Canonical Allele Identifier: CA294015

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 140959
• ClinVar RCV Id: RCV000129242 ; RCV000227000 ; RCV000212452 ; RCV000764375 ; RCV001354869 ; RCV000781303
• dbSNP Id: rs375130261
• ExAC: 22:29091816 T / C
• gnomAD v2: 22-29091816-T-C
• gnomAD v3: 22-28695828-T-C
• gnomAD v4: 22-28695828-T-C
• COSMIC: COSM1559601
• MyVariant Identifiers: chr22:g.29091816T>C (hg19) ; chr22:g.29091816_29091818delinsCGA (hg19) ; chr22:g.28695828T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695828T>C , CM000684.2:g.28695828T>C	GRCh38
NC_000022.10:g.29091816T>C , CM000684.1:g.29091816T>C	GRCh37
NC_000022.9:g.27421816T>C	NCBI36
NG_008150.1:g.51007A>G
NG_008150.2:g.51039A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-586A>G	ENSP00000518557.1:n.1009-586A>G
ENST00000402731.6:c.940A>G	ENSP00000384835.2:p.Met314Val
ENST00000404276.6:c.1141A>G MANE Select	ENSP00000385747.1:p.Met381Val
ENST00000425190.7:c.478A>G	ENSP00000390244.2:p.Met160Val
ENST00000464581.6:c.481A>G	ENSP00000483777.2:p.Met161Val
ENST00000648295.1:n.693A>G
ENST00000649563.1:c.478A>G	ENSP00000496928.1:p.Met160Val
ENST00000650281.1:c.1141A>G	ENSP00000497000.1:p.Met381Val
ENST00000328354.10:c.1141A>G	ENSP00000329178.6:p.Met381Val
ENST00000348295.7:c.1054A>G	ENSP00000329012.5:p.Met352Val
ENST00000382580.6:c.1270A>G	ENSP00000372023.2:p.Met424Val
ENST00000402731.5:c.1054A>G	ENSP00000384835.1:p.Met352Val
ENST00000403642.5:c.868A>G	ENSP00000384919.1:p.Met290Val
ENST00000404276.5:c.1141A>G	ENSP00000385747.1:p.Met381Val
ENST00000405598.5:c.1141A>G	ENSP00000386087.1:p.Met381Val
ENST00000416671.5:c.*631A>G	ENSP00000402225.1:n.*631A>G
ENST00000417588.5:c.1050A>G	ENSP00000412901.1:n.1050A>G
ENST00000433728.5:c.1079A>G	ENSP00000404400.1:n.1079A>G
ENST00000434810.5:c.372A>G
ENST00000448511.5:c.1031A>G	ENSP00000404567.1:n.1031A>G
ENST00000456369.5:c.263+4010A>G
NM_001005735.1:c.1270A>G	NP_001005735.1:p.Met424Val
NM_001257387.1:c.478A>G	NP_001244316.1:p.Met160Val
NM_007194.3:c.1141A>G	NP_009125.1:p.Met381Val
NM_145862.2:c.1054A>G	NP_665861.1:p.Met352Val
XM_006724114.2:c.661A>G	XP_006724177.1:p.Met221Val
XM_006724116.2:c.598A>G	XP_006724179.2:p.Met200Val
XM_011529839.1:c.1300A>G	XP_011528141.1:p.Met434Val
XM_011529840.1:c.1213A>G	XP_011528142.1:p.Met405Val
XM_011529841.1:c.1069A>G	XP_011528143.1:p.Met357Val
XM_011529842.1:c.970A>G	XP_011528144.1:p.Met324Val
XM_011529843.1:c.940A>G	XP_011528145.1:p.Met314Val
XM_011529845.1:c.478A>G	XP_011528147.1:p.Met160Val
XR_937805.1:n.1300A>G
XR_937806.1:n.1208A>G
NM_001349956.1:c.940A>G	NP_001336885.1:p.Met314Val
NM_007194.4:c.1141A>G MANE Select	NP_009125.1:p.Met381Val
XM_006724114.3:c.694A>G	XP_006724177.2:p.Met232Val
XM_011529839.2:c.1300A>G	XP_011528141.1:p.Met434Val
XM_011529840.3:c.1213A>G	XP_011528142.1:p.Met405Val
XM_011529842.2:c.970A>G	XP_011528144.1:p.Met324Val
XM_011529845.2:c.478A>G	XP_011528147.1:p.Met160Val
XM_017028560.1:c.1264A>G	XP_016884049.1:p.Met422Val
XM_017028561.2:c.478A>G	XP_016884050.1:p.Met160Val
XM_024452148.1:c.1171A>G	XP_024307916.1:p.Met391Val
XM_024452149.1:c.1084A>G	XP_024307917.1:p.Met362Val
XR_937805.2:n.1311A>G
XR_937806.2:n.1224A>G
NM_001005735.2:c.1270A>G	NP_001005735.1:p.Met424Val
NM_001257387.2:c.478A>G	NP_001244316.1:p.Met160Val
NM_001349956.2:c.940A>G	NP_001336885.1:p.Met314Val