Canonical Allele Identifier: CA752165947

Gene: CHEK2

Linked Data

• dbSNP Id: rs1477451412
• gnomAD v3: 22-28695631-G-C
• gnomAD v4: 22-28695631-G-C
• MyVariant Identifiers: chr22:g.29091619G>C (hg19) ; chr22:g.28695631G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695631G>C , CM000684.2:g.28695631G>C	GRCh38
NC_000022.10:g.29091619G>C , CM000684.1:g.29091619G>C	GRCh37
NC_000022.9:g.27421619G>C	NCBI36
NG_008150.1:g.51204C>G
NG_008150.2:g.51236C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-389C>G	ENSP00000518557.1:n.1009-389C>G
ENST00000402731.6:c.1058+79C>G	ENSP00000384835.2:n.1058+79C>G
ENST00000404276.6:c.1259+79C>G MANE Select	ENSP00000385747.1:n.1259+79C>G
ENST00000425190.7:c.596+79C>G	ENSP00000390244.2:n.596+79C>G
ENST00000464581.6:c.599+79C>G	ENSP00000483777.2:n.599+79C>G
ENST00000648295.1:n.811+79C>G
ENST00000649563.1:c.596+79C>G	ENSP00000496928.1:n.596+79C>G
ENST00000650281.1:c.1259+79C>G	ENSP00000497000.1:n.1259+79C>G
ENST00000328354.10:c.1259+79C>G	ENSP00000329178.6:n.1259+79C>G
ENST00000348295.7:c.1172+79C>G	ENSP00000329012.5:n.1172+79C>G
ENST00000382580.6:c.1388+79C>G	ENSP00000372023.2:n.1388+79C>G
ENST00000402731.5:c.1172+79C>G	ENSP00000384835.1:n.1172+79C>G
ENST00000403642.5:c.986+79C>G	ENSP00000384919.1:n.986+79C>G
ENST00000404276.5:c.1259+79C>G	ENSP00000385747.1:n.1259+79C>G
ENST00000405598.5:c.1259+79C>G	ENSP00000386087.1:n.1259+79C>G
ENST00000416671.5:c.*749+79C>G	ENSP00000402225.1:n.*749+79C>G
ENST00000417588.5:c.1168+79C>G	ENSP00000412901.1:n.1168+79C>G
ENST00000433728.5:c.1197+79C>G	ENSP00000404400.1:n.1197+79C>G
ENST00000434810.5:c.490+79C>G
ENST00000448511.5:c.1149+79C>G	ENSP00000404567.1:n.1149+79C>G
ENST00000456369.5:c.263+4207C>G
NM_001005735.1:c.1388+79C>G	NP_001005735.1:n.1388+79C>G
NM_001257387.1:c.596+79C>G	NP_001244316.1:n.596+79C>G
NM_007194.3:c.1259+79C>G	NP_009125.1:n.1259+79C>G
NM_145862.2:c.1172+79C>G	NP_665861.1:n.1172+79C>G
XM_006724114.2:c.779+79C>G	XP_006724177.1:n.779+79C>G
XM_006724116.2:c.716+79C>G	XP_006724179.2:n.716+79C>G
XM_011529839.1:c.1418+79C>G	XP_011528141.1:n.1418+79C>G
XM_011529840.1:c.1331+79C>G	XP_011528142.1:n.1331+79C>G
XM_011529841.1:c.1187+79C>G	XP_011528143.1:n.1187+79C>G
XM_011529842.1:c.1088+79C>G	XP_011528144.1:n.1088+79C>G
XM_011529843.1:c.1058+79C>G	XP_011528145.1:n.1058+79C>G
XM_011529845.1:c.596+79C>G	XP_011528147.1:n.596+79C>G
XR_937805.1:n.1418+79C>G
NM_001349956.1:c.1058+79C>G	NP_001336885.1:n.1058+79C>G
NM_007194.4:c.1259+79C>G MANE Select	NP_009125.1:n.1259+79C>G
XM_006724114.3:c.812+79C>G	XP_006724177.2:n.812+79C>G
XM_011529839.2:c.1418+79C>G	XP_011528141.1:n.1418+79C>G
XM_011529840.3:c.1331+79C>G	XP_011528142.1:n.1331+79C>G
XM_011529842.2:c.1088+79C>G	XP_011528144.1:n.1088+79C>G
XM_011529845.2:c.596+79C>G	XP_011528147.1:n.596+79C>G
XM_017028560.1:c.1382+79C>G	XP_016884049.1:n.1382+79C>G
XM_017028561.2:c.596+79C>G	XP_016884050.1:n.596+79C>G
XM_024452148.1:c.1289+79C>G	XP_024307916.1:n.1289+79C>G
XM_024452149.1:c.1202+79C>G	XP_024307917.1:n.1202+79C>G
XR_937805.2:n.1429+79C>G
NM_001005735.2:c.1388+79C>G	NP_001005735.1:n.1388+79C>G
NM_001257387.2:c.596+79C>G	NP_001244316.1:n.596+79C>G
NM_001349956.2:c.1058+79C>G	NP_001336885.1:n.1058+79C>G