Canonical Allele Identifier: CA2499226062

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 1074849
• ClinVar RCV Id: RCV001388288
• dbSNP Id: rs2145801350

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-481dup	ENSP00000518557.1:n.1009-481dup
ENST00000402731.6:c.1045dup	ENSP00000384835.2:p.Ile349AsnfsTer7
ENST00000404276.6:c.1246dup MANE Select	ENSP00000385747.1:p.Ile416AsnfsTer7
ENST00000425190.7:c.583dup	ENSP00000390244.2:p.Ile195AsnfsTer7
ENST00000464581.6:c.586dup	ENSP00000483777.2:p.Ile196AsnfsTer7
ENST00000648295.1:n.798dup
ENST00000649563.1:c.583dup	ENSP00000496928.1:p.Ile195AsnfsTer7
ENST00000650281.1:c.1246dup	ENSP00000497000.1:p.Ile416AsnfsTer7
ENST00000328354.10:c.1246dup	ENSP00000329178.6:p.Ile416AsnfsTer7
ENST00000348295.7:c.1159dup	ENSP00000329012.5:p.Ile387AsnfsTer7
ENST00000382580.6:c.1375dup	ENSP00000372023.2:p.Ile459AsnfsTer7
ENST00000402731.5:c.1159dup	ENSP00000384835.1:p.Ile387AsnfsTer7
ENST00000403642.5:c.973dup	ENSP00000384919.1:p.Ile325AsnfsTer7
ENST00000404276.5:c.1246dup	ENSP00000385747.1:p.Ile416AsnfsTer7
ENST00000405598.5:c.1246dup	ENSP00000386087.1:p.Ile416AsnfsTer7
ENST00000416671.5:c.*736dup	ENSP00000402225.1:n.*736dup
ENST00000417588.5:c.1155dup	ENSP00000412901.1:n.1155dup
ENST00000433728.5:c.1184dup	ENSP00000404400.1:n.1184dup
ENST00000434810.5:c.477dup
ENST00000448511.5:c.1136dup	ENSP00000404567.1:n.1136dup
ENST00000456369.5:c.263+4115dup
NM_001005735.1:c.1375dup	NP_001005735.1:p.Ile459AsnfsTer7
NM_001257387.1:c.583dup	NP_001244316.1:p.Ile195AsnfsTer7
NM_007194.3:c.1246dup	NP_009125.1:p.Ile416AsnfsTer7
NM_145862.2:c.1159dup	NP_665861.1:p.Ile387AsnfsTer7
XM_006724114.2:c.766dup	XP_006724177.1:p.Ile256AsnfsTer7
XM_006724116.2:c.703dup	XP_006724179.2:p.Ile235AsnfsTer7
XM_011529839.1:c.1405dup	XP_011528141.1:p.Ile469AsnfsTer7
XM_011529840.1:c.1318dup	XP_011528142.1:p.Ile440AsnfsTer7
XM_011529841.1:c.1174dup	XP_011528143.1:p.Ile392AsnfsTer7
XM_011529842.1:c.1075dup	XP_011528144.1:p.Ile359AsnfsTer7
XM_011529843.1:c.1045dup	XP_011528145.1:p.Ile349AsnfsTer7
XM_011529845.1:c.583dup	XP_011528147.1:p.Ile195AsnfsTer7
XR_937805.1:n.1405dup
NM_001349956.1:c.1045dup	NP_001336885.1:p.Ile349AsnfsTer7
NM_007194.4:c.1246dup MANE Select	NP_009125.1:p.Ile416AsnfsTer7
XM_006724114.3:c.799dup	XP_006724177.2:p.Ile267AsnfsTer7
XM_011529839.2:c.1405dup	XP_011528141.1:p.Ile469AsnfsTer7
XM_011529840.3:c.1318dup	XP_011528142.1:p.Ile440AsnfsTer7
XM_011529842.2:c.1075dup	XP_011528144.1:p.Ile359AsnfsTer7
XM_011529845.2:c.583dup	XP_011528147.1:p.Ile195AsnfsTer7
XM_017028560.1:c.1369dup	XP_016884049.1:p.Ile457AsnfsTer7
XM_017028561.2:c.583dup	XP_016884050.1:p.Ile195AsnfsTer7
XM_024452148.1:c.1276dup	XP_024307916.1:p.Ile426AsnfsTer7
XM_024452149.1:c.1189dup	XP_024307917.1:p.Ile397AsnfsTer7
XR_937805.2:n.1416dup
NM_001005735.2:c.1375dup	NP_001005735.1:p.Ile459AsnfsTer7
NM_001257387.2:c.583dup	NP_001244316.1:p.Ile195AsnfsTer7
NM_001349956.2:c.1045dup	NP_001336885.1:p.Ile349AsnfsTer7