Canonical Allele Identifier: CA2400238871

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696974T= , CM000684.2:g.28696974T=	GRCh38
NC_000022.10:g.29092962T= , CM000684.1:g.29092962T=	GRCh37
NC_000022.9:g.27422962T=	NCBI36
NG_008150.1:g.49861A=
NG_008150.2:g.49893A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1732A=	ENSP00000518557.1:n.1009-1732A=
ENST00000402731.6:c.821A=	ENSP00000384835.2:p.Asn274=
ENST00000404276.6:c.1022A= MANE Select	ENSP00000385747.1:p.Asn341=
ENST00000425190.7:c.359A=	ENSP00000390244.2:p.Asn120=
ENST00000464581.6:c.362A=	ENSP00000483777.2:p.Asn121=
ENST00000648295.1:n.574A=
ENST00000649563.1:c.359A=	ENSP00000496928.1:p.Asn120=
ENST00000650281.1:c.1022A=	ENSP00000497000.1:p.Asn341=
ENST00000328354.10:c.1022A=	ENSP00000329178.6:p.Asn341=
ENST00000348295.7:c.1009-1101A=	ENSP00000329012.5:n.1009-1101A=
ENST00000382580.6:c.1151A=	ENSP00000372023.2:p.Asn384=
ENST00000402731.5:c.1009-1101A=	ENSP00000384835.1:n.1009-1101A=
ENST00000403642.5:c.749A=	ENSP00000384919.1:p.Asn250=
ENST00000404276.5:c.1022A=	ENSP00000385747.1:p.Asn341=
ENST00000405598.5:c.1022A=	ENSP00000386087.1:p.Asn341=
ENST00000416671.5:c.*512A=	ENSP00000402225.1:n.*512A=
ENST00000417588.5:c.931A=	ENSP00000412901.1:n.931A=
ENST00000425190.6:c.359A=	ENSP00000390244.1:p.Asn120=
ENST00000433028.6:c.*747A=	ENSP00000403659.1:n.*747A=
ENST00000433728.5:c.960A=	ENSP00000404400.1:n.960A=
ENST00000434810.5:c.253A=
ENST00000447421.5:c.821A=	ENSP00000397478.2:p.Asn274=
ENST00000448511.5:c.912A=	ENSP00000404567.1:n.912A=
ENST00000456369.5:c.263+2864A=
ENST00000464581.5:c.362A=	ENSP00000483777.1:p.Asn121=
ENST00000491919.5:n.579A=
NM_001005735.1:c.1151A=	NP_001005735.1:p.Asn384=
NM_001257387.1:c.359A=	NP_001244316.1:p.Asn120=
NM_007194.3:c.1022A=	NP_009125.1:p.Asn341=
NM_145862.2:c.1009-1101A=	NP_665861.1:n.1009-1101A=
XM_006724114.2:c.542A=	XP_006724177.1:p.Asn181=
XM_006724116.2:c.479A=	XP_006724179.2:p.Asn160=
XM_011529839.1:c.1181A=	XP_011528141.1:p.Asn394=
XM_011529840.1:c.1168-1101A=	XP_011528142.1:n.1168-1101A=
XM_011529841.1:c.950A=	XP_011528143.1:p.Asn317=
XM_011529842.1:c.851A=	XP_011528144.1:p.Asn284=
XM_011529843.1:c.821A=	XP_011528145.1:p.Asn274=
XM_011529845.1:c.359A=	XP_011528147.1:p.Asn120=
XR_937805.1:n.1181A=
XR_937806.1:n.1163-1101A=
NM_001349956.1:c.821A=	NP_001336885.1:p.Asn274=
NM_007194.4:c.1022A= MANE Select	NP_009125.1:p.Asn341=
XM_006724114.3:c.575A=	XP_006724177.2:p.Asn192=
XM_011529839.2:c.1181A=	XP_011528141.1:p.Asn394=
XM_011529840.3:c.1168-1101A=	XP_011528142.1:n.1168-1101A=
XM_011529842.2:c.851A=	XP_011528144.1:p.Asn284=
XM_011529845.2:c.359A=	XP_011528147.1:p.Asn120=
XM_017028560.1:c.1145A=	XP_016884049.1:p.Asn382=
XM_017028561.2:c.359A=	XP_016884050.1:p.Asn120=
XM_024452148.1:c.1052A=	XP_024307916.1:p.Asn351=
XM_024452149.1:c.1039-1101A=	XP_024307917.1:n.1039-1101A=
XR_937805.2:n.1192A=
XR_937806.2:n.1179-1101A=
NM_001005735.2:c.1151A=	NP_001005735.1:p.Asn384=
NM_001257387.2:c.359A=	NP_001244316.1:p.Asn120=
NM_001349956.2:c.821A=	NP_001336885.1:p.Asn274=