Canonical Allele Identifier: CA2580099468

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 1761488
• ClinVar RCV Id: RCV002419068

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695719dup , CM000684.2:g.28695719dup	GRCh38
NC_000022.10:g.29091707dup , CM000684.1:g.29091707dup	GRCh37
NC_000022.9:g.27421707dup	NCBI36
NG_008150.1:g.51120dup
NG_008150.2:g.51152dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-473dup	ENSP00000518557.1:n.1009-473dup
ENST00000402731.6:c.1053dup	ENSP00000384835.2:p.Ile352TyrfsTer4
ENST00000404276.6:c.1254dup MANE Select	ENSP00000385747.1:p.Ile419TyrfsTer4
ENST00000425190.7:c.591dup	ENSP00000390244.2:p.Ile198TyrfsTer4
ENST00000464581.6:c.594dup	ENSP00000483777.2:p.Ile199TyrfsTer4
ENST00000648295.1:n.806dup
ENST00000649563.1:c.591dup	ENSP00000496928.1:p.Ile198TyrfsTer4
ENST00000650281.1:c.1254dup	ENSP00000497000.1:p.Ile419TyrfsTer4
ENST00000328354.10:c.1254dup	ENSP00000329178.6:p.Ile419TyrfsTer4
ENST00000348295.7:c.1167dup	ENSP00000329012.5:p.Ile390TyrfsTer4
ENST00000382580.6:c.1383dup	ENSP00000372023.2:p.Ile462TyrfsTer4
ENST00000402731.5:c.1167dup	ENSP00000384835.1:p.Ile390TyrfsTer4
ENST00000403642.5:c.981dup	ENSP00000384919.1:p.Ile328TyrfsTer4
ENST00000404276.5:c.1254dup	ENSP00000385747.1:p.Ile419TyrfsTer4
ENST00000405598.5:c.1254dup	ENSP00000386087.1:p.Ile419TyrfsTer4
ENST00000416671.5:c.*744dup	ENSP00000402225.1:n.*744dup
ENST00000417588.5:c.1163dup	ENSP00000412901.1:n.1163dup
ENST00000433728.5:c.1192dup	ENSP00000404400.1:n.1192dup
ENST00000434810.5:c.485dup
ENST00000448511.5:c.1144dup	ENSP00000404567.1:n.1144dup
ENST00000456369.5:c.263+4123dup
NM_001005735.1:c.1383dup	NP_001005735.1:p.Ile462TyrfsTer4
NM_001257387.1:c.591dup	NP_001244316.1:p.Ile198TyrfsTer4
NM_007194.3:c.1254dup	NP_009125.1:p.Ile419TyrfsTer4
NM_145862.2:c.1167dup	NP_665861.1:p.Ile390TyrfsTer4
XM_006724114.2:c.774dup	XP_006724177.1:p.Ile259TyrfsTer4
XM_006724116.2:c.711dup	XP_006724179.2:p.Ile238TyrfsTer4
XM_011529839.1:c.1413dup	XP_011528141.1:p.Ile472TyrfsTer4
XM_011529840.1:c.1326dup	XP_011528142.1:p.Ile443TyrfsTer4
XM_011529841.1:c.1182dup	XP_011528143.1:p.Ile395TyrfsTer4
XM_011529842.1:c.1083dup	XP_011528144.1:p.Ile362TyrfsTer4
XM_011529843.1:c.1053dup	XP_011528145.1:p.Ile352TyrfsTer4
XM_011529845.1:c.591dup	XP_011528147.1:p.Ile198TyrfsTer4
XR_937805.1:n.1413dup
NM_001349956.1:c.1053dup	NP_001336885.1:p.Ile352TyrfsTer4
NM_007194.4:c.1254dup MANE Select	NP_009125.1:p.Ile419TyrfsTer4
XM_006724114.3:c.807dup	XP_006724177.2:p.Ile270TyrfsTer4
XM_011529839.2:c.1413dup	XP_011528141.1:p.Ile472TyrfsTer4
XM_011529840.3:c.1326dup	XP_011528142.1:p.Ile443TyrfsTer4
XM_011529842.2:c.1083dup	XP_011528144.1:p.Ile362TyrfsTer4
XM_011529845.2:c.591dup	XP_011528147.1:p.Ile198TyrfsTer4
XM_017028560.1:c.1377dup	XP_016884049.1:p.Ile460TyrfsTer4
XM_017028561.2:c.591dup	XP_016884050.1:p.Ile198TyrfsTer4
XM_024452148.1:c.1284dup	XP_024307916.1:p.Ile429TyrfsTer4
XM_024452149.1:c.1197dup	XP_024307917.1:p.Ile400TyrfsTer4
XR_937805.2:n.1424dup
NM_001005735.2:c.1383dup	NP_001005735.1:p.Ile462TyrfsTer4
NM_001257387.2:c.591dup	NP_001244316.1:p.Ile198TyrfsTer4
NM_001349956.2:c.1053dup	NP_001336885.1:p.Ile352TyrfsTer4