Canonical Allele Identifier: CA10603693

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28689215C>T , CM000684.2:g.28689215C>T	GRCh38
NC_000022.10:g.29085203C>T , CM000684.1:g.29085203C>T	GRCh37
NC_000022.9:g.27415203C>T	NCBI36
NG_008150.1:g.57620G>A
NG_008150.2:g.57652G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*197G>A	ENSP00000518557.1:n.*197G>A
ENST00000402731.6:c.1261G>A	ENSP00000384835.2:p.Asp421Asn
ENST00000404276.6:c.1462G>A MANE Select	ENSP00000385747.1:p.Asp488Asn
ENST00000425190.7:c.799G>A	ENSP00000390244.2:p.Asp267Asn
ENST00000464581.6:c.802G>A	ENSP00000483777.2:p.Asp268Asn
ENST00000648295.1:n.1014G>A
ENST00000649563.1:c.799G>A	ENSP00000496928.1:p.Asp267Asn
ENST00000650281.1:c.1462G>A	ENSP00000497000.1:p.Asp488Asn
ENST00000328354.10:c.1462G>A	ENSP00000329178.6:p.Asp488Asn
ENST00000348295.7:c.1375G>A	ENSP00000329012.5:p.Asp459Asn
ENST00000382580.6:c.1591G>A	ENSP00000372023.2:p.Asp531Asn
ENST00000402731.5:c.1375G>A	ENSP00000384835.1:p.Asp459Asn
ENST00000403642.5:c.1189G>A	ENSP00000384919.1:p.Asp397Asn
ENST00000404276.5:c.1462G>A	ENSP00000385747.1:p.Asp488Asn
ENST00000405598.5:c.1462G>A	ENSP00000386087.1:p.Asp488Asn
ENST00000416671.5:c.*952G>A	ENSP00000402225.1:n.*952G>A
ENST00000417588.5:c.1371G>A	ENSP00000412901.1:n.1371G>A
ENST00000433728.5:c.1400G>A	ENSP00000404400.1:n.1400G>A
ENST00000434810.5:c.660G>A
ENST00000448511.5:c.1352G>A	ENSP00000404567.1:n.1352G>A
ENST00000456369.5:c.264G>A
ENST00000472807.1:n.196G>A
NM_001005735.1:c.1591G>A	NP_001005735.1:p.Asp531Asn
NM_001257387.1:c.799G>A	NP_001244316.1:p.Asp267Asn
NM_007194.3:c.1462G>A	NP_009125.1:p.Asp488Asn
NM_145862.2:c.1375G>A	NP_665861.1:p.Asp459Asn
XM_006724114.2:c.982G>A	XP_006724177.1:p.Asp328Asn
XM_006724116.2:c.919G>A	XP_006724179.2:p.Asp307Asn
XM_011529839.1:c.1621G>A	XP_011528141.1:p.Asp541Asn
XM_011529840.1:c.1534G>A	XP_011528142.1:p.Asp512Asn
XM_011529841.1:c.1390G>A	XP_011528143.1:p.Asp464Asn
XM_011529842.1:c.1291G>A	XP_011528144.1:p.Asp431Asn
XM_011529843.1:c.1261G>A	XP_011528145.1:p.Asp421Asn
XM_011529845.1:c.799G>A	XP_011528147.1:p.Asp267Asn
XR_937805.1:n.1621G>A
NM_001349956.1:c.1261G>A	NP_001336885.1:p.Asp421Asn
NM_007194.4:c.1462G>A MANE Select	NP_009125.1:p.Asp488Asn
XM_006724114.3:c.1015G>A	XP_006724177.2:p.Asp339Asn
XM_011529839.2:c.1621G>A	XP_011528141.1:p.Asp541Asn
XM_011529840.3:c.1534G>A	XP_011528142.1:p.Asp512Asn
XM_011529842.2:c.1291G>A	XP_011528144.1:p.Asp431Asn
XM_011529845.2:c.799G>A	XP_011528147.1:p.Asp267Asn
XM_017028560.1:c.1585G>A	XP_016884049.1:p.Asp529Asn
XM_017028561.2:c.799G>A	XP_016884050.1:p.Asp267Asn
XM_024452148.1:c.1492G>A	XP_024307916.1:p.Asp498Asn
XM_024452149.1:c.1405G>A	XP_024307917.1:p.Asp469Asn
XR_937805.2:n.1632G>A
NM_001005735.2:c.1591G>A	NP_001005735.1:p.Asp531Asn
NM_001257387.2:c.799G>A	NP_001244316.1:p.Asp267Asn
NM_001349956.2:c.1261G>A	NP_001336885.1:p.Asp421Asn