Canonical Allele Identifier: CA323006457

Gene: CHEK2

Linked Data

• dbSNP Id: rs1022117219
• gnomAD v3: 22-28696638-T-C
• gnomAD v4: 22-28696638-T-C
• MyVariant Identifiers: chr22:g.29092626T>C (hg19) ; chr22:g.28696638T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696638T>C , CM000684.2:g.28696638T>C	GRCh38
NC_000022.10:g.29092626T>C , CM000684.1:g.29092626T>C	GRCh37
NC_000022.9:g.27422626T>C	NCBI36
NG_008150.1:g.50197A>G
NG_008150.2:g.50229A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1396A>G	ENSP00000518557.1:n.1009-1396A>G
ENST00000402731.6:c.894+263A>G	ENSP00000384835.2:n.894+263A>G
ENST00000404276.6:c.1095+263A>G MANE Select	ENSP00000385747.1:n.1095+263A>G
ENST00000425190.7:c.432+263A>G	ENSP00000390244.2:n.432+263A>G
ENST00000464581.6:c.435+263A>G	ENSP00000483777.2:n.435+263A>G
ENST00000648295.1:n.647+263A>G
ENST00000649563.1:c.432+263A>G	ENSP00000496928.1:n.432+263A>G
ENST00000650281.1:c.1095+263A>G	ENSP00000497000.1:n.1095+263A>G
ENST00000328354.10:c.1095+263A>G	ENSP00000329178.6:n.1095+263A>G
ENST00000348295.7:c.1009-765A>G	ENSP00000329012.5:n.1009-765A>G
ENST00000382580.6:c.1224+263A>G	ENSP00000372023.2:n.1224+263A>G
ENST00000402731.5:c.1009-765A>G	ENSP00000384835.1:n.1009-765A>G
ENST00000403642.5:c.822+263A>G	ENSP00000384919.1:n.822+263A>G
ENST00000404276.5:c.1095+263A>G	ENSP00000385747.1:n.1095+263A>G
ENST00000405598.5:c.1095+263A>G	ENSP00000386087.1:n.1095+263A>G
ENST00000416671.5:c.*585+263A>G	ENSP00000402225.1:n.*585+263A>G
ENST00000417588.5:c.1004+263A>G	ENSP00000412901.1:n.1004+263A>G
ENST00000433728.5:c.1033+263A>G	ENSP00000404400.1:n.1033+263A>G
ENST00000434810.5:c.326+263A>G
ENST00000448511.5:c.985+263A>G	ENSP00000404567.1:n.985+263A>G
ENST00000456369.5:c.263+3200A>G
NM_001005735.1:c.1224+263A>G	NP_001005735.1:n.1224+263A>G
NM_001257387.1:c.432+263A>G	NP_001244316.1:n.432+263A>G
NM_007194.3:c.1095+263A>G	NP_009125.1:n.1095+263A>G
NM_145862.2:c.1009-765A>G	NP_665861.1:n.1009-765A>G
XM_006724114.2:c.615+263A>G	XP_006724177.1:n.615+263A>G
XM_006724116.2:c.552+263A>G	XP_006724179.2:n.552+263A>G
XM_011529839.1:c.1254+263A>G	XP_011528141.1:n.1254+263A>G
XM_011529840.1:c.1168-765A>G	XP_011528142.1:n.1168-765A>G
XM_011529841.1:c.1023+263A>G	XP_011528143.1:n.1023+263A>G
XM_011529842.1:c.924+263A>G	XP_011528144.1:n.924+263A>G
XM_011529843.1:c.894+263A>G	XP_011528145.1:n.894+263A>G
XM_011529845.1:c.432+263A>G	XP_011528147.1:n.432+263A>G
XR_937805.1:n.1254+263A>G
XR_937806.1:n.1163-765A>G
NM_001349956.1:c.894+263A>G	NP_001336885.1:n.894+263A>G
NM_007194.4:c.1095+263A>G MANE Select	NP_009125.1:n.1095+263A>G
XM_006724114.3:c.648+263A>G	XP_006724177.2:n.648+263A>G
XM_011529839.2:c.1254+263A>G	XP_011528141.1:n.1254+263A>G
XM_011529840.3:c.1168-765A>G	XP_011528142.1:n.1168-765A>G
XM_011529842.2:c.924+263A>G	XP_011528144.1:n.924+263A>G
XM_011529845.2:c.432+263A>G	XP_011528147.1:n.432+263A>G
XM_017028560.1:c.1218+263A>G	XP_016884049.1:n.1218+263A>G
XM_017028561.2:c.432+263A>G	XP_016884050.1:n.432+263A>G
XM_024452148.1:c.1125+263A>G	XP_024307916.1:n.1125+263A>G
XM_024452149.1:c.1039-765A>G	XP_024307917.1:n.1039-765A>G
XR_937805.2:n.1265+263A>G
XR_937806.2:n.1179-765A>G
NM_001005735.2:c.1224+263A>G	NP_001005735.1:n.1224+263A>G
NM_001257387.2:c.432+263A>G	NP_001244316.1:n.432+263A>G
NM_001349956.2:c.894+263A>G	NP_001336885.1:n.894+263A>G