Canonical Allele Identifier: CA411096907

Gene: CHEK2

Linked Data

• dbSNP Id: rs2052561266
• MyVariant Identifiers: chr22:g.29091807A>T (hg19) ; chr22:g.28695819A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695819A>T , CM000684.2:g.28695819A>T	GRCh38
NC_000022.10:g.29091807A>T , CM000684.1:g.29091807A>T	GRCh37
NC_000022.9:g.27421807A>T	NCBI36
NG_008150.1:g.51016T>A
NG_008150.2:g.51048T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-577T>A	ENSP00000518557.1:n.1009-577T>A
ENST00000402731.6:c.949T>A	ENSP00000384835.2:p.Leu317Ile
ENST00000404276.6:c.1150T>A MANE Select	ENSP00000385747.1:p.Leu384Ile
ENST00000425190.7:c.487T>A	ENSP00000390244.2:p.Leu163Ile
ENST00000464581.6:c.490T>A	ENSP00000483777.2:p.Leu164Ile
ENST00000648295.1:n.702T>A
ENST00000649563.1:c.487T>A	ENSP00000496928.1:p.Leu163Ile
ENST00000650281.1:c.1150T>A	ENSP00000497000.1:p.Leu384Ile
ENST00000328354.10:c.1150T>A	ENSP00000329178.6:p.Leu384Ile
ENST00000348295.7:c.1063T>A	ENSP00000329012.5:p.Leu355Ile
ENST00000382580.6:c.1279T>A	ENSP00000372023.2:p.Leu427Ile
ENST00000402731.5:c.1063T>A	ENSP00000384835.1:p.Leu355Ile
ENST00000403642.5:c.877T>A	ENSP00000384919.1:p.Leu293Ile
ENST00000404276.5:c.1150T>A	ENSP00000385747.1:p.Leu384Ile
ENST00000405598.5:c.1150T>A	ENSP00000386087.1:p.Leu384Ile
ENST00000416671.5:c.*640T>A	ENSP00000402225.1:n.*640T>A
ENST00000417588.5:c.1059T>A	ENSP00000412901.1:n.1059T>A
ENST00000433728.5:c.1088T>A	ENSP00000404400.1:n.1088T>A
ENST00000434810.5:c.381T>A
ENST00000448511.5:c.1040T>A	ENSP00000404567.1:n.1040T>A
ENST00000456369.5:c.263+4019T>A
NM_001005735.1:c.1279T>A	NP_001005735.1:p.Leu427Ile
NM_001257387.1:c.487T>A	NP_001244316.1:p.Leu163Ile
NM_007194.3:c.1150T>A	NP_009125.1:p.Leu384Ile
NM_145862.2:c.1063T>A	NP_665861.1:p.Leu355Ile
XM_006724114.2:c.670T>A	XP_006724177.1:p.Leu224Ile
XM_006724116.2:c.607T>A	XP_006724179.2:p.Leu203Ile
XM_011529839.1:c.1309T>A	XP_011528141.1:p.Leu437Ile
XM_011529840.1:c.1222T>A	XP_011528142.1:p.Leu408Ile
XM_011529841.1:c.1078T>A	XP_011528143.1:p.Leu360Ile
XM_011529842.1:c.979T>A	XP_011528144.1:p.Leu327Ile
XM_011529843.1:c.949T>A	XP_011528145.1:p.Leu317Ile
XM_011529845.1:c.487T>A	XP_011528147.1:p.Leu163Ile
XR_937805.1:n.1309T>A
XR_937806.1:n.1217T>A
NM_001349956.1:c.949T>A	NP_001336885.1:p.Leu317Ile
NM_007194.4:c.1150T>A MANE Select	NP_009125.1:p.Leu384Ile
XM_006724114.3:c.703T>A	XP_006724177.2:p.Leu235Ile
XM_011529839.2:c.1309T>A	XP_011528141.1:p.Leu437Ile
XM_011529840.3:c.1222T>A	XP_011528142.1:p.Leu408Ile
XM_011529842.2:c.979T>A	XP_011528144.1:p.Leu327Ile
XM_011529845.2:c.487T>A	XP_011528147.1:p.Leu163Ile
XM_017028560.1:c.1273T>A	XP_016884049.1:p.Leu425Ile
XM_017028561.2:c.487T>A	XP_016884050.1:p.Leu163Ile
XM_024452148.1:c.1180T>A	XP_024307916.1:p.Leu394Ile
XM_024452149.1:c.1093T>A	XP_024307917.1:p.Leu365Ile
XR_937805.2:n.1320T>A
XR_937806.2:n.1233T>A
NM_001005735.2:c.1279T>A	NP_001005735.1:p.Leu427Ile
NM_001257387.2:c.487T>A	NP_001244316.1:p.Leu163Ile
NM_001349956.2:c.949T>A	NP_001336885.1:p.Leu317Ile