Canonical Allele Identifier: CA2400238365

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695869G= , CM000684.2:g.28695869G=	GRCh38
NC_000022.10:g.29091857G= , CM000684.1:g.29091857G=	GRCh37
NC_000022.9:g.27421857G=	NCBI36
NG_008150.1:g.50966C=
NG_008150.2:g.50998C=

Transcript Alleles

HGVS	Amino-acid Change
NM_007194.4:c.1100C= MANE Select	NP_009125.1:p.Thr367=
ENST00000404276.6:c.1100C= MANE Select	ENSP00000385747.1:p.Thr367=
NM_001005735.1:c.1229C=	NP_001005735.1:p.Thr410=
NM_001005735.2:c.1229C=	NP_001005735.1:p.Thr410=
NM_001257387.1:c.437C=	NP_001244316.1:p.Thr146=
NM_001257387.2:c.437C=	NP_001244316.1:p.Thr146=
NM_001349956.1:c.899C=	NP_001336885.1:p.Thr300=
NM_001349956.2:c.899C=	NP_001336885.1:p.Thr300=
NM_007194.3:c.1100C=	NP_009125.1:p.Thr367=
NM_145862.2:c.1013C=	NP_665861.1:p.Thr338=
ENST00000328354.10:c.1100C=	ENSP00000329178.6:p.Thr367=
ENST00000348295.7:c.1013C=	ENSP00000329012.5:p.Thr338=
ENST00000382580.6:c.1229C=	ENSP00000372023.2:p.Thr410=
ENST00000402731.5:c.1013C=	ENSP00000384835.1:p.Thr338=
ENST00000402731.6:c.899C=	ENSP00000384835.2:p.Thr300=
ENST00000403642.5:c.827C=	ENSP00000384919.1:p.Thr276=
ENST00000404276.5:c.1100C=	ENSP00000385747.1:p.Thr367=
ENST00000405598.5:c.1100C=	ENSP00000386087.1:p.Thr367=
ENST00000416671.5:c.*590C=	ENSP00000402225.1:n.*590C=
ENST00000417588.5:c.1009C=	ENSP00000412901.1:n.1009C=
ENST00000425190.7:c.437C=	ENSP00000390244.2:p.Thr146=
ENST00000433728.5:c.1038C=	ENSP00000404400.1:n.1038C=
ENST00000434810.5:c.331C=
ENST00000448511.5:c.990C=	ENSP00000404567.1:n.990C=
ENST00000456369.5:c.263+3969C=
ENST00000464581.6:c.440C=	ENSP00000483777.2:p.Thr147=
ENST00000648295.1:n.652C=
ENST00000649563.1:c.437C=	ENSP00000496928.1:p.Thr146=
ENST00000650281.1:c.1100C=	ENSP00000497000.1:p.Thr367=
ENST00000711048.1:c.1009-627C=	ENSP00000518557.1:n.1009-627C=
XM_006724114.2:c.620C=	XP_006724177.1:p.Thr207=
XM_006724114.3:c.653C=	XP_006724177.2:p.Thr218=
XM_006724116.2:c.557C=	XP_006724179.2:p.Thr186=
XM_011529839.1:c.1259C=	XP_011528141.1:p.Thr420=
XM_011529839.2:c.1259C=	XP_011528141.1:p.Thr420=
XM_011529840.1:c.1172C=	XP_011528142.1:p.Thr391=
XM_011529840.3:c.1172C=	XP_011528142.1:p.Thr391=
XM_011529841.1:c.1028C=	XP_011528143.1:p.Thr343=
XM_011529842.1:c.929C=	XP_011528144.1:p.Thr310=
XM_011529842.2:c.929C=	XP_011528144.1:p.Thr310=
XM_011529843.1:c.899C=	XP_011528145.1:p.Thr300=
XM_011529845.1:c.437C=	XP_011528147.1:p.Thr146=
XM_011529845.2:c.437C=	XP_011528147.1:p.Thr146=
XM_017028560.1:c.1223C=	XP_016884049.1:p.Thr408=
XM_017028561.2:c.437C=	XP_016884050.1:p.Thr146=
XM_024452148.1:c.1130C=	XP_024307916.1:p.Thr377=
XM_024452149.1:c.1043C=	XP_024307917.1:p.Thr348=
XR_937805.1:n.1259C=
XR_937805.2:n.1270C=
XR_937806.1:n.1167C=
XR_937806.2:n.1183C=