Canonical Allele Identifier: CA411093942

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694039C>T , CM000684.2:g.28694039C>T	GRCh38
NC_000022.10:g.29090027C>T , CM000684.1:g.29090027C>T	GRCh37
NC_000022.9:g.27420027C>T	NCBI36
NG_008150.1:g.52796G>A
NG_008150.2:g.52828G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007194.4:c.1454G>A MANE Select	NP_009125.1:p.Trp485Ter
ENST00000404276.6:c.1454G>A MANE Select	ENSP00000385747.1:p.Trp485Ter
NM_001005735.1:c.1583G>A	NP_001005735.1:p.Trp528Ter
NM_001005735.2:c.1583G>A	NP_001005735.1:p.Trp528Ter
NM_001257387.1:c.791G>A	NP_001244316.1:p.Trp264Ter
NM_001257387.2:c.791G>A	NP_001244316.1:p.Trp264Ter
NM_001349956.1:c.1253G>A	NP_001336885.1:p.Trp418Ter
NM_001349956.2:c.1253G>A	NP_001336885.1:p.Trp418Ter
NM_007194.3:c.1454G>A	NP_009125.1:p.Trp485Ter
NM_145862.2:c.1367G>A	NP_665861.1:p.Trp456Ter
ENST00000328354.10:c.1454G>A	ENSP00000329178.6:p.Trp485Ter
ENST00000348295.7:c.1367G>A	ENSP00000329012.5:p.Trp456Ter
ENST00000382580.6:c.1583G>A	ENSP00000372023.2:p.Trp528Ter
ENST00000402731.5:c.1367G>A	ENSP00000384835.1:p.Trp456Ter
ENST00000402731.6:c.1253G>A	ENSP00000384835.2:p.Trp418Ter
ENST00000403642.5:c.1181G>A	ENSP00000384919.1:p.Trp394Ter
ENST00000404276.5:c.1454G>A	ENSP00000385747.1:p.Trp485Ter
ENST00000405598.5:c.1454G>A	ENSP00000386087.1:p.Trp485Ter
ENST00000416671.5:c.*944G>A	ENSP00000402225.1:n.*944G>A
ENST00000417588.5:c.1363G>A	ENSP00000412901.1:n.1363G>A
ENST00000425190.7:c.791G>A	ENSP00000390244.2:p.Trp264Ter
ENST00000433728.5:c.1392G>A	ENSP00000404400.1:n.1392G>A
ENST00000434810.5:c.652G>A
ENST00000448511.5:c.1344G>A	ENSP00000404567.1:n.1344G>A
ENST00000456369.5:c.264-4824G>A
ENST00000464581.6:c.794G>A	ENSP00000483777.2:p.Trp265Ter
ENST00000648295.1:n.1006G>A
ENST00000649563.1:c.791G>A	ENSP00000496928.1:p.Trp264Ter
ENST00000650281.1:c.1454G>A	ENSP00000497000.1:p.Trp485Ter
ENST00000711048.1:c.*189G>A	ENSP00000518557.1:n.*189G>A
XM_006724114.2:c.974G>A	XP_006724177.1:p.Trp325Ter
XM_006724114.3:c.1007G>A	XP_006724177.2:p.Trp336Ter
XM_006724116.2:c.911G>A	XP_006724179.2:p.Trp304Ter
XM_011529839.1:c.1613G>A	XP_011528141.1:p.Trp538Ter
XM_011529839.2:c.1613G>A	XP_011528141.1:p.Trp538Ter
XM_011529840.1:c.1526G>A	XP_011528142.1:p.Trp509Ter
XM_011529840.3:c.1526G>A	XP_011528142.1:p.Trp509Ter
XM_011529841.1:c.1382G>A	XP_011528143.1:p.Trp461Ter
XM_011529842.1:c.1283G>A	XP_011528144.1:p.Trp428Ter
XM_011529842.2:c.1283G>A	XP_011528144.1:p.Trp428Ter
XM_011529843.1:c.1253G>A	XP_011528145.1:p.Trp418Ter
XM_011529845.1:c.791G>A	XP_011528147.1:p.Trp264Ter
XM_011529845.2:c.791G>A	XP_011528147.1:p.Trp264Ter
XM_017028560.1:c.1577G>A	XP_016884049.1:p.Trp526Ter
XM_017028561.2:c.791G>A	XP_016884050.1:p.Trp264Ter
XM_024452148.1:c.1484G>A	XP_024307916.1:p.Trp495Ter
XM_024452149.1:c.1397G>A	XP_024307917.1:p.Trp466Ter
XR_937805.1:n.1613G>A
XR_937805.2:n.1624G>A