Canonical Allele Identifier: CA10581034

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 231667
• ClinVar RCV Id: RCV000217905 ; RCV001230274
• dbSNP Id: rs876659287
• MyVariant Identifiers: chr22:g.29090106C>T (hg19) ; chr22:g.28694118C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694118C>T , CM000684.2:g.28694118C>T	GRCh38
NC_000022.10:g.29090106C>T , CM000684.1:g.29090106C>T	GRCh37
NC_000022.9:g.27420106C>T	NCBI36
NG_008150.1:g.52717G>A
NG_008150.2:g.52749G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*111-1G>A	ENSP00000518557.1:n.*111-1G>A
ENST00000402731.6:c.1175-1G>A	ENSP00000384835.2:n.1175-1G>A
ENST00000404276.6:c.1376-1G>A MANE Select	ENSP00000385747.1:n.1376-1G>A
ENST00000425190.7:c.713-1G>A	ENSP00000390244.2:n.713-1G>A
ENST00000464581.6:c.716-1G>A	ENSP00000483777.2:n.716-1G>A
ENST00000648295.1:n.928-1G>A
ENST00000649563.1:c.713-1G>A	ENSP00000496928.1:n.713-1G>A
ENST00000650281.1:c.1376-1G>A	ENSP00000497000.1:n.1376-1G>A
ENST00000328354.10:c.1376-1G>A	ENSP00000329178.6:n.1376-1G>A
ENST00000348295.7:c.1289-1G>A	ENSP00000329012.5:n.1289-1G>A
ENST00000382580.6:c.1505-1G>A	ENSP00000372023.2:n.1505-1G>A
ENST00000402731.5:c.1289-1G>A	ENSP00000384835.1:n.1289-1G>A
ENST00000403642.5:c.1103-1G>A	ENSP00000384919.1:n.1103-1G>A
ENST00000404276.5:c.1376-1G>A	ENSP00000385747.1:n.1376-1G>A
ENST00000405598.5:c.1376-1G>A	ENSP00000386087.1:n.1376-1G>A
ENST00000416671.5:c.*866-1G>A	ENSP00000402225.1:n.*866-1G>A
ENST00000417588.5:c.1285-1G>A	ENSP00000412901.1:n.1285-1G>A
ENST00000433728.5:c.1314-1G>A	ENSP00000404400.1:n.1314-1G>A
ENST00000434810.5:c.574-1G>A
ENST00000448511.5:c.1266-1G>A	ENSP00000404567.1:n.1266-1G>A
ENST00000456369.5:c.264-4903G>A
NM_001005735.1:c.1505-1G>A	NP_001005735.1:n.1505-1G>A
NM_001257387.1:c.713-1G>A	NP_001244316.1:n.713-1G>A
NM_007194.3:c.1376-1G>A	NP_009125.1:n.1376-1G>A
NM_145862.2:c.1289-1G>A	NP_665861.1:n.1289-1G>A
XM_006724114.2:c.896-1G>A	XP_006724177.1:n.896-1G>A
XM_006724116.2:c.833-1G>A	XP_006724179.2:n.833-1G>A
XM_011529839.1:c.1535-1G>A	XP_011528141.1:n.1535-1G>A
XM_011529840.1:c.1448-1G>A	XP_011528142.1:n.1448-1G>A
XM_011529841.1:c.1304-1G>A	XP_011528143.1:n.1304-1G>A
XM_011529842.1:c.1205-1G>A	XP_011528144.1:n.1205-1G>A
XM_011529843.1:c.1175-1G>A	XP_011528145.1:n.1175-1G>A
XM_011529845.1:c.713-1G>A	XP_011528147.1:n.713-1G>A
XR_937805.1:n.1535-1G>A
NM_001349956.1:c.1175-1G>A	NP_001336885.1:n.1175-1G>A
NM_007194.4:c.1376-1G>A MANE Select	NP_009125.1:n.1376-1G>A
XM_006724114.3:c.929-1G>A	XP_006724177.2:n.929-1G>A
XM_011529839.2:c.1535-1G>A	XP_011528141.1:n.1535-1G>A
XM_011529840.3:c.1448-1G>A	XP_011528142.1:n.1448-1G>A
XM_011529842.2:c.1205-1G>A	XP_011528144.1:n.1205-1G>A
XM_011529845.2:c.713-1G>A	XP_011528147.1:n.713-1G>A
XM_017028560.1:c.1499-1G>A	XP_016884049.1:n.1499-1G>A
XM_017028561.2:c.713-1G>A	XP_016884050.1:n.713-1G>A
XM_024452148.1:c.1406-1G>A	XP_024307916.1:n.1406-1G>A
XM_024452149.1:c.1319-1G>A	XP_024307917.1:n.1319-1G>A
XR_937805.2:n.1546-1G>A
NM_001005735.2:c.1505-1G>A	NP_001005735.1:n.1505-1G>A
NM_001257387.2:c.713-1G>A	NP_001244316.1:n.713-1G>A
NM_001349956.2:c.1175-1G>A	NP_001336885.1:n.1175-1G>A