Canonical Allele Identifier: CA2573157950

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 1454011
• ClinVar RCV Id: RCV001941658
• dbSNP Id: rs2145801378

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695723del , CM000684.2:g.28695723del	GRCh38
NC_000022.10:g.29091711del , CM000684.1:g.29091711del	GRCh37
NC_000022.9:g.27421711del	NCBI36
NG_008150.1:g.51112del
NG_008150.2:g.51144del

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-481del	ENSP00000518557.1:n.1009-481del
ENST00000402731.6:c.1045del	ENSP00000384835.2:p.Ile349PhefsTer21
ENST00000404276.6:c.1246del MANE Select	ENSP00000385747.1:p.Ile416PhefsTer21
ENST00000425190.7:c.583del	ENSP00000390244.2:p.Ile195PhefsTer21
ENST00000464581.6:c.586del	ENSP00000483777.2:p.Ile196PhefsTer21
ENST00000648295.1:n.798del
ENST00000649563.1:c.583del	ENSP00000496928.1:p.Ile195PhefsTer21
ENST00000650281.1:c.1246del	ENSP00000497000.1:p.Ile416PhefsTer21
ENST00000328354.10:c.1246del	ENSP00000329178.6:p.Ile416PhefsTer21
ENST00000348295.7:c.1159del	ENSP00000329012.5:p.Ile387PhefsTer21
ENST00000382580.6:c.1375del	ENSP00000372023.2:p.Ile459PhefsTer21
ENST00000402731.5:c.1159del	ENSP00000384835.1:p.Ile387PhefsTer21
ENST00000403642.5:c.973del	ENSP00000384919.1:p.Ile325PhefsTer21
ENST00000404276.5:c.1246del	ENSP00000385747.1:p.Ile416PhefsTer21
ENST00000405598.5:c.1246del	ENSP00000386087.1:p.Ile416PhefsTer21
ENST00000416671.5:c.*736del	ENSP00000402225.1:n.*736del
ENST00000417588.5:c.1155del	ENSP00000412901.1:n.1155del
ENST00000433728.5:c.1184del	ENSP00000404400.1:n.1184del
ENST00000434810.5:c.477del
ENST00000448511.5:c.1136del	ENSP00000404567.1:n.1136del
ENST00000456369.5:c.263+4115del
NM_001005735.1:c.1375del	NP_001005735.1:p.Ile459PhefsTer21
NM_001257387.1:c.583del	NP_001244316.1:p.Ile195PhefsTer21
NM_007194.3:c.1246del	NP_009125.1:p.Ile416PhefsTer21
NM_145862.2:c.1159del	NP_665861.1:p.Ile387PhefsTer21
XM_006724114.2:c.766del	XP_006724177.1:p.Ile256PhefsTer21
XM_006724116.2:c.703del	XP_006724179.2:p.Ile235PhefsTer21
XM_011529839.1:c.1405del	XP_011528141.1:p.Ile469PhefsTer21
XM_011529840.1:c.1318del	XP_011528142.1:p.Ile440PhefsTer21
XM_011529841.1:c.1174del	XP_011528143.1:p.Ile392PhefsTer21
XM_011529842.1:c.1075del	XP_011528144.1:p.Ile359PhefsTer21
XM_011529843.1:c.1045del	XP_011528145.1:p.Ile349PhefsTer21
XM_011529845.1:c.583del	XP_011528147.1:p.Ile195PhefsTer21
XR_937805.1:n.1405del
NM_001349956.1:c.1045del	NP_001336885.1:p.Ile349PhefsTer21
NM_007194.4:c.1246del MANE Select	NP_009125.1:p.Ile416PhefsTer21
XM_006724114.3:c.799del	XP_006724177.2:p.Ile267PhefsTer21
XM_011529839.2:c.1405del	XP_011528141.1:p.Ile469PhefsTer21
XM_011529840.3:c.1318del	XP_011528142.1:p.Ile440PhefsTer21
XM_011529842.2:c.1075del	XP_011528144.1:p.Ile359PhefsTer21
XM_011529845.2:c.583del	XP_011528147.1:p.Ile195PhefsTer21
XM_017028560.1:c.1369del	XP_016884049.1:p.Ile457PhefsTer21
XM_017028561.2:c.583del	XP_016884050.1:p.Ile195PhefsTer21
XM_024452148.1:c.1276del	XP_024307916.1:p.Ile426PhefsTer21
XM_024452149.1:c.1189del	XP_024307917.1:p.Ile397PhefsTer21
XR_937805.2:n.1416del
NM_001005735.2:c.1375del	NP_001005735.1:p.Ile459PhefsTer21
NM_001257387.2:c.583del	NP_001244316.1:p.Ile195PhefsTer21
NM_001349956.2:c.1045del	NP_001336885.1:p.Ile349PhefsTer21