Canonical Allele Identifier: CA513945003

Gene: CHEK2

Linked Data

• MyVariant Identifiers: chr22:g.29092970A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696982A>C , CM000684.2:g.28696982A>C	GRCh38
NC_000022.10:g.29092970A>C , CM000684.1:g.29092970A>C	GRCh37
NC_000022.9:g.27422970A>C	NCBI36
NG_008150.1:g.49853T>G
NG_008150.2:g.49885T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1740T>G	ENSP00000518557.1:n.1009-1740T>G
ENST00000402731.6:c.813T>G	ENSP00000384835.2:p.Leu271=
ENST00000404276.6:c.1014T>G MANE Select	ENSP00000385747.1:p.Leu338=
ENST00000425190.7:c.351T>G	ENSP00000390244.2:p.Leu117=
ENST00000464581.6:c.354T>G	ENSP00000483777.2:p.Leu118=
ENST00000648295.1:n.566T>G
ENST00000649563.1:c.351T>G	ENSP00000496928.1:p.Leu117=
ENST00000650281.1:c.1014T>G	ENSP00000497000.1:p.Leu338=
ENST00000328354.10:c.1014T>G	ENSP00000329178.6:p.Leu338=
ENST00000348295.7:c.1009-1109T>G	ENSP00000329012.5:n.1009-1109T>G
ENST00000382580.6:c.1143T>G	ENSP00000372023.2:p.Leu381=
ENST00000402731.5:c.1009-1109T>G	ENSP00000384835.1:n.1009-1109T>G
ENST00000403642.5:c.741T>G	ENSP00000384919.1:p.Leu247=
ENST00000404276.5:c.1014T>G	ENSP00000385747.1:p.Leu338=
ENST00000405598.5:c.1014T>G	ENSP00000386087.1:p.Leu338=
ENST00000416671.5:c.*504T>G	ENSP00000402225.1:n.*504T>G
ENST00000417588.5:c.923T>G	ENSP00000412901.1:n.923T>G
ENST00000425190.6:c.351T>G	ENSP00000390244.1:p.Leu117=
ENST00000433028.6:c.*739T>G	ENSP00000403659.1:n.*739T>G
ENST00000433728.5:c.952T>G	ENSP00000404400.1:n.952T>G
ENST00000434810.5:c.245T>G
ENST00000447421.5:c.813T>G	ENSP00000397478.2:p.Leu271=
ENST00000448511.5:c.904T>G	ENSP00000404567.1:n.904T>G
ENST00000456369.5:c.263+2856T>G
ENST00000464581.5:c.354T>G	ENSP00000483777.1:p.Leu118=
ENST00000491919.5:n.571T>G
NM_001005735.1:c.1143T>G	NP_001005735.1:p.Leu381=
NM_001257387.1:c.351T>G	NP_001244316.1:p.Leu117=
NM_007194.3:c.1014T>G	NP_009125.1:p.Leu338=
NM_145862.2:c.1009-1109T>G	NP_665861.1:n.1009-1109T>G
XM_006724114.2:c.534T>G	XP_006724177.1:p.Leu178=
XM_006724116.2:c.471T>G	XP_006724179.2:p.Leu157=
XM_011529839.1:c.1173T>G	XP_011528141.1:p.Leu391=
XM_011529840.1:c.1168-1109T>G	XP_011528142.1:n.1168-1109T>G
XM_011529841.1:c.942T>G	XP_011528143.1:p.Leu314=
XM_011529842.1:c.843T>G	XP_011528144.1:p.Leu281=
XM_011529843.1:c.813T>G	XP_011528145.1:p.Leu271=
XM_011529845.1:c.351T>G	XP_011528147.1:p.Leu117=
XR_937805.1:n.1173T>G
XR_937806.1:n.1163-1109T>G
NM_001349956.1:c.813T>G	NP_001336885.1:p.Leu271=
NM_007194.4:c.1014T>G MANE Select	NP_009125.1:p.Leu338=
XM_006724114.3:c.567T>G	XP_006724177.2:p.Leu189=
XM_011529839.2:c.1173T>G	XP_011528141.1:p.Leu391=
XM_011529840.3:c.1168-1109T>G	XP_011528142.1:n.1168-1109T>G
XM_011529842.2:c.843T>G	XP_011528144.1:p.Leu281=
XM_011529845.2:c.351T>G	XP_011528147.1:p.Leu117=
XM_017028560.1:c.1137T>G	XP_016884049.1:p.Leu379=
XM_017028561.2:c.351T>G	XP_016884050.1:p.Leu117=
XM_024452148.1:c.1044T>G	XP_024307916.1:p.Leu348=
XM_024452149.1:c.1039-1109T>G	XP_024307917.1:n.1039-1109T>G
XR_937805.2:n.1184T>G
XR_937806.2:n.1179-1109T>G
NM_001005735.2:c.1143T>G	NP_001005735.1:p.Leu381=
NM_001257387.2:c.351T>G	NP_001244316.1:p.Leu117=
NM_001349956.2:c.813T>G	NP_001336885.1:p.Leu271=