Canonical Allele Identifier: CA10167722

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695867C>T , CM000684.2:g.28695867C>T	GRCh38
NC_000022.10:g.29091855C>T , CM000684.1:g.29091855C>T	GRCh37
NC_000022.9:g.27421855C>T	NCBI36
NG_008150.1:g.50968G>A
NG_008150.2:g.51000G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007194.4:c.1102G>A MANE Select	NP_009125.1:p.Asp368Asn
ENST00000404276.6:c.1102G>A MANE Select	ENSP00000385747.1:p.Asp368Asn
NM_001005735.1:c.1231G>A	NP_001005735.1:p.Asp411Asn
NM_001005735.2:c.1231G>A	NP_001005735.1:p.Asp411Asn
NM_001257387.1:c.439G>A	NP_001244316.1:p.Asp147Asn
NM_001257387.2:c.439G>A	NP_001244316.1:p.Asp147Asn
NM_001349956.1:c.901G>A	NP_001336885.1:p.Asp301Asn
NM_001349956.2:c.901G>A	NP_001336885.1:p.Asp301Asn
NM_007194.3:c.1102G>A	NP_009125.1:p.Asp368Asn
NM_145862.2:c.1015G>A	NP_665861.1:p.Asp339Asn
ENST00000328354.10:c.1102G>A	ENSP00000329178.6:p.Asp368Asn
ENST00000348295.7:c.1015G>A	ENSP00000329012.5:p.Asp339Asn
ENST00000382580.6:c.1231G>A	ENSP00000372023.2:p.Asp411Asn
ENST00000402731.5:c.1015G>A	ENSP00000384835.1:p.Asp339Asn
ENST00000402731.6:c.901G>A	ENSP00000384835.2:p.Asp301Asn
ENST00000403642.5:c.829G>A	ENSP00000384919.1:p.Asp277Asn
ENST00000404276.5:c.1102G>A	ENSP00000385747.1:p.Asp368Asn
ENST00000405598.5:c.1102G>A	ENSP00000386087.1:p.Asp368Asn
ENST00000416671.5:c.*592G>A	ENSP00000402225.1:n.*592G>A
ENST00000417588.5:c.1011G>A	ENSP00000412901.1:n.1011G>A
ENST00000425190.7:c.439G>A	ENSP00000390244.2:p.Asp147Asn
ENST00000433728.5:c.1040G>A	ENSP00000404400.1:n.1040G>A
ENST00000434810.5:c.333G>A
ENST00000448511.5:c.992G>A	ENSP00000404567.1:n.992G>A
ENST00000456369.5:c.263+3971G>A
ENST00000464581.6:c.442G>A	ENSP00000483777.2:p.Asp148Asn
ENST00000648295.1:n.654G>A
ENST00000649563.1:c.439G>A	ENSP00000496928.1:p.Asp147Asn
ENST00000650281.1:c.1102G>A	ENSP00000497000.1:p.Asp368Asn
ENST00000711048.1:c.1009-625G>A	ENSP00000518557.1:n.1009-625G>A
XM_006724114.2:c.622G>A	XP_006724177.1:p.Asp208Asn
XM_006724114.3:c.655G>A	XP_006724177.2:p.Asp219Asn
XM_006724116.2:c.559G>A	XP_006724179.2:p.Asp187Asn
XM_011529839.1:c.1261G>A	XP_011528141.1:p.Asp421Asn
XM_011529839.2:c.1261G>A	XP_011528141.1:p.Asp421Asn
XM_011529840.1:c.1174G>A	XP_011528142.1:p.Asp392Asn
XM_011529840.3:c.1174G>A	XP_011528142.1:p.Asp392Asn
XM_011529841.1:c.1030G>A	XP_011528143.1:p.Asp344Asn
XM_011529842.1:c.931G>A	XP_011528144.1:p.Asp311Asn
XM_011529842.2:c.931G>A	XP_011528144.1:p.Asp311Asn
XM_011529843.1:c.901G>A	XP_011528145.1:p.Asp301Asn
XM_011529845.1:c.439G>A	XP_011528147.1:p.Asp147Asn
XM_011529845.2:c.439G>A	XP_011528147.1:p.Asp147Asn
XM_017028560.1:c.1225G>A	XP_016884049.1:p.Asp409Asn
XM_017028561.2:c.439G>A	XP_016884050.1:p.Asp147Asn
XM_024452148.1:c.1132G>A	XP_024307916.1:p.Asp378Asn
XM_024452149.1:c.1045G>A	XP_024307917.1:p.Asp349Asn
XR_937805.1:n.1261G>A
XR_937805.2:n.1272G>A
XR_937806.1:n.1169G>A
XR_937806.2:n.1185G>A