Canonical Allele Identifier: CA230676

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 126900
• ClinVar RCV Id: RCV000114754 ; RCV000546556 ; RCV001025721
• dbSNP Id: rs121908695
• gnomAD v3: 22-28712021-G-C
• gnomAD v4: 22-28712021-G-C
• MyVariant Identifiers: chr22:g.29108009G>C (hg19) ; chr22:g.28712021G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28712021G>C , CM000684.2:g.28712021G>C	GRCh38
NC_000022.10:g.29108009G>C , CM000684.1:g.29108009G>C	GRCh37
NC_000022.9:g.27438009G>C	NCBI36
NG_008150.1:g.34814C>G
NG_008150.2:g.34846C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.593-4C>G	ENSP00000396903.2:n.593-4C>G
ENST00000711048.1:c.684-4C>G	ENSP00000518557.1:n.684-4C>G
ENST00000402731.6:c.483-4C>G	ENSP00000384835.2:n.483-4C>G
ENST00000404276.6:c.684-4C>G MANE Select	ENSP00000385747.1:n.684-4C>G
ENST00000425190.7:c.21-4C>G	ENSP00000390244.2:n.21-4C>G
ENST00000464581.6:c.24-4C>G	ENSP00000483777.2:n.24-4C>G
ENST00000648295.1:n.236-4C>G
ENST00000649563.1:c.21-4C>G	ENSP00000496928.1:n.21-4C>G
ENST00000650281.1:c.684-4C>G	ENSP00000497000.1:n.684-4C>G
ENST00000328354.10:c.684-4C>G	ENSP00000329178.6:n.684-4C>G
ENST00000348295.7:c.684-4C>G	ENSP00000329012.5:n.684-4C>G
ENST00000382580.6:c.813-4C>G	ENSP00000372023.2:n.813-4C>G
ENST00000402731.5:c.684-4C>G	ENSP00000384835.1:n.684-4C>G
ENST00000403642.5:c.411-4C>G	ENSP00000384919.1:n.411-4C>G
ENST00000404276.5:c.684-4C>G	ENSP00000385747.1:n.684-4C>G
ENST00000405598.5:c.684-4C>G	ENSP00000386087.1:n.684-4C>G
ENST00000416671.5:c.*174-4C>G	ENSP00000402225.1:n.*174-4C>G
ENST00000417588.5:c.593-4C>G	ENSP00000412901.1:n.593-4C>G
ENST00000425190.6:c.21-4C>G	ENSP00000390244.1:n.21-4C>G
ENST00000433028.6:c.*409-4C>G	ENSP00000403659.1:n.*409-4C>G
ENST00000433728.5:c.684-4C>G	ENSP00000404400.1:n.684-4C>G
ENST00000439200.5:c.777-4C>G	ENSP00000408065.1:n.777-4C>G
ENST00000439346.5:c.155-4C>G	ENSP00000396903.1:n.155-4C>G
ENST00000447421.5:c.483-4C>G	ENSP00000397478.2:n.483-4C>G
ENST00000448511.5:c.574-4C>G	ENSP00000404567.1:n.574-4C>G
ENST00000464581.5:c.24-4C>G	ENSP00000483777.1:n.24-4C>G
ENST00000491919.5:n.237C>G
NM_001005735.1:c.813-4C>G	NP_001005735.1:n.813-4C>G
NM_001257387.1:c.21-4C>G	NP_001244316.1:n.21-4C>G
NM_007194.3:c.684-4C>G	NP_009125.1:n.684-4C>G
NM_145862.2:c.684-4C>G	NP_665861.1:n.684-4C>G
XM_006724114.2:c.204-4C>G	XP_006724177.1:n.204-4C>G
XM_006724116.2:c.141-4C>G	XP_006724179.2:n.141-4C>G
XM_011529839.1:c.843-4C>G	XP_011528141.1:n.843-4C>G
XM_011529840.1:c.843-4C>G	XP_011528142.1:n.843-4C>G
XM_011529841.1:c.612-4C>G	XP_011528143.1:n.612-4C>G
XM_011529842.1:c.513-4C>G	XP_011528144.1:n.513-4C>G
XM_011529843.1:c.483-4C>G	XP_011528145.1:n.483-4C>G
XM_011529844.1:c.843-4C>G	XP_011528146.1:n.843-4C>G
XM_011529845.1:c.21-4C>G	XP_011528147.1:n.21-4C>G
XR_937805.1:n.905-4C>G
XR_937806.1:n.900-4C>G
XR_937807.1:n.900-4C>G
NM_001349956.1:c.483-4C>G	NP_001336885.1:n.483-4C>G
NM_007194.4:c.684-4C>G MANE Select	NP_009125.1:n.684-4C>G
XM_006724114.3:c.237-4C>G	XP_006724177.2:n.237-4C>G
XM_011529839.2:c.843-4C>G	XP_011528141.1:n.843-4C>G
XM_011529840.3:c.843-4C>G	XP_011528142.1:n.843-4C>G
XM_011529842.2:c.513-4C>G	XP_011528144.1:n.513-4C>G
XM_011529844.2:c.843-4C>G	XP_011528146.1:n.843-4C>G
XM_011529845.2:c.21-4C>G	XP_011528147.1:n.21-4C>G
XM_017028560.1:c.807-4C>G	XP_016884049.1:n.807-4C>G
XM_017028561.2:c.21-4C>G	XP_016884050.1:n.21-4C>G
XM_024452148.1:c.714-4C>G	XP_024307916.1:n.714-4C>G
XM_024452149.1:c.714-4C>G	XP_024307917.1:n.714-4C>G
XR_937805.2:n.916-4C>G
XR_937806.2:n.916-4C>G
XR_937807.2:n.916-4C>G
NM_001005735.2:c.813-4C>G	NP_001005735.1:n.813-4C>G
NM_001257387.2:c.21-4C>G	NP_001244316.1:n.21-4C>G
NM_001349956.2:c.483-4C>G	NP_001336885.1:n.483-4C>G