Canonical Allele Identifier: CA2400237999

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695219G= , CM000684.2:g.28695219G=	GRCh38
NC_000022.10:g.29091207G= , CM000684.1:g.29091207G=	GRCh37
NC_000022.9:g.27421207G=	NCBI36
NG_008150.1:g.51616C=
NG_008150.2:g.51648C=

Transcript Alleles

HGVS	Amino-acid Change
NM_007194.4:c.1283C= MANE Select	NP_009125.1:p.Ser428=
ENST00000404276.6:c.1283C= MANE Select	ENSP00000385747.1:p.Ser428=
NM_001005735.1:c.1412C=	NP_001005735.1:p.Ser471=
NM_001005735.2:c.1412C=	NP_001005735.1:p.Ser471=
NM_001257387.1:c.620C=	NP_001244316.1:p.Ser207=
NM_001257387.2:c.620C=	NP_001244316.1:p.Ser207=
NM_001349956.1:c.1082C=	NP_001336885.1:p.Ser361=
NM_001349956.2:c.1082C=	NP_001336885.1:p.Ser361=
NM_007194.3:c.1283C=	NP_009125.1:p.Ser428=
NM_145862.2:c.1196C=	NP_665861.1:p.Ser399=
ENST00000328354.10:c.1283C=	ENSP00000329178.6:p.Ser428=
ENST00000348295.7:c.1196C=	ENSP00000329012.5:p.Ser399=
ENST00000382580.6:c.1412C=	ENSP00000372023.2:p.Ser471=
ENST00000402731.5:c.1196C=	ENSP00000384835.1:p.Ser399=
ENST00000402731.6:c.1082C=	ENSP00000384835.2:p.Ser361=
ENST00000403642.5:c.1010C=	ENSP00000384919.1:p.Ser337=
ENST00000404276.5:c.1283C=	ENSP00000385747.1:p.Ser428=
ENST00000405598.5:c.1283C=	ENSP00000386087.1:p.Ser428=
ENST00000416671.5:c.*773C=	ENSP00000402225.1:n.*773C=
ENST00000417588.5:c.1192C=	ENSP00000412901.1:n.1192C=
ENST00000425190.7:c.620C=	ENSP00000390244.2:p.Ser207=
ENST00000433728.5:c.1221C=	ENSP00000404400.1:n.1221C=
ENST00000434810.5:c.491-10C=
ENST00000448511.5:c.1173C=	ENSP00000404567.1:n.1173C=
ENST00000456369.5:c.263+4619C=
ENST00000464581.6:c.623C=	ENSP00000483777.2:p.Ser208=
ENST00000648295.1:n.835C=
ENST00000649563.1:c.620C=	ENSP00000496928.1:p.Ser207=
ENST00000650281.1:c.1283C=	ENSP00000497000.1:p.Ser428=
ENST00000711048.1:c.*18C=	ENSP00000518557.1:n.*18C=
XM_006724114.2:c.803C=	XP_006724177.1:p.Ser268=
XM_006724114.3:c.836C=	XP_006724177.2:p.Ser279=
XM_006724116.2:c.740C=	XP_006724179.2:p.Ser247=
XM_011529839.1:c.1442C=	XP_011528141.1:p.Ser481=
XM_011529839.2:c.1442C=	XP_011528141.1:p.Ser481=
XM_011529840.1:c.1355C=	XP_011528142.1:p.Ser452=
XM_011529840.3:c.1355C=	XP_011528142.1:p.Ser452=
XM_011529841.1:c.1211C=	XP_011528143.1:p.Ser404=
XM_011529842.1:c.1112C=	XP_011528144.1:p.Ser371=
XM_011529842.2:c.1112C=	XP_011528144.1:p.Ser371=
XM_011529843.1:c.1082C=	XP_011528145.1:p.Ser361=
XM_011529845.1:c.620C=	XP_011528147.1:p.Ser207=
XM_011529845.2:c.620C=	XP_011528147.1:p.Ser207=
XM_017028560.1:c.1406C=	XP_016884049.1:p.Ser469=
XM_017028561.2:c.620C=	XP_016884050.1:p.Ser207=
XM_024452148.1:c.1313C=	XP_024307916.1:p.Ser438=
XM_024452149.1:c.1226C=	XP_024307917.1:p.Ser409=
XR_937805.1:n.1442C=
XR_937805.2:n.1453C=