar RCV Id: RCV002535842
• dbSNP Id: rs121908706
• MyVariant Identifiers: chr22:g.29090060C>A (hg19) ; chr22:g.28694072C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694072C>A , CM000684.2:g.28694072C>A	GRCh38
NC_000022.10:g.29090060C>A , CM000684.1:g.29090060C>A	GRCh37
NC_000022.9:g.27420060C>A	NCBI36
NG_008150.1:g.52763G>T
NG_008150.2:g.52795G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.*156G>T	ENSP00000518557.1:n.*156G>T
ENST00000402731.6:c.1220G>T	ENSP00000384835.2:p.Arg407Leu
ENST00000404276.6:c.1421G>T MANE Select	ENSP00000385747.1:p.Arg474Leu
ENST00000425190.7:c.758G>T	ENSP00000390244.2:p.Arg253Leu
ENST00000464581.6:c.761G>T	ENSP00000483777.2:p.Arg254Leu
ENST00000648295.1:n.973G>T
ENST00000649563.1:c.758G>T	ENSP00000496928.1:p.Arg253Leu
ENST00000650281.1:c.1421G>T	ENSP00000497000.1:p.Arg474Leu
ENST00000328354.10:c.1421G>T	ENSP00000329178.6:p.Arg474Leu
ENST00000348295.7:c.1334G>T	ENSP00000329012.5:p.Arg445Leu
ENST00000382580.6:c.1550G>T	ENSP00000372023.2:p.Arg517Leu
ENST00000402731.5:c.1334G>T	ENSP00000384835.1:p.Arg445Leu
ENST00000403642.5:c.1148G>T	ENSP00000384919.1:p.Arg383Leu
ENST00000404276.5:c.1421G>T	ENSP00000385747.1:p.Arg474Leu
ENST00000405598.5:c.1421G>T	ENSP00000386087.1:p.Arg474Leu
ENST00000416671.5:c.*911G>T	ENSP00000402225.1:n.*911G>T
ENST00000417588.5:c.1330G>T	ENSP00000412901.1:n.1330G>T
ENST00000433728.5:c.1359G>T	ENSP00000404400.1:n.1359G>T
ENST00000434810.5:c.619G>T
ENST00000448511.5:c.1311G>T	ENSP00000404567.1:n.1311G>T
ENST00000456369.5:c.264-4857G>T
NM_001005735.1:c.1550G>T	NP_001005735.1:p.Arg517Leu
NM_001257387.1:c.758G>T	NP_001244316.1:p.Arg253Leu
NM_007194.3:c.1421G>T	NP_009125.1:p.Arg474Leu
NM_145862.2:c.1334G>T	NP_665861.1:p.Arg445Leu
XM_006724114.2:c.941G>T	XP_006724177.1:p.Arg314Leu
XM_006724116.2:c.878G>T	XP_006724179.2:p.Arg293Leu
XM_011529839.1:c.1580G>T	XP_011528141.1:p.Arg527Leu
XM_011529840.1:c.1493G>T	XP_011528142.1:p.Arg498Leu
XM_011529841.1:c.1349G>T	XP_011528143.1:p.Arg450Leu
XM_011529842.1:c.1250G>T	XP_011528144.1:p.Arg417Leu
XM_011529843.1:c.1220G>T	XP_011528145.1:p.Arg407Leu
XM_011529845.1:c.758G>T	XP_011528147.1:p.Arg253Leu
XR_937805.1:n.1580G>T
NM_001349956.1:c.1220G>T	NP_001336885.1:p.Arg407Leu
NM_007194.4:c.1421G>T MANE Select	NP_009125.1:p.Arg474Leu
XM_006724114.3:c.974G>T	XP_006724177.2:p.Arg325Leu
XM_011529839.2:c.1580G>T	XP_011528141.1:p.Arg527Leu
XM_011529840.3:c.1493G>T	XP_011528142.1:p.Arg498Leu
XM_011529842.2:c.1250G>T	XP_011528144.1:p.Arg417Leu
XM_011529845.2:c.758G>T	XP_011528147.1:p.Arg253Leu
XM_017028560.1:c.1544G>T	XP_016884049.1:p.Arg515Leu
XM_017028561.2:c.758G>T	XP_016884050.1:p.Arg253Leu
XM_024452148.1:c.1451G>T	XP_024307916.1:p.Arg484Leu
XM_024452149.1:c.1364G>T	XP_024307917.1:p.Arg455Leu
XR_937805.2:n.1591G>T
NM_001005735.2:c.1550G>T	NP_001005735.1:p.Arg517Leu
NM_001257387.2:c.758G>T	NP_001244316.1:p.Arg253Leu
NM_001349956.2:c.1220G>T	NP_001336885.1:p.Arg407Leu