Canonical Allele Identifier: CA513945023

Gene: CHEK2

Linked Data

• dbSNP Id: rs1057521868
• MyVariant Identifiers: chr22:g.29095856G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699868G>T , CM000684.2:g.28699868G>T	GRCh38
NC_000022.10:g.29095856G>T , CM000684.1:g.29095856G>T	GRCh37
NC_000022.9:g.27425856G>T	NCBI36
NG_008150.1:g.46967C>A
NG_008150.2:g.46999C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.887C>A	ENSP00000396903.2:n.887C>A
ENST00000711048.1:c.978C>A	ENSP00000518557.1:p.Leu326=
ENST00000402731.6:c.777C>A	ENSP00000384835.2:p.Leu259=
ENST00000404276.6:c.978C>A MANE Select	ENSP00000385747.1:p.Leu326=
ENST00000425190.7:c.315C>A	ENSP00000390244.2:p.Leu105=
ENST00000464581.6:c.318C>A	ENSP00000483777.2:p.Leu106=
ENST00000648295.1:n.530C>A
ENST00000649563.1:c.315C>A	ENSP00000496928.1:p.Leu105=
ENST00000650281.1:c.978C>A	ENSP00000497000.1:p.Leu326=
ENST00000328354.10:c.978C>A	ENSP00000329178.6:p.Leu326=
ENST00000348295.7:c.978C>A	ENSP00000329012.5:p.Leu326=
ENST00000382580.6:c.1107C>A	ENSP00000372023.2:p.Leu369=
ENST00000402731.5:c.978C>A	ENSP00000384835.1:p.Leu326=
ENST00000403642.5:c.705C>A	ENSP00000384919.1:p.Leu235=
ENST00000404276.5:c.978C>A	ENSP00000385747.1:p.Leu326=
ENST00000405598.5:c.978C>A	ENSP00000386087.1:p.Leu326=
ENST00000416671.5:c.*468C>A	ENSP00000402225.1:n.*468C>A
ENST00000417588.5:c.887C>A	ENSP00000412901.1:n.887C>A
ENST00000425190.6:c.315C>A	ENSP00000390244.1:p.Leu105=
ENST00000433028.6:c.*703C>A	ENSP00000403659.1:n.*703C>A
ENST00000433728.5:c.916C>A	ENSP00000404400.1:n.916C>A
ENST00000434810.5:c.209C>A
ENST00000439346.5:c.449C>A	ENSP00000396903.1:n.449C>A
ENST00000447421.5:c.777C>A	ENSP00000397478.2:p.Leu259=
ENST00000448511.5:c.868C>A	ENSP00000404567.1:n.868C>A
ENST00000456369.5:c.233C>A
ENST00000464581.5:c.318C>A	ENSP00000483777.1:p.Leu106=
ENST00000491919.5:n.535C>A
NM_001005735.1:c.1107C>A	NP_001005735.1:p.Leu369=
NM_001257387.1:c.315C>A	NP_001244316.1:p.Leu105=
NM_007194.3:c.978C>A	NP_009125.1:p.Leu326=
NM_145862.2:c.978C>A	NP_665861.1:p.Leu326=
XM_006724114.2:c.498C>A	XP_006724177.1:p.Leu166=
XM_006724116.2:c.435C>A	XP_006724179.2:p.Leu145=
XM_011529839.1:c.1137C>A	XP_011528141.1:p.Leu379=
XM_011529840.1:c.1137C>A	XP_011528142.1:p.Leu379=
XM_011529841.1:c.906C>A	XP_011528143.1:p.Leu302=
XM_011529842.1:c.807C>A	XP_011528144.1:p.Leu269=
XM_011529843.1:c.777C>A	XP_011528145.1:p.Leu259=
XM_011529844.1:c.1137C>A	XP_011528146.1:p.Leu379=
XM_011529845.1:c.315C>A	XP_011528147.1:p.Leu105=
XR_937805.1:n.1137C>A
XR_937806.1:n.1132C>A
XR_937807.1:n.1132C>A
NM_001349956.1:c.777C>A	NP_001336885.1:p.Leu259=
NM_007194.4:c.978C>A MANE Select	NP_009125.1:p.Leu326=
XM_006724114.3:c.531C>A	XP_006724177.2:p.Leu177=
XM_011529839.2:c.1137C>A	XP_011528141.1:p.Leu379=
XM_011529840.3:c.1137C>A	XP_011528142.1:p.Leu379=
XM_011529842.2:c.807C>A	XP_011528144.1:p.Leu269=
XM_011529844.2:c.1137C>A	XP_011528146.1:p.Leu379=
XM_011529845.2:c.315C>A	XP_011528147.1:p.Leu105=
XM_017028560.1:c.1101C>A	XP_016884049.1:p.Leu367=
XM_017028561.2:c.315C>A	XP_016884050.1:p.Leu105=
XM_024452148.1:c.1008C>A	XP_024307916.1:p.Leu336=
XM_024452149.1:c.1008C>A	XP_024307917.1:p.Leu336=
XR_937805.2:n.1148C>A
XR_937806.2:n.1148C>A
XR_937807.2:n.1148C>A
NM_001005735.2:c.1107C>A	NP_001005735.1:p.Leu369=
NM_001257387.2:c.315C>A	NP_001244316.1:p.Leu105=
NM_001349956.2:c.777C>A	NP_001336885.1:p.Leu259=