Canonical Allele Identifier: CA323013913

Gene: CHEK2

Linked Data

• dbSNP Id: rs1026528097
• gnomAD v3: 22-28704655-T-TACAG
• gnomAD v4: 22-28704655-T-TACAG
• MyVariant Identifiers: chr22:g.29100643_29100644insACAG (hg19) ; chr22:g.28704655_28704656insACAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28704657_28704660dup , CM000684.2:g.28704657_28704660dup	GRCh38
NC_000022.10:g.29100645_29100648dup , CM000684.1:g.29100645_29100648dup	GRCh37
NC_000022.9:g.27430645_27430648dup	NCBI36
NG_008150.1:g.42176_42179dup
NG_008150.2:g.42208_42211dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000439346.6:c.756-1093_756-1090dup	ENSP00000396903.2:n.756-1093_756-1090dup
ENST00000711048.1:c.847-1093_847-1090dup	ENSP00000518557.1:n.847-1093_847-1090dup
ENST00000402731.6:c.646-1093_646-1090dup	ENSP00000384835.2:n.646-1093_646-1090dup
ENST00000404276.6:c.847-1093_847-1090dup MANE Select	ENSP00000385747.1:n.847-1093_847-1090dup
ENST00000425190.7:c.184-1093_184-1090dup	ENSP00000390244.2:n.184-1093_184-1090dup
ENST00000464581.6:c.187-1093_187-1090dup	ENSP00000483777.2:n.187-1093_187-1090dup
ENST00000648295.1:n.399-1093_399-1090dup
ENST00000649563.1:c.184-1093_184-1090dup	ENSP00000496928.1:n.184-1093_184-1090dup
ENST00000650281.1:c.847-1093_847-1090dup	ENSP00000497000.1:n.847-1093_847-1090dup
ENST00000328354.10:c.847-1093_847-1090dup	ENSP00000329178.6:n.847-1093_847-1090dup
ENST00000348295.7:c.847-1093_847-1090dup	ENSP00000329012.5:n.847-1093_847-1090dup
ENST00000382580.6:c.976-1093_976-1090dup	ENSP00000372023.2:n.976-1093_976-1090dup
ENST00000402731.5:c.847-1093_847-1090dup	ENSP00000384835.1:n.847-1093_847-1090dup
ENST00000403642.5:c.574-1093_574-1090dup	ENSP00000384919.1:n.574-1093_574-1090dup
ENST00000404276.5:c.847-1093_847-1090dup	ENSP00000385747.1:n.847-1093_847-1090dup
ENST00000405598.5:c.847-1093_847-1090dup	ENSP00000386087.1:n.847-1093_847-1090dup
ENST00000416671.5:c.*337-1093_*337-1090dup	ENSP00000402225.1:n.*337-1093_*337-1090du...
ENST00000417588.5:c.756-1093_756-1090dup	ENSP00000412901.1:n.756-1093_756-1090dup
ENST00000425190.6:c.184-1093_184-1090dup	ENSP00000390244.1:n.184-1093_184-1090dup
ENST00000433028.6:c.*572-1093_*572-1090dup	ENSP00000403659.1:n.*572-1093_*572-1090du...
ENST00000433728.5:c.847-4722_847-4719dup	ENSP00000404400.1:n.847-4722_847-4719dup
ENST00000434810.5:c.78-1093_78-1090dup
ENST00000439346.5:c.318-1093_318-1090dup	ENSP00000396903.1:n.318-1093_318-1090dup
ENST00000447421.5:c.646-1093_646-1090dup	ENSP00000397478.2:n.646-1093_646-1090dup
ENST00000448511.5:c.737-1093_737-1090dup	ENSP00000404567.1:n.737-1093_737-1090dup
ENST00000456369.5:c.102-1093_102-1090dup
ENST00000464581.5:c.187-1093_187-1090dup	ENSP00000483777.1:n.187-1093_187-1090dup
ENST00000491919.5:n.404-1093_404-1090dup
NM_001005735.1:c.976-1093_976-1090dup	NP_001005735.1:n.976-1093_976-1090dup
NM_001257387.1:c.184-1093_184-1090dup	NP_001244316.1:n.184-1093_184-1090dup
NM_007194.3:c.847-1093_847-1090dup	NP_009125.1:n.847-1093_847-1090dup
NM_145862.2:c.847-1093_847-1090dup	NP_665861.1:n.847-1093_847-1090dup
XM_006724114.2:c.367-1093_367-1090dup	XP_006724177.1:n.367-1093_367-1090dup
XM_006724116.2:c.304-1093_304-1090dup	XP_006724179.2:n.304-1093_304-1090dup
XM_011529839.1:c.1006-1093_1006-1090dup	XP_011528141.1:n.1006-1093_1006-1090dup
XM_011529840.1:c.1006-1093_1006-1090dup	XP_011528142.1:n.1006-1093_1006-1090dup
XM_011529841.1:c.775-1093_775-1090dup	XP_011528143.1:n.775-1093_775-1090dup
XM_011529842.1:c.676-1093_676-1090dup	XP_011528144.1:n.676-1093_676-1090dup
XM_011529843.1:c.646-1093_646-1090dup	XP_011528145.1:n.646-1093_646-1090dup
XM_011529844.1:c.1006-1093_1006-1090dup	XP_011528146.1:n.1006-1093_1006-1090dup
XM_011529845.1:c.184-1093_184-1090dup	XP_011528147.1:n.184-1093_184-1090dup
XR_937805.1:n.1068-4722_1068-4719dup
XR_937806.1:n.1063-4722_1063-4719dup
XR_937807.1:n.1063-4722_1063-4719dup
NM_001349956.1:c.646-1093_646-1090dup	NP_001336885.1:n.646-1093_646-1090dup
NM_007194.4:c.847-1093_847-1090dup MANE Select	NP_009125.1:n.847-1093_847-1090dup
XM_006724114.3:c.400-1093_400-1090dup	XP_006724177.2:n.400-1093_400-1090dup
XM_011529839.2:c.1006-1093_1006-1090dup	XP_011528141.1:n.1006-1093_1006-1090dup
XM_011529840.3:c.1006-1093_1006-1090dup	XP_011528142.1:n.1006-1093_1006-1090dup
XM_011529842.2:c.676-1093_676-1090dup	XP_011528144.1:n.676-1093_676-1090dup
XM_011529844.2:c.1006-1093_1006-1090dup	XP_011528146.1:n.1006-1093_1006-1090dup
XM_011529845.2:c.184-1093_184-1090dup	XP_011528147.1:n.184-1093_184-1090dup
XM_017028560.1:c.970-1093_970-1090dup	XP_016884049.1:n.970-1093_970-1090dup
XM_017028561.2:c.184-1093_184-1090dup	XP_016884050.1:n.184-1093_184-1090dup
XM_024452148.1:c.877-1093_877-1090dup	XP_024307916.1:n.877-1093_877-1090dup
XM_024452149.1:c.877-1093_877-1090dup	XP_024307917.1:n.877-1093_877-1090dup
XR_937805.2:n.1079-4722_1079-4719dup
XR_937806.2:n.1079-4722_1079-4719dup
XR_937807.2:n.1079-4722_1079-4719dup
NM_001005735.2:c.976-1093_976-1090dup	NP_001005735.1:n.976-1093_976-1090dup
NM_001257387.2:c.184-1093_184-1090dup	NP_001244316.1:n.184-1093_184-1090dup
NM_001349956.2:c.646-1093_646-1090dup	NP_001336885.1:n.646-1093_646-1090dup