Canonical Allele Identifier: CA10581028

Gene: CHEK2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694091C>T , CM000684.2:g.28694091C>T	GRCh38
NC_000022.10:g.29090079C>T , CM000684.1:g.29090079C>T	GRCh37
NC_000022.9:g.27420079C>T	NCBI36
NG_008150.1:g.52744G>A
NG_008150.2:g.52776G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*137G>A	ENSP00000518557.1:n.*137G>A
ENST00000402731.6:c.1201G>A	ENSP00000384835.2:p.Val401Ile
ENST00000404276.6:c.1402G>A MANE Select	ENSP00000385747.1:p.Val468Ile
ENST00000425190.7:c.739G>A	ENSP00000390244.2:p.Val247Ile
ENST00000464581.6:c.742G>A	ENSP00000483777.2:p.Val248Ile
ENST00000648295.1:n.954G>A
ENST00000649563.1:c.739G>A	ENSP00000496928.1:p.Val247Ile
ENST00000650281.1:c.1402G>A	ENSP00000497000.1:p.Val468Ile
ENST00000328354.10:c.1402G>A	ENSP00000329178.6:p.Val468Ile
ENST00000348295.7:c.1315G>A	ENSP00000329012.5:p.Val439Ile
ENST00000382580.6:c.1531G>A	ENSP00000372023.2:p.Val511Ile
ENST00000402731.5:c.1315G>A	ENSP00000384835.1:p.Val439Ile
ENST00000403642.5:c.1129G>A	ENSP00000384919.1:p.Val377Ile
ENST00000404276.5:c.1402G>A	ENSP00000385747.1:p.Val468Ile
ENST00000405598.5:c.1402G>A	ENSP00000386087.1:p.Val468Ile
ENST00000416671.5:c.*892G>A	ENSP00000402225.1:n.*892G>A
ENST00000417588.5:c.1311G>A	ENSP00000412901.1:n.1311G>A
ENST00000433728.5:c.1340G>A	ENSP00000404400.1:n.1340G>A
ENST00000434810.5:c.600G>A
ENST00000448511.5:c.1292G>A	ENSP00000404567.1:n.1292G>A
ENST00000456369.5:c.264-4876G>A
NM_001005735.1:c.1531G>A	NP_001005735.1:p.Val511Ile
NM_001257387.1:c.739G>A	NP_001244316.1:p.Val247Ile
NM_007194.3:c.1402G>A	NP_009125.1:p.Val468Ile
NM_145862.2:c.1315G>A	NP_665861.1:p.Val439Ile
XM_006724114.2:c.922G>A	XP_006724177.1:p.Val308Ile
XM_006724116.2:c.859G>A	XP_006724179.2:p.Val287Ile
XM_011529839.1:c.1561G>A	XP_011528141.1:p.Val521Ile
XM_011529840.1:c.1474G>A	XP_011528142.1:p.Val492Ile
XM_011529841.1:c.1330G>A	XP_011528143.1:p.Val444Ile
XM_011529842.1:c.1231G>A	XP_011528144.1:p.Val411Ile
XM_011529843.1:c.1201G>A	XP_011528145.1:p.Val401Ile
XM_011529845.1:c.739G>A	XP_011528147.1:p.Val247Ile
XR_937805.1:n.1561G>A
NM_001349956.1:c.1201G>A	NP_001336885.1:p.Val401Ile
NM_007194.4:c.1402G>A MANE Select	NP_009125.1:p.Val468Ile
XM_006724114.3:c.955G>A	XP_006724177.2:p.Val319Ile
XM_011529839.2:c.1561G>A	XP_011528141.1:p.Val521Ile
XM_011529840.3:c.1474G>A	XP_011528142.1:p.Val492Ile
XM_011529842.2:c.1231G>A	XP_011528144.1:p.Val411Ile
XM_011529845.2:c.739G>A	XP_011528147.1:p.Val247Ile
XM_017028560.1:c.1525G>A	XP_016884049.1:p.Val509Ile
XM_017028561.2:c.739G>A	XP_016884050.1:p.Val247Ile
XM_024452148.1:c.1432G>A	XP_024307916.1:p.Val478Ile
XM_024452149.1:c.1345G>A	XP_024307917.1:p.Val449Ile
XR_937805.2:n.1572G>A
NM_001005735.2:c.1531G>A	NP_001005735.1:p.Val511Ile
NM_001257387.2:c.739G>A	NP_001244316.1:p.Val247Ile
NM_001349956.2:c.1201G>A	NP_001336885.1:p.Val401Ile