Canonical Allele Identifier: CA411097503

Gene: CHEK2

Linked Data

• dbSNP Id: rs1327661553
• MyVariant Identifiers: chr22:g.29092902T>A (hg19) ; chr22:g.28696914T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696914T>A , CM000684.2:g.28696914T>A	GRCh38
NC_000022.10:g.29092902T>A , CM000684.1:g.29092902T>A	GRCh37
NC_000022.9:g.27422902T>A	NCBI36
NG_008150.1:g.49921A>T
NG_008150.2:g.49953A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1672A>T	ENSP00000518557.1:n.1009-1672A>T
ENST00000402731.6:c.881A>T	ENSP00000384835.2:p.Asp294Val
ENST00000404276.6:c.1082A>T MANE Select	ENSP00000385747.1:p.Asp361Val
ENST00000425190.7:c.419A>T	ENSP00000390244.2:p.Asp140Val
ENST00000464581.6:c.422A>T	ENSP00000483777.2:p.Asp141Val
ENST00000648295.1:n.634A>T
ENST00000649563.1:c.419A>T	ENSP00000496928.1:p.Asp140Val
ENST00000650281.1:c.1082A>T	ENSP00000497000.1:p.Asp361Val
ENST00000328354.10:c.1082A>T	ENSP00000329178.6:p.Asp361Val
ENST00000348295.7:c.1009-1041A>T	ENSP00000329012.5:n.1009-1041A>T
ENST00000382580.6:c.1211A>T	ENSP00000372023.2:p.Asp404Val
ENST00000402731.5:c.1009-1041A>T	ENSP00000384835.1:n.1009-1041A>T
ENST00000403642.5:c.809A>T	ENSP00000384919.1:p.Asp270Val
ENST00000404276.5:c.1082A>T	ENSP00000385747.1:p.Asp361Val
ENST00000405598.5:c.1082A>T	ENSP00000386087.1:p.Asp361Val
ENST00000416671.5:c.*572A>T	ENSP00000402225.1:n.*572A>T
ENST00000417588.5:c.991A>T	ENSP00000412901.1:n.991A>T
ENST00000433028.6:c.*807A>T	ENSP00000403659.1:n.*807A>T
ENST00000433728.5:c.1020A>T	ENSP00000404400.1:n.1020A>T
ENST00000434810.5:c.313A>T
ENST00000447421.5:c.881A>T	ENSP00000397478.2:p.Asp294Val
ENST00000448511.5:c.972A>T	ENSP00000404567.1:n.972A>T
ENST00000456369.5:c.263+2924A>T
NM_001005735.1:c.1211A>T	NP_001005735.1:p.Asp404Val
NM_001257387.1:c.419A>T	NP_001244316.1:p.Asp140Val
NM_007194.3:c.1082A>T	NP_009125.1:p.Asp361Val
NM_145862.2:c.1009-1041A>T	NP_665861.1:n.1009-1041A>T
XM_006724114.2:c.602A>T	XP_006724177.1:p.Asp201Val
XM_006724116.2:c.539A>T	XP_006724179.2:p.Asp180Val
XM_011529839.1:c.1241A>T	XP_011528141.1:p.Asp414Val
XM_011529840.1:c.1168-1041A>T	XP_011528142.1:n.1168-1041A>T
XM_011529841.1:c.1010A>T	XP_011528143.1:p.Asp337Val
XM_011529842.1:c.911A>T	XP_011528144.1:p.Asp304Val
XM_011529843.1:c.881A>T	XP_011528145.1:p.Asp294Val
XM_011529845.1:c.419A>T	XP_011528147.1:p.Asp140Val
XR_937805.1:n.1241A>T
XR_937806.1:n.1163-1041A>T
NM_001349956.1:c.881A>T	NP_001336885.1:p.Asp294Val
NM_007194.4:c.1082A>T MANE Select	NP_009125.1:p.Asp361Val
XM_006724114.3:c.635A>T	XP_006724177.2:p.Asp212Val
XM_011529839.2:c.1241A>T	XP_011528141.1:p.Asp414Val
XM_011529840.3:c.1168-1041A>T	XP_011528142.1:n.1168-1041A>T
XM_011529842.2:c.911A>T	XP_011528144.1:p.Asp304Val
XM_011529845.2:c.419A>T	XP_011528147.1:p.Asp140Val
XM_017028560.1:c.1205A>T	XP_016884049.1:p.Asp402Val
XM_017028561.2:c.419A>T	XP_016884050.1:p.Asp140Val
XM_024452148.1:c.1112A>T	XP_024307916.1:p.Asp371Val
XM_024452149.1:c.1039-1041A>T	XP_024307917.1:n.1039-1041A>T
XR_937805.2:n.1252A>T
XR_937806.2:n.1179-1041A>T
NM_001005735.2:c.1211A>T	NP_001005735.1:p.Asp404Val
NM_001257387.2:c.419A>T	NP_001244316.1:p.Asp140Val
NM_001349956.2:c.881A>T	NP_001336885.1:p.Asp294Val