Canonical Allele Identifier: CA158102

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 133892
• ClinVar RCV Id: RCV000120559 ; RCV000132487 ; RCV000203747 ; RCV000759042 ; RCV003149830
• dbSNP Id: rs17886163
• ExAC: 22:29091147 A / C
• gnomAD v2: 22-29091147-A-C
• gnomAD v3: 22-28695159-A-C
• gnomAD v4: 22-28695159-A-C
• MyVariant Identifiers: chr22:g.29091147A>C (hg19) ; chr22:g.28695159A>C (hg38)
• PubMed: PMID:21244692 ; PMID:24728327 ; PMID:25980754 ; PMID:26976419 ; PMID:27595995 ; PMID:27978560

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695159A>C , CM000684.2:g.28695159A>C	GRCh38
NC_000022.10:g.29091147A>C , CM000684.1:g.29091147A>C	GRCh37
NC_000022.9:g.27421147A>C	NCBI36
NG_008150.1:g.51676T>G
NG_008150.2:g.51708T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*78T>G	ENSP00000518557.1:n.*78T>G
ENST00000402731.6:c.1142T>G	ENSP00000384835.2:p.Ile381Ser
ENST00000404276.6:c.1343T>G MANE Select	ENSP00000385747.1:p.Ile448Ser
ENST00000425190.7:c.680T>G	ENSP00000390244.2:p.Ile227Ser
ENST00000464581.6:c.683T>G	ENSP00000483777.2:p.Ile228Ser
ENST00000648295.1:n.895T>G
ENST00000649563.1:c.680T>G	ENSP00000496928.1:p.Ile227Ser
ENST00000650281.1:c.1343T>G	ENSP00000497000.1:p.Ile448Ser
ENST00000328354.10:c.1343T>G	ENSP00000329178.6:p.Ile448Ser
ENST00000348295.7:c.1256T>G	ENSP00000329012.5:p.Ile419Ser
ENST00000382580.6:c.1472T>G	ENSP00000372023.2:p.Ile491Ser
ENST00000402731.5:c.1256T>G	ENSP00000384835.1:p.Ile419Ser
ENST00000403642.5:c.1070T>G	ENSP00000384919.1:p.Ile357Ser
ENST00000404276.5:c.1343T>G	ENSP00000385747.1:p.Ile448Ser
ENST00000405598.5:c.1343T>G	ENSP00000386087.1:p.Ile448Ser
ENST00000416671.5:c.*833T>G	ENSP00000402225.1:n.*833T>G
ENST00000417588.5:c.1252T>G	ENSP00000412901.1:n.1252T>G
ENST00000433728.5:c.1281T>G	ENSP00000404400.1:n.1281T>G
ENST00000434810.5:c.541T>G
ENST00000448511.5:c.1233T>G	ENSP00000404567.1:n.1233T>G
ENST00000456369.5:c.263+4679T>G
NM_001005735.1:c.1472T>G	NP_001005735.1:p.Ile491Ser
NM_001257387.1:c.680T>G	NP_001244316.1:p.Ile227Ser
NM_007194.3:c.1343T>G	NP_009125.1:p.Ile448Ser
NM_145862.2:c.1256T>G	NP_665861.1:p.Ile419Ser
XM_006724114.2:c.863T>G	XP_006724177.1:p.Ile288Ser
XM_006724116.2:c.800T>G	XP_006724179.2:p.Ile267Ser
XM_011529839.1:c.1502T>G	XP_011528141.1:p.Ile501Ser
XM_011529840.1:c.1415T>G	XP_011528142.1:p.Ile472Ser
XM_011529841.1:c.1271T>G	XP_011528143.1:p.Ile424Ser
XM_011529842.1:c.1172T>G	XP_011528144.1:p.Ile391Ser
XM_011529843.1:c.1142T>G	XP_011528145.1:p.Ile381Ser
XM_011529845.1:c.680T>G	XP_011528147.1:p.Ile227Ser
XR_937805.1:n.1502T>G
NM_001349956.1:c.1142T>G	NP_001336885.1:p.Ile381Ser
NM_007194.4:c.1343T>G MANE Select	NP_009125.1:p.Ile448Ser
XM_006724114.3:c.896T>G	XP_006724177.2:p.Ile299Ser
XM_011529839.2:c.1502T>G	XP_011528141.1:p.Ile501Ser
XM_011529840.3:c.1415T>G	XP_011528142.1:p.Ile472Ser
XM_011529842.2:c.1172T>G	XP_011528144.1:p.Ile391Ser
XM_011529845.2:c.680T>G	XP_011528147.1:p.Ile227Ser
XM_017028560.1:c.1466T>G	XP_016884049.1:p.Ile489Ser
XM_017028561.2:c.680T>G	XP_016884050.1:p.Ile227Ser
XM_024452148.1:c.1373T>G	XP_024307916.1:p.Ile458Ser
XM_024452149.1:c.1286T>G	XP_024307917.1:p.Ile429Ser
XR_937805.2:n.1513T>G
NM_001005735.2:c.1472T>G	NP_001005735.1:p.Ile491Ser
NM_001257387.2:c.680T>G	NP_001244316.1:p.Ile227Ser
NM_001349956.2:c.1142T>G	NP_001336885.1:p.Ile381Ser