Canonical Allele Identifier: CA2400237503

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694075G= , CM000684.2:g.28694075G=	GRCh38
NC_000022.10:g.29090063G= , CM000684.1:g.29090063G=	GRCh37
NC_000022.9:g.27420063G=	NCBI36
NG_008150.1:g.52760C=
NG_008150.2:g.52792C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.*153C=	ENSP00000518557.1:n.*153C=
ENST00000402731.6:c.1217C=	ENSP00000384835.2:p.Ala406=
ENST00000404276.6:c.1418C= MANE Select	ENSP00000385747.1:p.Ala473=
ENST00000425190.7:c.755C=	ENSP00000390244.2:p.Ala252=
ENST00000464581.6:c.758C=	ENSP00000483777.2:p.Ala253=
ENST00000648295.1:n.970C=
ENST00000649563.1:c.755C=	ENSP00000496928.1:p.Ala252=
ENST00000650281.1:c.1418C=	ENSP00000497000.1:p.Ala473=
ENST00000328354.10:c.1418C=	ENSP00000329178.6:p.Ala473=
ENST00000348295.7:c.1331C=	ENSP00000329012.5:p.Ala444=
ENST00000382580.6:c.1547C=	ENSP00000372023.2:p.Ala516=
ENST00000402731.5:c.1331C=	ENSP00000384835.1:p.Ala444=
ENST00000403642.5:c.1145C=	ENSP00000384919.1:p.Ala382=
ENST00000404276.5:c.1418C=	ENSP00000385747.1:p.Ala473=
ENST00000405598.5:c.1418C=	ENSP00000386087.1:p.Ala473=
ENST00000416671.5:c.*908C=	ENSP00000402225.1:n.*908C=
ENST00000417588.5:c.1327C=	ENSP00000412901.1:n.1327C=
ENST00000433728.5:c.1356C=	ENSP00000404400.1:n.1356C=
ENST00000434810.5:c.616C=
ENST00000448511.5:c.1308C=	ENSP00000404567.1:n.1308C=
ENST00000456369.5:c.264-4860C=
NM_001005735.1:c.1547C=	NP_001005735.1:p.Ala516=
NM_001257387.1:c.755C=	NP_001244316.1:p.Ala252=
NM_007194.3:c.1418C=	NP_009125.1:p.Ala473=
NM_145862.2:c.1331C=	NP_665861.1:p.Ala444=
XM_006724114.2:c.938C=	XP_006724177.1:p.Ala313=
XM_006724116.2:c.875C=	XP_006724179.2:p.Ala292=
XM_011529839.1:c.1577C=	XP_011528141.1:p.Ala526=
XM_011529840.1:c.1490C=	XP_011528142.1:p.Ala497=
XM_011529841.1:c.1346C=	XP_011528143.1:p.Ala449=
XM_011529842.1:c.1247C=	XP_011528144.1:p.Ala416=
XM_011529843.1:c.1217C=	XP_011528145.1:p.Ala406=
XM_011529845.1:c.755C=	XP_011528147.1:p.Ala252=
XR_937805.1:n.1577C=
NM_001349956.1:c.1217C=	NP_001336885.1:p.Ala406=
NM_007194.4:c.1418C= MANE Select	NP_009125.1:p.Ala473=
XM_006724114.3:c.971C=	XP_006724177.2:p.Ala324=
XM_011529839.2:c.1577C=	XP_011528141.1:p.Ala526=
XM_011529840.3:c.1490C=	XP_011528142.1:p.Ala497=
XM_011529842.2:c.1247C=	XP_011528144.1:p.Ala416=
XM_011529845.2:c.755C=	XP_011528147.1:p.Ala252=
XM_017028560.1:c.1541C=	XP_016884049.1:p.Ala514=
XM_017028561.2:c.755C=	XP_016884050.1:p.Ala252=
XM_024452148.1:c.1448C=	XP_024307916.1:p.Ala483=
XM_024452149.1:c.1361C=	XP_024307917.1:p.Ala454=
XR_937805.2:n.1588C=
NM_001005735.2:c.1547C=	NP_001005735.1:p.Ala516=
NM_001257387.2:c.755C=	NP_001244316.1:p.Ala252=
NM_001349956.2:c.1217C=	NP_001336885.1:p.Ala406=