Canonical Allele Identifier: CA411097766

Gene: CHEK2

Linked Data

• MyVariant Identifiers: chr22:g.29092953A>T (hg19) ; chr22:g.28696965A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696965A>T , CM000684.2:g.28696965A>T	GRCh38
NC_000022.10:g.29092953A>T , CM000684.1:g.29092953A>T	GRCh37
NC_000022.9:g.27422953A>T	NCBI36
NG_008150.1:g.49870T>A
NG_008150.2:g.49902T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1723T>A	ENSP00000518557.1:n.1009-1723T>A
ENST00000402731.6:c.830T>A	ENSP00000384835.2:p.Ile277Lys
ENST00000404276.6:c.1031T>A MANE Select	ENSP00000385747.1:p.Ile344Lys
ENST00000425190.7:c.368T>A	ENSP00000390244.2:p.Ile123Lys
ENST00000464581.6:c.371T>A	ENSP00000483777.2:p.Ile124Lys
ENST00000648295.1:n.583T>A
ENST00000649563.1:c.368T>A	ENSP00000496928.1:p.Ile123Lys
ENST00000650281.1:c.1031T>A	ENSP00000497000.1:p.Ile344Lys
ENST00000328354.10:c.1031T>A	ENSP00000329178.6:p.Ile344Lys
ENST00000348295.7:c.1009-1092T>A	ENSP00000329012.5:n.1009-1092T>A
ENST00000382580.6:c.1160T>A	ENSP00000372023.2:p.Ile387Lys
ENST00000402731.5:c.1009-1092T>A	ENSP00000384835.1:n.1009-1092T>A
ENST00000403642.5:c.758T>A	ENSP00000384919.1:p.Ile253Lys
ENST00000404276.5:c.1031T>A	ENSP00000385747.1:p.Ile344Lys
ENST00000405598.5:c.1031T>A	ENSP00000386087.1:p.Ile344Lys
ENST00000416671.5:c.*521T>A	ENSP00000402225.1:n.*521T>A
ENST00000417588.5:c.940T>A	ENSP00000412901.1:n.940T>A
ENST00000433028.6:c.*756T>A	ENSP00000403659.1:n.*756T>A
ENST00000433728.5:c.969T>A	ENSP00000404400.1:n.969T>A
ENST00000434810.5:c.262T>A
ENST00000447421.5:c.830T>A	ENSP00000397478.2:p.Ile277Lys
ENST00000448511.5:c.921T>A	ENSP00000404567.1:n.921T>A
ENST00000456369.5:c.263+2873T>A
ENST00000464581.5:c.371T>A	ENSP00000483777.1:p.Ile124Lys
ENST00000491919.5:n.588T>A
NM_001005735.1:c.1160T>A	NP_001005735.1:p.Ile387Lys
NM_001257387.1:c.368T>A	NP_001244316.1:p.Ile123Lys
NM_007194.3:c.1031T>A	NP_009125.1:p.Ile344Lys
NM_145862.2:c.1009-1092T>A	NP_665861.1:n.1009-1092T>A
XM_006724114.2:c.551T>A	XP_006724177.1:p.Ile184Lys
XM_006724116.2:c.488T>A	XP_006724179.2:p.Ile163Lys
XM_011529839.1:c.1190T>A	XP_011528141.1:p.Ile397Lys
XM_011529840.1:c.1168-1092T>A	XP_011528142.1:n.1168-1092T>A
XM_011529841.1:c.959T>A	XP_011528143.1:p.Ile320Lys
XM_011529842.1:c.860T>A	XP_011528144.1:p.Ile287Lys
XM_011529843.1:c.830T>A	XP_011528145.1:p.Ile277Lys
XM_011529845.1:c.368T>A	XP_011528147.1:p.Ile123Lys
XR_937805.1:n.1190T>A
XR_937806.1:n.1163-1092T>A
NM_001349956.1:c.830T>A	NP_001336885.1:p.Ile277Lys
NM_007194.4:c.1031T>A MANE Select	NP_009125.1:p.Ile344Lys
XM_006724114.3:c.584T>A	XP_006724177.2:p.Ile195Lys
XM_011529839.2:c.1190T>A	XP_011528141.1:p.Ile397Lys
XM_011529840.3:c.1168-1092T>A	XP_011528142.1:n.1168-1092T>A
XM_011529842.2:c.860T>A	XP_011528144.1:p.Ile287Lys
XM_011529845.2:c.368T>A	XP_011528147.1:p.Ile123Lys
XM_017028560.1:c.1154T>A	XP_016884049.1:p.Ile385Lys
XM_017028561.2:c.368T>A	XP_016884050.1:p.Ile123Lys
XM_024452148.1:c.1061T>A	XP_024307916.1:p.Ile354Lys
XM_024452149.1:c.1039-1092T>A	XP_024307917.1:n.1039-1092T>A
XR_937805.2:n.1201T>A
XR_937806.2:n.1179-1092T>A
NM_001005735.2:c.1160T>A	NP_001005735.1:p.Ile387Lys
NM_001257387.2:c.368T>A	NP_001244316.1:p.Ile123Lys
NM_001349956.2:c.830T>A	NP_001336885.1:p.Ile277Lys