Canonical Allele Identifier: CA411097495

Gene: CHEK2

Linked Data

• MyVariant Identifiers: chr22:g.29092900A>C (hg19) ; chr22:g.28696912A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696912A>C , CM000684.2:g.28696912A>C	GRCh38
NC_000022.10:g.29092900A>C , CM000684.1:g.29092900A>C	GRCh37
NC_000022.9:g.27422900A>C	NCBI36
NG_008150.1:g.49923T>G
NG_008150.2:g.49955T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-1670T>G	ENSP00000518557.1:n.1009-1670T>G
ENST00000402731.6:c.883T>G	ENSP00000384835.2:p.Cys295Gly
ENST00000404276.6:c.1084T>G MANE Select	ENSP00000385747.1:p.Cys362Gly
ENST00000425190.7:c.421T>G	ENSP00000390244.2:p.Cys141Gly
ENST00000464581.6:c.424T>G	ENSP00000483777.2:p.Cys142Gly
ENST00000648295.1:n.636T>G
ENST00000649563.1:c.421T>G	ENSP00000496928.1:p.Cys141Gly
ENST00000650281.1:c.1084T>G	ENSP00000497000.1:p.Cys362Gly
ENST00000328354.10:c.1084T>G	ENSP00000329178.6:p.Cys362Gly
ENST00000348295.7:c.1009-1039T>G	ENSP00000329012.5:n.1009-1039T>G
ENST00000382580.6:c.1213T>G	ENSP00000372023.2:p.Cys405Gly
ENST00000402731.5:c.1009-1039T>G	ENSP00000384835.1:n.1009-1039T>G
ENST00000403642.5:c.811T>G	ENSP00000384919.1:p.Cys271Gly
ENST00000404276.5:c.1084T>G	ENSP00000385747.1:p.Cys362Gly
ENST00000405598.5:c.1084T>G	ENSP00000386087.1:p.Cys362Gly
ENST00000416671.5:c.*574T>G	ENSP00000402225.1:n.*574T>G
ENST00000417588.5:c.993T>G	ENSP00000412901.1:n.993T>G
ENST00000433028.6:c.*809T>G	ENSP00000403659.1:n.*809T>G
ENST00000433728.5:c.1022T>G	ENSP00000404400.1:n.1022T>G
ENST00000434810.5:c.315T>G
ENST00000447421.5:c.883T>G	ENSP00000397478.2:p.Cys295Gly
ENST00000448511.5:c.974T>G	ENSP00000404567.1:n.974T>G
ENST00000456369.5:c.263+2926T>G
NM_001005735.1:c.1213T>G	NP_001005735.1:p.Cys405Gly
NM_001257387.1:c.421T>G	NP_001244316.1:p.Cys141Gly
NM_007194.3:c.1084T>G	NP_009125.1:p.Cys362Gly
NM_145862.2:c.1009-1039T>G	NP_665861.1:n.1009-1039T>G
XM_006724114.2:c.604T>G	XP_006724177.1:p.Cys202Gly
XM_006724116.2:c.541T>G	XP_006724179.2:p.Cys181Gly
XM_011529839.1:c.1243T>G	XP_011528141.1:p.Cys415Gly
XM_011529840.1:c.1168-1039T>G	XP_011528142.1:n.1168-1039T>G
XM_011529841.1:c.1012T>G	XP_011528143.1:p.Cys338Gly
XM_011529842.1:c.913T>G	XP_011528144.1:p.Cys305Gly
XM_011529843.1:c.883T>G	XP_011528145.1:p.Cys295Gly
XM_011529845.1:c.421T>G	XP_011528147.1:p.Cys141Gly
XR_937805.1:n.1243T>G
XR_937806.1:n.1163-1039T>G
NM_001349956.1:c.883T>G	NP_001336885.1:p.Cys295Gly
NM_007194.4:c.1084T>G MANE Select	NP_009125.1:p.Cys362Gly
XM_006724114.3:c.637T>G	XP_006724177.2:p.Cys213Gly
XM_011529839.2:c.1243T>G	XP_011528141.1:p.Cys415Gly
XM_011529840.3:c.1168-1039T>G	XP_011528142.1:n.1168-1039T>G
XM_011529842.2:c.913T>G	XP_011528144.1:p.Cys305Gly
XM_011529845.2:c.421T>G	XP_011528147.1:p.Cys141Gly
XM_017028560.1:c.1207T>G	XP_016884049.1:p.Cys403Gly
XM_017028561.2:c.421T>G	XP_016884050.1:p.Cys141Gly
XM_024452148.1:c.1114T>G	XP_024307916.1:p.Cys372Gly
XM_024452149.1:c.1039-1039T>G	XP_024307917.1:n.1039-1039T>G
XR_937805.2:n.1254T>G
XR_937806.2:n.1179-1039T>G
NM_001005735.2:c.1213T>G	NP_001005735.1:p.Cys405Gly
NM_001257387.2:c.421T>G	NP_001244316.1:p.Cys141Gly
NM_001349956.2:c.883T>G	NP_001336885.1:p.Cys295Gly