Canonical Allele Identifier: CA411099817

Gene: CHEK2

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699886T>G , CM000684.2:g.28699886T>G	GRCh38
NC_000022.10:g.29095874T>G , CM000684.1:g.29095874T>G	GRCh37
NC_000022.9:g.27425874T>G	NCBI36
NG_008150.1:g.46949A>C
NG_008150.2:g.46981A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.869A>C	ENSP00000396903.2:n.869A>C
ENST00000711048.1:c.960A>C	ENSP00000518557.1:p.Lys320Asn
ENST00000402731.6:c.759A>C	ENSP00000384835.2:p.Lys253Asn
ENST00000404276.6:c.960A>C MANE Select	ENSP00000385747.1:p.Lys320Asn
ENST00000425190.7:c.297A>C	ENSP00000390244.2:p.Lys99Asn
ENST00000464581.6:c.300A>C	ENSP00000483777.2:p.Lys100Asn
ENST00000648295.1:n.512A>C
ENST00000649563.1:c.297A>C	ENSP00000496928.1:p.Lys99Asn
ENST00000650281.1:c.960A>C	ENSP00000497000.1:p.Lys320Asn
ENST00000328354.10:c.960A>C	ENSP00000329178.6:p.Lys320Asn
ENST00000348295.7:c.960A>C	ENSP00000329012.5:p.Lys320Asn
ENST00000382580.6:c.1089A>C	ENSP00000372023.2:p.Lys363Asn
ENST00000402731.5:c.960A>C	ENSP00000384835.1:p.Lys320Asn
ENST00000403642.5:c.687A>C	ENSP00000384919.1:p.Lys229Asn
ENST00000404276.5:c.960A>C	ENSP00000385747.1:p.Lys320Asn
ENST00000405598.5:c.960A>C	ENSP00000386087.1:p.Lys320Asn
ENST00000416671.5:c.*450A>C	ENSP00000402225.1:n.*450A>C
ENST00000417588.5:c.869A>C	ENSP00000412901.1:n.869A>C
ENST00000425190.6:c.297A>C	ENSP00000390244.1:p.Lys99Asn
ENST00000433028.6:c.*685A>C	ENSP00000403659.1:n.*685A>C
ENST00000433728.5:c.898A>C	ENSP00000404400.1:n.898A>C
ENST00000434810.5:c.191A>C
ENST00000439346.5:c.431A>C	ENSP00000396903.1:n.431A>C
ENST00000447421.5:c.759A>C	ENSP00000397478.2:p.Lys253Asn
ENST00000448511.5:c.850A>C	ENSP00000404567.1:n.850A>C
ENST00000456369.5:c.215A>C
ENST00000464581.5:c.300A>C	ENSP00000483777.1:p.Lys100Asn
ENST00000491919.5:n.517A>C
NM_001005735.1:c.1089A>C	NP_001005735.1:p.Lys363Asn
NM_001257387.1:c.297A>C	NP_001244316.1:p.Lys99Asn
NM_007194.3:c.960A>C	NP_009125.1:p.Lys320Asn
NM_145862.2:c.960A>C	NP_665861.1:p.Lys320Asn
XM_006724114.2:c.480A>C	XP_006724177.1:p.Lys160Asn
XM_006724116.2:c.417A>C	XP_006724179.2:p.Lys139Asn
XM_011529839.1:c.1119A>C	XP_011528141.1:p.Lys373Asn
XM_011529840.1:c.1119A>C	XP_011528142.1:p.Lys373Asn
XM_011529841.1:c.888A>C	XP_011528143.1:p.Lys296Asn
XM_011529842.1:c.789A>C	XP_011528144.1:p.Lys263Asn
XM_011529843.1:c.759A>C	XP_011528145.1:p.Lys253Asn
XM_011529844.1:c.1119A>C	XP_011528146.1:p.Lys373Asn
XM_011529845.1:c.297A>C	XP_011528147.1:p.Lys99Asn
XR_937805.1:n.1119A>C
XR_937806.1:n.1114A>C
XR_937807.1:n.1114A>C
NM_001349956.1:c.759A>C	NP_001336885.1:p.Lys253Asn
NM_007194.4:c.960A>C MANE Select	NP_009125.1:p.Lys320Asn
XM_006724114.3:c.513A>C	XP_006724177.2:p.Lys171Asn
XM_011529839.2:c.1119A>C	XP_011528141.1:p.Lys373Asn
XM_011529840.3:c.1119A>C	XP_011528142.1:p.Lys373Asn
XM_011529842.2:c.789A>C	XP_011528144.1:p.Lys263Asn
XM_011529844.2:c.1119A>C	XP_011528146.1:p.Lys373Asn
XM_011529845.2:c.297A>C	XP_011528147.1:p.Lys99Asn
XM_017028560.1:c.1083A>C	XP_016884049.1:p.Lys361Asn
XM_017028561.2:c.297A>C	XP_016884050.1:p.Lys99Asn
XM_024452148.1:c.990A>C	XP_024307916.1:p.Lys330Asn
XM_024452149.1:c.990A>C	XP_024307917.1:p.Lys330Asn
XR_937805.2:n.1130A>C
XR_937806.2:n.1130A>C
XR_937807.2:n.1130A>C
NM_001005735.2:c.1089A>C	NP_001005735.1:p.Lys363Asn
NM_001257387.2:c.297A>C	NP_001244316.1:p.Lys99Asn
NM_001349956.2:c.759A>C	NP_001336885.1:p.Lys253Asn