Canonical Allele Identifier: CA10581033

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 232039
• ClinVar RCV Id: RCV000213274 ; RCV000798916 ; RCV003159113
• dbSNP Id: rs876659512
• gnomAD v2: 22-29090103-G-C
• gnomAD v4: 22-28694115-G-C
• MyVariant Identifiers: chr22:g.29090103G>C (hg19) ; chr22:g.28694115G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694115G>C , CM000684.2:g.28694115G>C	GRCh38
NC_000022.10:g.29090103G>C , CM000684.1:g.29090103G>C	GRCh37
NC_000022.9:g.27420103G>C	NCBI36
NG_008150.1:g.52720C>G
NG_008150.2:g.52752C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*113C>G	ENSP00000518557.1:n.*113C>G
ENST00000402731.6:c.1177C>G	ENSP00000384835.2:p.Leu393Val
ENST00000404276.6:c.1378C>G MANE Select	ENSP00000385747.1:p.Leu460Val
ENST00000425190.7:c.715C>G	ENSP00000390244.2:p.Leu239Val
ENST00000464581.6:c.718C>G	ENSP00000483777.2:p.Leu240Val
ENST00000648295.1:n.930C>G
ENST00000649563.1:c.715C>G	ENSP00000496928.1:p.Leu239Val
ENST00000650281.1:c.1378C>G	ENSP00000497000.1:p.Leu460Val
ENST00000328354.10:c.1378C>G	ENSP00000329178.6:p.Leu460Val
ENST00000348295.7:c.1291C>G	ENSP00000329012.5:p.Leu431Val
ENST00000382580.6:c.1507C>G	ENSP00000372023.2:p.Leu503Val
ENST00000402731.5:c.1291C>G	ENSP00000384835.1:p.Leu431Val
ENST00000403642.5:c.1105C>G	ENSP00000384919.1:p.Leu369Val
ENST00000404276.5:c.1378C>G	ENSP00000385747.1:p.Leu460Val
ENST00000405598.5:c.1378C>G	ENSP00000386087.1:p.Leu460Val
ENST00000416671.5:c.*868C>G	ENSP00000402225.1:n.*868C>G
ENST00000417588.5:c.1287C>G	ENSP00000412901.1:n.1287C>G
ENST00000433728.5:c.1316C>G	ENSP00000404400.1:n.1316C>G
ENST00000434810.5:c.576C>G
ENST00000448511.5:c.1268C>G	ENSP00000404567.1:n.1268C>G
ENST00000456369.5:c.264-4900C>G
NM_001005735.1:c.1507C>G	NP_001005735.1:p.Leu503Val
NM_001257387.1:c.715C>G	NP_001244316.1:p.Leu239Val
NM_007194.3:c.1378C>G	NP_009125.1:p.Leu460Val
NM_145862.2:c.1291C>G	NP_665861.1:p.Leu431Val
XM_006724114.2:c.898C>G	XP_006724177.1:p.Leu300Val
XM_006724116.2:c.835C>G	XP_006724179.2:p.Leu279Val
XM_011529839.1:c.1537C>G	XP_011528141.1:p.Leu513Val
XM_011529840.1:c.1450C>G	XP_011528142.1:p.Leu484Val
XM_011529841.1:c.1306C>G	XP_011528143.1:p.Leu436Val
XM_011529842.1:c.1207C>G	XP_011528144.1:p.Leu403Val
XM_011529843.1:c.1177C>G	XP_011528145.1:p.Leu393Val
XM_011529845.1:c.715C>G	XP_011528147.1:p.Leu239Val
XR_937805.1:n.1537C>G
NM_001349956.1:c.1177C>G	NP_001336885.1:p.Leu393Val
NM_007194.4:c.1378C>G MANE Select	NP_009125.1:p.Leu460Val
XM_006724114.3:c.931C>G	XP_006724177.2:p.Leu311Val
XM_011529839.2:c.1537C>G	XP_011528141.1:p.Leu513Val
XM_011529840.3:c.1450C>G	XP_011528142.1:p.Leu484Val
XM_011529842.2:c.1207C>G	XP_011528144.1:p.Leu403Val
XM_011529845.2:c.715C>G	XP_011528147.1:p.Leu239Val
XM_017028560.1:c.1501C>G	XP_016884049.1:p.Leu501Val
XM_017028561.2:c.715C>G	XP_016884050.1:p.Leu239Val
XM_024452148.1:c.1408C>G	XP_024307916.1:p.Leu470Val
XM_024452149.1:c.1321C>G	XP_024307917.1:p.Leu441Val
XR_937805.2:n.1548C>G
NM_001005735.2:c.1507C>G	NP_001005735.1:p.Leu503Val
NM_001257387.2:c.715C>G	NP_001244316.1:p.Leu239Val
NM_001349956.2:c.1177C>G	NP_001336885.1:p.Leu393Val