Canonical Allele Identifier: CA2400237528

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694104G= , CM000684.2:g.28694104G=	GRCh38
NC_000022.10:g.29090092G= , CM000684.1:g.29090092G=	GRCh37
NC_000022.9:g.27420092G=	NCBI36
NG_008150.1:g.52731C=
NG_008150.2:g.52763C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*124C=	ENSP00000518557.1:n.*124C=
ENST00000402731.6:c.1188C=	ENSP00000384835.2:p.Val396=
ENST00000404276.6:c.1389C= MANE Select	ENSP00000385747.1:p.Val463=
ENST00000425190.7:c.726C=	ENSP00000390244.2:p.Val242=
ENST00000464581.6:c.729C=	ENSP00000483777.2:p.Val243=
ENST00000648295.1:n.941C=
ENST00000649563.1:c.726C=	ENSP00000496928.1:p.Val242=
ENST00000650281.1:c.1389C=	ENSP00000497000.1:p.Val463=
ENST00000328354.10:c.1389C=	ENSP00000329178.6:p.Val463=
ENST00000348295.7:c.1302C=	ENSP00000329012.5:p.Val434=
ENST00000382580.6:c.1518C=	ENSP00000372023.2:p.Val506=
ENST00000402731.5:c.1302C=	ENSP00000384835.1:p.Val434=
ENST00000403642.5:c.1116C=	ENSP00000384919.1:p.Val372=
ENST00000404276.5:c.1389C=	ENSP00000385747.1:p.Val463=
ENST00000405598.5:c.1389C=	ENSP00000386087.1:p.Val463=
ENST00000416671.5:c.*879C=	ENSP00000402225.1:n.*879C=
ENST00000417588.5:c.1298C=	ENSP00000412901.1:n.1298C=
ENST00000433728.5:c.1327C=	ENSP00000404400.1:n.1327C=
ENST00000434810.5:c.587C=
ENST00000448511.5:c.1279C=	ENSP00000404567.1:n.1279C=
ENST00000456369.5:c.264-4889C=
NM_001005735.1:c.1518C=	NP_001005735.1:p.Val506=
NM_001257387.1:c.726C=	NP_001244316.1:p.Val242=
NM_007194.3:c.1389C=	NP_009125.1:p.Val463=
NM_145862.2:c.1302C=	NP_665861.1:p.Val434=
XM_006724114.2:c.909C=	XP_006724177.1:p.Val303=
XM_006724116.2:c.846C=	XP_006724179.2:p.Val282=
XM_011529839.1:c.1548C=	XP_011528141.1:p.Val516=
XM_011529840.1:c.1461C=	XP_011528142.1:p.Val487=
XM_011529841.1:c.1317C=	XP_011528143.1:p.Val439=
XM_011529842.1:c.1218C=	XP_011528144.1:p.Val406=
XM_011529843.1:c.1188C=	XP_011528145.1:p.Val396=
XM_011529845.1:c.726C=	XP_011528147.1:p.Val242=
XR_937805.1:n.1548C=
NM_001349956.1:c.1188C=	NP_001336885.1:p.Val396=
NM_007194.4:c.1389C= MANE Select	NP_009125.1:p.Val463=
XM_006724114.3:c.942C=	XP_006724177.2:p.Val314=
XM_011529839.2:c.1548C=	XP_011528141.1:p.Val516=
XM_011529840.3:c.1461C=	XP_011528142.1:p.Val487=
XM_011529842.2:c.1218C=	XP_011528144.1:p.Val406=
XM_011529845.2:c.726C=	XP_011528147.1:p.Val242=
XM_017028560.1:c.1512C=	XP_016884049.1:p.Val504=
XM_017028561.2:c.726C=	XP_016884050.1:p.Val242=
XM_024452148.1:c.1419C=	XP_024307916.1:p.Val473=
XM_024452149.1:c.1332C=	XP_024307917.1:p.Val444=
XR_937805.2:n.1559C=
NM_001005735.2:c.1518C=	NP_001005735.1:p.Val506=
NM_001257387.2:c.726C=	NP_001244316.1:p.Val242=
NM_001349956.2:c.1188C=	NP_001336885.1:p.Val396=