Canonical Allele Identifier: CA513944959

Gene: CHEK2

Linked Data

• MyVariant Identifiers: chr22:g.29092892T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696904T>A , CM000684.2:g.28696904T>A	GRCh38
NC_000022.10:g.29092892T>A , CM000684.1:g.29092892T>A	GRCh37
NC_000022.9:g.27422892T>A	NCBI36
NG_008150.1:g.49931A>T
NG_008150.2:g.49963A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-1662A>T	ENSP00000518557.1:n.1009-1662A>T
ENST00000402731.6:c.891A>T	ENSP00000384835.2:p.Ile297=
ENST00000404276.6:c.1092A>T MANE Select	ENSP00000385747.1:p.Ile364=
ENST00000425190.7:c.429A>T	ENSP00000390244.2:p.Ile143=
ENST00000464581.6:c.432A>T	ENSP00000483777.2:p.Ile144=
ENST00000648295.1:n.644A>T
ENST00000649563.1:c.429A>T	ENSP00000496928.1:p.Ile143=
ENST00000650281.1:c.1092A>T	ENSP00000497000.1:p.Ile364=
ENST00000328354.10:c.1092A>T	ENSP00000329178.6:p.Ile364=
ENST00000348295.7:c.1009-1031A>T	ENSP00000329012.5:n.1009-1031A>T
ENST00000382580.6:c.1221A>T	ENSP00000372023.2:p.Ile407=
ENST00000402731.5:c.1009-1031A>T	ENSP00000384835.1:n.1009-1031A>T
ENST00000403642.5:c.819A>T	ENSP00000384919.1:p.Ile273=
ENST00000404276.5:c.1092A>T	ENSP00000385747.1:p.Ile364=
ENST00000405598.5:c.1092A>T	ENSP00000386087.1:p.Ile364=
ENST00000416671.5:c.*582A>T	ENSP00000402225.1:n.*582A>T
ENST00000417588.5:c.1001A>T	ENSP00000412901.1:n.1001A>T
ENST00000433028.6:c.*817A>T	ENSP00000403659.1:n.*817A>T
ENST00000433728.5:c.1030A>T	ENSP00000404400.1:n.1030A>T
ENST00000434810.5:c.323A>T
ENST00000447421.5:c.891A>T	ENSP00000397478.2:p.Ile297=
ENST00000448511.5:c.982A>T	ENSP00000404567.1:n.982A>T
ENST00000456369.5:c.263+2934A>T
NM_001005735.1:c.1221A>T	NP_001005735.1:p.Ile407=
NM_001257387.1:c.429A>T	NP_001244316.1:p.Ile143=
NM_007194.3:c.1092A>T	NP_009125.1:p.Ile364=
NM_145862.2:c.1009-1031A>T	NP_665861.1:n.1009-1031A>T
XM_006724114.2:c.612A>T	XP_006724177.1:p.Ile204=
XM_006724116.2:c.549A>T	XP_006724179.2:p.Ile183=
XM_011529839.1:c.1251A>T	XP_011528141.1:p.Ile417=
XM_011529840.1:c.1168-1031A>T	XP_011528142.1:n.1168-1031A>T
XM_011529841.1:c.1020A>T	XP_011528143.1:p.Ile340=
XM_011529842.1:c.921A>T	XP_011528144.1:p.Ile307=
XM_011529843.1:c.891A>T	XP_011528145.1:p.Ile297=
XM_011529845.1:c.429A>T	XP_011528147.1:p.Ile143=
XR_937805.1:n.1251A>T
XR_937806.1:n.1163-1031A>T
NM_001349956.1:c.891A>T	NP_001336885.1:p.Ile297=
NM_007194.4:c.1092A>T MANE Select	NP_009125.1:p.Ile364=
XM_006724114.3:c.645A>T	XP_006724177.2:p.Ile215=
XM_011529839.2:c.1251A>T	XP_011528141.1:p.Ile417=
XM_011529840.3:c.1168-1031A>T	XP_011528142.1:n.1168-1031A>T
XM_011529842.2:c.921A>T	XP_011528144.1:p.Ile307=
XM_011529845.2:c.429A>T	XP_011528147.1:p.Ile143=
XM_017028560.1:c.1215A>T	XP_016884049.1:p.Ile405=
XM_017028561.2:c.429A>T	XP_016884050.1:p.Ile143=
XM_024452148.1:c.1122A>T	XP_024307916.1:p.Ile374=
XM_024452149.1:c.1039-1031A>T	XP_024307917.1:n.1039-1031A>T
XR_937805.2:n.1262A>T
XR_937806.2:n.1179-1031A>T
NM_001005735.2:c.1221A>T	NP_001005735.1:p.Ile407=
NM_001257387.2:c.429A>T	NP_001244316.1:p.Ile143=
NM_001349956.2:c.891A>T	NP_001336885.1:p.Ile297=