Canonical Allele Identifier: CA513944883

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 1748954
• ClinVar RCV Id: RCV002347354
• dbSNP Id: rs1402419782
• gnomAD v4: 22-28695763-A-G
• MyVariant Identifiers: chr22:g.29091751A>G (hg19) ; chr22:g.28695763A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695763A>G , CM000684.2:g.28695763A>G	GRCh38
NC_000022.10:g.29091751A>G , CM000684.1:g.29091751A>G	GRCh37
NC_000022.9:g.27421751A>G	NCBI36
NG_008150.1:g.51072T>C
NG_008150.2:g.51104T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-521T>C	ENSP00000518557.1:n.1009-521T>C
ENST00000402731.6:c.1005T>C	ENSP00000384835.2:p.Ala335=
ENST00000404276.6:c.1206T>C MANE Select	ENSP00000385747.1:p.Ala402=
ENST00000425190.7:c.543T>C	ENSP00000390244.2:p.Ala181=
ENST00000464581.6:c.546T>C	ENSP00000483777.2:p.Ala182=
ENST00000648295.1:n.758T>C
ENST00000649563.1:c.543T>C	ENSP00000496928.1:p.Ala181=
ENST00000650281.1:c.1206T>C	ENSP00000497000.1:p.Ala402=
ENST00000328354.10:c.1206T>C	ENSP00000329178.6:p.Ala402=
ENST00000348295.7:c.1119T>C	ENSP00000329012.5:p.Ala373=
ENST00000382580.6:c.1335T>C	ENSP00000372023.2:p.Ala445=
ENST00000402731.5:c.1119T>C	ENSP00000384835.1:p.Ala373=
ENST00000403642.5:c.933T>C	ENSP00000384919.1:p.Ala311=
ENST00000404276.5:c.1206T>C	ENSP00000385747.1:p.Ala402=
ENST00000405598.5:c.1206T>C	ENSP00000386087.1:p.Ala402=
ENST00000416671.5:c.*696T>C	ENSP00000402225.1:n.*696T>C
ENST00000417588.5:c.1115T>C	ENSP00000412901.1:n.1115T>C
ENST00000433728.5:c.1144T>C	ENSP00000404400.1:n.1144T>C
ENST00000434810.5:c.437T>C
ENST00000448511.5:c.1096T>C	ENSP00000404567.1:n.1096T>C
ENST00000456369.5:c.263+4075T>C
NM_001005735.1:c.1335T>C	NP_001005735.1:p.Ala445=
NM_001257387.1:c.543T>C	NP_001244316.1:p.Ala181=
NM_007194.3:c.1206T>C	NP_009125.1:p.Ala402=
NM_145862.2:c.1119T>C	NP_665861.1:p.Ala373=
XM_006724114.2:c.726T>C	XP_006724177.1:p.Ala242=
XM_006724116.2:c.663T>C	XP_006724179.2:p.Ala221=
XM_011529839.1:c.1365T>C	XP_011528141.1:p.Ala455=
XM_011529840.1:c.1278T>C	XP_011528142.1:p.Ala426=
XM_011529841.1:c.1134T>C	XP_011528143.1:p.Ala378=
XM_011529842.1:c.1035T>C	XP_011528144.1:p.Ala345=
XM_011529843.1:c.1005T>C	XP_011528145.1:p.Ala335=
XM_011529845.1:c.543T>C	XP_011528147.1:p.Ala181=
XR_937805.1:n.1365T>C
NM_001349956.1:c.1005T>C	NP_001336885.1:p.Ala335=
NM_007194.4:c.1206T>C MANE Select	NP_009125.1:p.Ala402=
XM_006724114.3:c.759T>C	XP_006724177.2:p.Ala253=
XM_011529839.2:c.1365T>C	XP_011528141.1:p.Ala455=
XM_011529840.3:c.1278T>C	XP_011528142.1:p.Ala426=
XM_011529842.2:c.1035T>C	XP_011528144.1:p.Ala345=
XM_011529845.2:c.543T>C	XP_011528147.1:p.Ala181=
XM_017028560.1:c.1329T>C	XP_016884049.1:p.Ala443=
XM_017028561.2:c.543T>C	XP_016884050.1:p.Ala181=
XM_024452148.1:c.1236T>C	XP_024307916.1:p.Ala412=
XM_024452149.1:c.1149T>C	XP_024307917.1:p.Ala383=
XR_937805.2:n.1376T>C
NM_001005735.2:c.1335T>C	NP_001005735.1:p.Ala445=
NM_001257387.2:c.543T>C	NP_001244316.1:p.Ala181=
NM_001349956.2:c.1005T>C	NP_001336885.1:p.Ala335=