Canonical Allele Identifier: CA411102319

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28710017T>A , CM000684.2:g.28710017T>A	GRCh38
NC_000022.10:g.29106005T>A , CM000684.1:g.29106005T>A	GRCh37
NC_000022.9:g.27436005T>A	NCBI36
NG_008150.1:g.36818A>T
NG_008150.2:g.36850A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007194.4:c.835A>T MANE Select	NP_009125.1:p.Lys279Ter
ENST00000404276.6:c.835A>T MANE Select	ENSP00000385747.1:p.Lys279Ter
NM_001005735.1:c.964A>T	NP_001005735.1:p.Lys322Ter
NM_001005735.2:c.964A>T	NP_001005735.1:p.Lys322Ter
NM_001257387.1:c.172A>T	NP_001244316.1:p.Lys58Ter
NM_001257387.2:c.172A>T	NP_001244316.1:p.Lys58Ter
NM_001349956.1:c.634A>T	NP_001336885.1:p.Lys212Ter
NM_001349956.2:c.634A>T	NP_001336885.1:p.Lys212Ter
NM_007194.3:c.835A>T	NP_009125.1:p.Lys279Ter
NM_145862.2:c.835A>T	NP_665861.1:p.Lys279Ter
ENST00000328354.10:c.835A>T	ENSP00000329178.6:p.Lys279Ter
ENST00000348295.7:c.835A>T	ENSP00000329012.5:p.Lys279Ter
ENST00000382580.6:c.964A>T	ENSP00000372023.2:p.Lys322Ter
ENST00000402731.5:c.835A>T	ENSP00000384835.1:p.Lys279Ter
ENST00000402731.6:c.634A>T	ENSP00000384835.2:p.Lys212Ter
ENST00000403642.5:c.562A>T	ENSP00000384919.1:p.Lys188Ter
ENST00000404276.5:c.835A>T	ENSP00000385747.1:p.Lys279Ter
ENST00000405598.5:c.835A>T	ENSP00000386087.1:p.Lys279Ter
ENST00000416671.5:c.*325A>T	ENSP00000402225.1:n.*325A>T
ENST00000417588.5:c.744A>T	ENSP00000412901.1:n.744A>T
ENST00000425190.6:c.172A>T	ENSP00000390244.1:p.Lys58Ter
ENST00000425190.7:c.172A>T	ENSP00000390244.2:p.Lys58Ter
ENST00000433028.6:c.*560A>T	ENSP00000403659.1:n.*560A>T
ENST00000433728.5:c.835A>T	ENSP00000404400.1:p.Lys279Ter
ENST00000434810.5:c.66A>T
ENST00000439346.5:c.306A>T	ENSP00000396903.1:n.306A>T
ENST00000439346.6:c.744A>T	ENSP00000396903.2:n.744A>T
ENST00000447421.5:c.634A>T	ENSP00000397478.2:p.Lys212Ter
ENST00000448511.5:c.725A>T	ENSP00000404567.1:n.725A>T
ENST00000456369.5:c.90A>T
ENST00000464581.5:c.175A>T	ENSP00000483777.1:p.Lys59Ter
ENST00000464581.6:c.175A>T	ENSP00000483777.2:p.Lys59Ter
ENST00000491919.5:n.392A>T
ENST00000648295.1:n.387A>T
ENST00000649563.1:c.172A>T	ENSP00000496928.1:p.Lys58Ter
ENST00000650281.1:c.835A>T	ENSP00000497000.1:p.Lys279Ter
ENST00000711048.1:c.835A>T	ENSP00000518557.1:p.Lys279Ter
XM_006724114.2:c.355A>T	XP_006724177.1:p.Lys119Ter
XM_006724114.3:c.388A>T	XP_006724177.2:p.Lys130Ter
XM_006724116.2:c.292A>T	XP_006724179.2:p.Lys98Ter
XM_011529839.1:c.994A>T	XP_011528141.1:p.Lys332Ter
XM_011529839.2:c.994A>T	XP_011528141.1:p.Lys332Ter
XM_011529840.1:c.994A>T	XP_011528142.1:p.Lys332Ter
XM_011529840.3:c.994A>T	XP_011528142.1:p.Lys332Ter
XM_011529841.1:c.763A>T	XP_011528143.1:p.Lys255Ter
XM_011529842.1:c.664A>T	XP_011528144.1:p.Lys222Ter
XM_011529842.2:c.664A>T	XP_011528144.1:p.Lys222Ter
XM_011529843.1:c.634A>T	XP_011528145.1:p.Lys212Ter
XM_011529844.1:c.994A>T	XP_011528146.1:p.Lys332Ter
XM_011529844.2:c.994A>T	XP_011528146.1:p.Lys332Ter
XM_011529845.1:c.172A>T	XP_011528147.1:p.Lys58Ter
XM_011529845.2:c.172A>T	XP_011528147.1:p.Lys58Ter
XM_017028560.1:c.958A>T	XP_016884049.1:p.Lys320Ter
XM_017028561.2:c.172A>T	XP_016884050.1:p.Lys58Ter
XM_024452148.1:c.865A>T	XP_024307916.1:p.Lys289Ter
XM_024452149.1:c.865A>T	XP_024307917.1:p.Lys289Ter
XR_937805.1:n.1056A>T
XR_937805.2:n.1067A>T
XR_937806.1:n.1051A>T
XR_937806.2:n.1067A>T
XR_937807.1:n.1051A>T
XR_937807.2:n.1067A>T