Canonical Allele Identifier: CA411097541

Gene: CHEK2

Linked Data

• MyVariant Identifiers: chr22:g.29092907T>A (hg19) ; chr22:g.28696919T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696919T>A , CM000684.2:g.28696919T>A	GRCh38
NC_000022.10:g.29092907T>A , CM000684.1:g.29092907T>A	GRCh37
NC_000022.9:g.27422907T>A	NCBI36
NG_008150.1:g.49916A>T
NG_008150.2:g.49948A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1677A>T	ENSP00000518557.1:n.1009-1677A>T
ENST00000402731.6:c.876A>T	ENSP00000384835.2:p.Glu292Asp
ENST00000404276.6:c.1077A>T MANE Select	ENSP00000385747.1:p.Glu359Asp
ENST00000425190.7:c.414A>T	ENSP00000390244.2:p.Glu138Asp
ENST00000464581.6:c.417A>T	ENSP00000483777.2:p.Glu139Asp
ENST00000648295.1:n.629A>T
ENST00000649563.1:c.414A>T	ENSP00000496928.1:p.Glu138Asp
ENST00000650281.1:c.1077A>T	ENSP00000497000.1:p.Glu359Asp
ENST00000328354.10:c.1077A>T	ENSP00000329178.6:p.Glu359Asp
ENST00000348295.7:c.1009-1046A>T	ENSP00000329012.5:n.1009-1046A>T
ENST00000382580.6:c.1206A>T	ENSP00000372023.2:p.Glu402Asp
ENST00000402731.5:c.1009-1046A>T	ENSP00000384835.1:n.1009-1046A>T
ENST00000403642.5:c.804A>T	ENSP00000384919.1:p.Glu268Asp
ENST00000404276.5:c.1077A>T	ENSP00000385747.1:p.Glu359Asp
ENST00000405598.5:c.1077A>T	ENSP00000386087.1:p.Glu359Asp
ENST00000416671.5:c.*567A>T	ENSP00000402225.1:n.*567A>T
ENST00000417588.5:c.986A>T	ENSP00000412901.1:n.986A>T
ENST00000433028.6:c.*802A>T	ENSP00000403659.1:n.*802A>T
ENST00000433728.5:c.1015A>T	ENSP00000404400.1:n.1015A>T
ENST00000434810.5:c.308A>T
ENST00000447421.5:c.876A>T	ENSP00000397478.2:p.Glu292Asp
ENST00000448511.5:c.967A>T	ENSP00000404567.1:n.967A>T
ENST00000456369.5:c.263+2919A>T
NM_001005735.1:c.1206A>T	NP_001005735.1:p.Glu402Asp
NM_001257387.1:c.414A>T	NP_001244316.1:p.Glu138Asp
NM_007194.3:c.1077A>T	NP_009125.1:p.Glu359Asp
NM_145862.2:c.1009-1046A>T	NP_665861.1:n.1009-1046A>T
XM_006724114.2:c.597A>T	XP_006724177.1:p.Glu199Asp
XM_006724116.2:c.534A>T	XP_006724179.2:p.Glu178Asp
XM_011529839.1:c.1236A>T	XP_011528141.1:p.Glu412Asp
XM_011529840.1:c.1168-1046A>T	XP_011528142.1:n.1168-1046A>T
XM_011529841.1:c.1005A>T	XP_011528143.1:p.Glu335Asp
XM_011529842.1:c.906A>T	XP_011528144.1:p.Glu302Asp
XM_011529843.1:c.876A>T	XP_011528145.1:p.Glu292Asp
XM_011529845.1:c.414A>T	XP_011528147.1:p.Glu138Asp
XR_937805.1:n.1236A>T
XR_937806.1:n.1163-1046A>T
NM_001349956.1:c.876A>T	NP_001336885.1:p.Glu292Asp
NM_007194.4:c.1077A>T MANE Select	NP_009125.1:p.Glu359Asp
XM_006724114.3:c.630A>T	XP_006724177.2:p.Glu210Asp
XM_011529839.2:c.1236A>T	XP_011528141.1:p.Glu412Asp
XM_011529840.3:c.1168-1046A>T	XP_011528142.1:n.1168-1046A>T
XM_011529842.2:c.906A>T	XP_011528144.1:p.Glu302Asp
XM_011529845.2:c.414A>T	XP_011528147.1:p.Glu138Asp
XM_017028560.1:c.1200A>T	XP_016884049.1:p.Glu400Asp
XM_017028561.2:c.414A>T	XP_016884050.1:p.Glu138Asp
XM_024452148.1:c.1107A>T	XP_024307916.1:p.Glu369Asp
XM_024452149.1:c.1039-1046A>T	XP_024307917.1:n.1039-1046A>T
XR_937805.2:n.1247A>T
XR_937806.2:n.1179-1046A>T
NM_001005735.2:c.1206A>T	NP_001005735.1:p.Glu402Asp
NM_001257387.2:c.414A>T	NP_001244316.1:p.Glu138Asp
NM_001349956.2:c.876A>T	NP_001336885.1:p.Glu292Asp