Canonical Allele Identifier: CA513944923

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 460780
• ClinVar RCV Id: RCV000540382 ; RCV002350220
• dbSNP Id: rs1060502715
• MyVariant Identifiers: chr22:g.29091805T>C (hg19) ; chr22:g.28695817T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695817T>C , CM000684.2:g.28695817T>C	GRCh38
NC_000022.10:g.29091805T>C , CM000684.1:g.29091805T>C	GRCh37
NC_000022.9:g.27421805T>C	NCBI36
NG_008150.1:g.51018A>G
NG_008150.2:g.51050A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-575A>G	ENSP00000518557.1:n.1009-575A>G
ENST00000402731.6:c.951A>G	ENSP00000384835.2:p.Leu317=
ENST00000404276.6:c.1152A>G MANE Select	ENSP00000385747.1:p.Leu384=
ENST00000425190.7:c.489A>G	ENSP00000390244.2:p.Leu163=
ENST00000464581.6:c.492A>G	ENSP00000483777.2:p.Leu164=
ENST00000648295.1:n.704A>G
ENST00000649563.1:c.489A>G	ENSP00000496928.1:p.Leu163=
ENST00000650281.1:c.1152A>G	ENSP00000497000.1:p.Leu384=
ENST00000328354.10:c.1152A>G	ENSP00000329178.6:p.Leu384=
ENST00000348295.7:c.1065A>G	ENSP00000329012.5:p.Leu355=
ENST00000382580.6:c.1281A>G	ENSP00000372023.2:p.Leu427=
ENST00000402731.5:c.1065A>G	ENSP00000384835.1:p.Leu355=
ENST00000403642.5:c.879A>G	ENSP00000384919.1:p.Leu293=
ENST00000404276.5:c.1152A>G	ENSP00000385747.1:p.Leu384=
ENST00000405598.5:c.1152A>G	ENSP00000386087.1:p.Leu384=
ENST00000416671.5:c.*642A>G	ENSP00000402225.1:n.*642A>G
ENST00000417588.5:c.1061A>G	ENSP00000412901.1:n.1061A>G
ENST00000433728.5:c.1090A>G	ENSP00000404400.1:n.1090A>G
ENST00000434810.5:c.383A>G
ENST00000448511.5:c.1042A>G	ENSP00000404567.1:n.1042A>G
ENST00000456369.5:c.263+4021A>G
NM_001005735.1:c.1281A>G	NP_001005735.1:p.Leu427=
NM_001257387.1:c.489A>G	NP_001244316.1:p.Leu163=
NM_007194.3:c.1152A>G	NP_009125.1:p.Leu384=
NM_145862.2:c.1065A>G	NP_665861.1:p.Leu355=
XM_006724114.2:c.672A>G	XP_006724177.1:p.Leu224=
XM_006724116.2:c.609A>G	XP_006724179.2:p.Leu203=
XM_011529839.1:c.1311A>G	XP_011528141.1:p.Leu437=
XM_011529840.1:c.1224A>G	XP_011528142.1:p.Leu408=
XM_011529841.1:c.1080A>G	XP_011528143.1:p.Leu360=
XM_011529842.1:c.981A>G	XP_011528144.1:p.Leu327=
XM_011529843.1:c.951A>G	XP_011528145.1:p.Leu317=
XM_011529845.1:c.489A>G	XP_011528147.1:p.Leu163=
XR_937805.1:n.1311A>G
XR_937806.1:n.1219A>G
NM_001349956.1:c.951A>G	NP_001336885.1:p.Leu317=
NM_007194.4:c.1152A>G MANE Select	NP_009125.1:p.Leu384=
XM_006724114.3:c.705A>G	XP_006724177.2:p.Leu235=
XM_011529839.2:c.1311A>G	XP_011528141.1:p.Leu437=
XM_011529840.3:c.1224A>G	XP_011528142.1:p.Leu408=
XM_011529842.2:c.981A>G	XP_011528144.1:p.Leu327=
XM_011529845.2:c.489A>G	XP_011528147.1:p.Leu163=
XM_017028560.1:c.1275A>G	XP_016884049.1:p.Leu425=
XM_017028561.2:c.489A>G	XP_016884050.1:p.Leu163=
XM_024452148.1:c.1182A>G	XP_024307916.1:p.Leu394=
XM_024452149.1:c.1095A>G	XP_024307917.1:p.Leu365=
XR_937805.2:n.1322A>G
XR_937806.2:n.1235A>G
NM_001005735.2:c.1281A>G	NP_001005735.1:p.Leu427=
NM_001257387.2:c.489A>G	NP_001244316.1:p.Leu163=
NM_001349956.2:c.951A>G	NP_001336885.1:p.Leu317=