Canonical Allele Identifier: CA2580099604

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 2131371
• ClinVar RCV Id: RCV003061936

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699949_28699954del , CM000684.2:g.28699949_28699954del	GRCh38
NC_000022.10:g.29095937_29095942del , CM000684.1:g.29095937_29095942del	GRCh37
NC_000022.9:g.27425937_27425942del	NCBI36
NG_008150.1:g.46884_46889del
NG_008150.2:g.46916_46921del

Transcript Alleles

HGVS	Amino-acid change
ENST00000439346.6:c.818-14_818-9del	ENSP00000396903.2:n.818-14_818-9del
ENST00000711048.1:c.909-14_909-9del	ENSP00000518557.1:n.909-14_909-9del
ENST00000402731.6:c.708-14_708-9del	ENSP00000384835.2:n.708-14_708-9del
ENST00000404276.6:c.909-14_909-9del MANE Select	ENSP00000385747.1:n.909-14_909-9del
ENST00000425190.7:c.246-14_246-9del	ENSP00000390244.2:n.246-14_246-9del
ENST00000464581.6:c.249-14_249-9del	ENSP00000483777.2:n.249-14_249-9del
ENST00000648295.1:n.461-14_461-9del
ENST00000649563.1:c.246-14_246-9del	ENSP00000496928.1:n.246-14_246-9del
ENST00000650281.1:c.909-14_909-9del	ENSP00000497000.1:n.909-14_909-9del
ENST00000328354.10:c.909-14_909-9del	ENSP00000329178.6:n.909-14_909-9del
ENST00000348295.7:c.909-14_909-9del	ENSP00000329012.5:n.909-14_909-9del
ENST00000382580.6:c.1038-14_1038-9del	ENSP00000372023.2:n.1038-14_1038-9del
ENST00000402731.5:c.909-14_909-9del	ENSP00000384835.1:n.909-14_909-9del
ENST00000403642.5:c.636-14_636-9del	ENSP00000384919.1:n.636-14_636-9del
ENST00000404276.5:c.909-14_909-9del	ENSP00000385747.1:n.909-14_909-9del
ENST00000405598.5:c.909-14_909-9del	ENSP00000386087.1:n.909-14_909-9del
ENST00000416671.5:c.*399-14_*399-9del	ENSP00000402225.1:n.*399-14_*399-9del
ENST00000417588.5:c.818-14_818-9del	ENSP00000412901.1:n.818-14_818-9del
ENST00000425190.6:c.246-14_246-9del	ENSP00000390244.1:n.246-14_246-9del
ENST00000433028.6:c.*634-14_*634-9del	ENSP00000403659.1:n.*634-14_*634-9del
ENST00000433728.5:c.847-14_847-9del	ENSP00000404400.1:n.847-14_847-9del
ENST00000434810.5:c.140-14_140-9del
ENST00000439346.5:c.380-14_380-9del	ENSP00000396903.1:n.380-14_380-9del
ENST00000447421.5:c.708-14_708-9del	ENSP00000397478.2:n.708-14_708-9del
ENST00000448511.5:c.799-14_799-9del	ENSP00000404567.1:n.799-14_799-9del
ENST00000456369.5:c.164-14_164-9del
ENST00000464581.5:c.249-14_249-9del	ENSP00000483777.1:n.249-14_249-9del
ENST00000491919.5:n.466-14_466-9del
NM_001005735.1:c.1038-14_1038-9del	NP_001005735.1:n.1038-14_1038-9del
NM_001257387.1:c.246-14_246-9del	NP_001244316.1:n.246-14_246-9del
NM_007194.3:c.909-14_909-9del	NP_009125.1:n.909-14_909-9del
NM_145862.2:c.909-14_909-9del	NP_665861.1:n.909-14_909-9del
XM_006724114.2:c.429-14_429-9del	XP_006724177.1:n.429-14_429-9del
XM_006724116.2:c.366-14_366-9del	XP_006724179.2:n.366-14_366-9del
XM_011529839.1:c.1068-14_1068-9del	XP_011528141.1:n.1068-14_1068-9del
XM_011529840.1:c.1068-14_1068-9del	XP_011528142.1:n.1068-14_1068-9del
XM_011529841.1:c.837-14_837-9del	XP_011528143.1:n.837-14_837-9del
XM_011529842.1:c.738-14_738-9del	XP_011528144.1:n.738-14_738-9del
XM_011529843.1:c.708-14_708-9del	XP_011528145.1:n.708-14_708-9del
XM_011529844.1:c.1068-14_1068-9del	XP_011528146.1:n.1068-14_1068-9del
XM_011529845.1:c.246-14_246-9del	XP_011528147.1:n.246-14_246-9del
XR_937805.1:n.1068-14_1068-9del
XR_937806.1:n.1063-14_1063-9del
XR_937807.1:n.1063-14_1063-9del
NM_001349956.1:c.708-14_708-9del	NP_001336885.1:n.708-14_708-9del
NM_007194.4:c.909-14_909-9del MANE Select	NP_009125.1:n.909-14_909-9del
XM_006724114.3:c.462-14_462-9del	XP_006724177.2:n.462-14_462-9del
XM_011529839.2:c.1068-14_1068-9del	XP_011528141.1:n.1068-14_1068-9del
XM_011529840.3:c.1068-14_1068-9del	XP_011528142.1:n.1068-14_1068-9del
XM_011529842.2:c.738-14_738-9del	XP_011528144.1:n.738-14_738-9del
XM_011529844.2:c.1068-14_1068-9del	XP_011528146.1:n.1068-14_1068-9del
XM_011529845.2:c.246-14_246-9del	XP_011528147.1:n.246-14_246-9del
XM_017028560.1:c.1032-14_1032-9del	XP_016884049.1:n.1032-14_1032-9del
XM_017028561.2:c.246-14_246-9del	XP_016884050.1:n.246-14_246-9del
XM_024452148.1:c.939-14_939-9del	XP_024307916.1:n.939-14_939-9del
XM_024452149.1:c.939-14_939-9del	XP_024307917.1:n.939-14_939-9del
XR_937805.2:n.1079-14_1079-9del
XR_937806.2:n.1079-14_1079-9del
XR_937807.2:n.1079-14_1079-9del
NM_001005735.2:c.1038-14_1038-9del	NP_001005735.1:n.1038-14_1038-9del
NM_001257387.2:c.246-14_246-9del	NP_001244316.1:n.246-14_246-9del
NM_001349956.2:c.708-14_708-9del	NP_001336885.1:n.708-14_708-9del