Canonical Allele Identifier: CA411096899

Gene: CHEK2

Linked Data

• gnomAD v4: 22-28695818-A-G
• MyVariant Identifiers: chr22:g.29091806A>G (hg19) ; chr22:g.28695818A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695818A>G , CM000684.2:g.28695818A>G	GRCh38
NC_000022.10:g.29091806A>G , CM000684.1:g.29091806A>G	GRCh37
NC_000022.9:g.27421806A>G	NCBI36
NG_008150.1:g.51017T>C
NG_008150.2:g.51049T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-576T>C	ENSP00000518557.1:n.1009-576T>C
ENST00000402731.6:c.950T>C	ENSP00000384835.2:p.Leu317Ser
ENST00000404276.6:c.1151T>C MANE Select	ENSP00000385747.1:p.Leu384Ser
ENST00000425190.7:c.488T>C	ENSP00000390244.2:p.Leu163Ser
ENST00000464581.6:c.491T>C	ENSP00000483777.2:p.Leu164Ser
ENST00000648295.1:n.703T>C
ENST00000649563.1:c.488T>C	ENSP00000496928.1:p.Leu163Ser
ENST00000650281.1:c.1151T>C	ENSP00000497000.1:p.Leu384Ser
ENST00000328354.10:c.1151T>C	ENSP00000329178.6:p.Leu384Ser
ENST00000348295.7:c.1064T>C	ENSP00000329012.5:p.Leu355Ser
ENST00000382580.6:c.1280T>C	ENSP00000372023.2:p.Leu427Ser
ENST00000402731.5:c.1064T>C	ENSP00000384835.1:p.Leu355Ser
ENST00000403642.5:c.878T>C	ENSP00000384919.1:p.Leu293Ser
ENST00000404276.5:c.1151T>C	ENSP00000385747.1:p.Leu384Ser
ENST00000405598.5:c.1151T>C	ENSP00000386087.1:p.Leu384Ser
ENST00000416671.5:c.*641T>C	ENSP00000402225.1:n.*641T>C
ENST00000417588.5:c.1060T>C	ENSP00000412901.1:n.1060T>C
ENST00000433728.5:c.1089T>C	ENSP00000404400.1:n.1089T>C
ENST00000434810.5:c.382T>C
ENST00000448511.5:c.1041T>C	ENSP00000404567.1:n.1041T>C
ENST00000456369.5:c.263+4020T>C
NM_001005735.1:c.1280T>C	NP_001005735.1:p.Leu427Ser
NM_001257387.1:c.488T>C	NP_001244316.1:p.Leu163Ser
NM_007194.3:c.1151T>C	NP_009125.1:p.Leu384Ser
NM_145862.2:c.1064T>C	NP_665861.1:p.Leu355Ser
XM_006724114.2:c.671T>C	XP_006724177.1:p.Leu224Ser
XM_006724116.2:c.608T>C	XP_006724179.2:p.Leu203Ser
XM_011529839.1:c.1310T>C	XP_011528141.1:p.Leu437Ser
XM_011529840.1:c.1223T>C	XP_011528142.1:p.Leu408Ser
XM_011529841.1:c.1079T>C	XP_011528143.1:p.Leu360Ser
XM_011529842.1:c.980T>C	XP_011528144.1:p.Leu327Ser
XM_011529843.1:c.950T>C	XP_011528145.1:p.Leu317Ser
XM_011529845.1:c.488T>C	XP_011528147.1:p.Leu163Ser
XR_937805.1:n.1310T>C
XR_937806.1:n.1218T>C
NM_001349956.1:c.950T>C	NP_001336885.1:p.Leu317Ser
NM_007194.4:c.1151T>C MANE Select	NP_009125.1:p.Leu384Ser
XM_006724114.3:c.704T>C	XP_006724177.2:p.Leu235Ser
XM_011529839.2:c.1310T>C	XP_011528141.1:p.Leu437Ser
XM_011529840.3:c.1223T>C	XP_011528142.1:p.Leu408Ser
XM_011529842.2:c.980T>C	XP_011528144.1:p.Leu327Ser
XM_011529845.2:c.488T>C	XP_011528147.1:p.Leu163Ser
XM_017028560.1:c.1274T>C	XP_016884049.1:p.Leu425Ser
XM_017028561.2:c.488T>C	XP_016884050.1:p.Leu163Ser
XM_024452148.1:c.1181T>C	XP_024307916.1:p.Leu394Ser
XM_024452149.1:c.1094T>C	XP_024307917.1:p.Leu365Ser
XR_937805.2:n.1321T>C
XR_937806.2:n.1234T>C
NM_001005735.2:c.1280T>C	NP_001005735.1:p.Leu427Ser
NM_001257387.2:c.488T>C	NP_001244316.1:p.Leu163Ser
NM_001349956.2:c.950T>C	NP_001336885.1:p.Leu317Ser