Canonical Allele Identifier: CA411099687

Gene: CHEK2

Linked Data

• dbSNP Id: rs1060502712
• gnomAD v4: 22-28699874-G-T
• MyVariant Identifiers: chr22:g.29095862G>T (hg19) ; chr22:g.28699874G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699874G>T , CM000684.2:g.28699874G>T	GRCh38
NC_000022.10:g.29095862G>T , CM000684.1:g.29095862G>T	GRCh37
NC_000022.9:g.27425862G>T	NCBI36
NG_008150.1:g.46961C>A
NG_008150.2:g.46993C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.881C>A	ENSP00000396903.2:n.881C>A
ENST00000711048.1:c.972C>A	ENSP00000518557.1:p.Cys324Ter
ENST00000402731.6:c.771C>A	ENSP00000384835.2:p.Cys257Ter
ENST00000404276.6:c.972C>A MANE Select	ENSP00000385747.1:p.Cys324Ter
ENST00000425190.7:c.309C>A	ENSP00000390244.2:p.Cys103Ter
ENST00000464581.6:c.312C>A	ENSP00000483777.2:p.Cys104Ter
ENST00000648295.1:n.524C>A
ENST00000649563.1:c.309C>A	ENSP00000496928.1:p.Cys103Ter
ENST00000650281.1:c.972C>A	ENSP00000497000.1:p.Cys324Ter
ENST00000328354.10:c.972C>A	ENSP00000329178.6:p.Cys324Ter
ENST00000348295.7:c.972C>A	ENSP00000329012.5:p.Cys324Ter
ENST00000382580.6:c.1101C>A	ENSP00000372023.2:p.Cys367Ter
ENST00000402731.5:c.972C>A	ENSP00000384835.1:p.Cys324Ter
ENST00000403642.5:c.699C>A	ENSP00000384919.1:p.Cys233Ter
ENST00000404276.5:c.972C>A	ENSP00000385747.1:p.Cys324Ter
ENST00000405598.5:c.972C>A	ENSP00000386087.1:p.Cys324Ter
ENST00000416671.5:c.*462C>A	ENSP00000402225.1:n.*462C>A
ENST00000417588.5:c.881C>A	ENSP00000412901.1:n.881C>A
ENST00000425190.6:c.309C>A	ENSP00000390244.1:p.Cys103Ter
ENST00000433028.6:c.*697C>A	ENSP00000403659.1:n.*697C>A
ENST00000433728.5:c.910C>A	ENSP00000404400.1:n.910C>A
ENST00000434810.5:c.203C>A
ENST00000439346.5:c.443C>A	ENSP00000396903.1:n.443C>A
ENST00000447421.5:c.771C>A	ENSP00000397478.2:p.Cys257Ter
ENST00000448511.5:c.862C>A	ENSP00000404567.1:n.862C>A
ENST00000456369.5:c.227C>A
ENST00000464581.5:c.312C>A	ENSP00000483777.1:p.Cys104Ter
ENST00000491919.5:n.529C>A
NM_001005735.1:c.1101C>A	NP_001005735.1:p.Cys367Ter
NM_001257387.1:c.309C>A	NP_001244316.1:p.Cys103Ter
NM_007194.3:c.972C>A	NP_009125.1:p.Cys324Ter
NM_145862.2:c.972C>A	NP_665861.1:p.Cys324Ter
XM_006724114.2:c.492C>A	XP_006724177.1:p.Cys164Ter
XM_006724116.2:c.429C>A	XP_006724179.2:p.Cys143Ter
XM_011529839.1:c.1131C>A	XP_011528141.1:p.Cys377Ter
XM_011529840.1:c.1131C>A	XP_011528142.1:p.Cys377Ter
XM_011529841.1:c.900C>A	XP_011528143.1:p.Cys300Ter
XM_011529842.1:c.801C>A	XP_011528144.1:p.Cys267Ter
XM_011529843.1:c.771C>A	XP_011528145.1:p.Cys257Ter
XM_011529844.1:c.1131C>A	XP_011528146.1:p.Cys377Ter
XM_011529845.1:c.309C>A	XP_011528147.1:p.Cys103Ter
XR_937805.1:n.1131C>A
XR_937806.1:n.1126C>A
XR_937807.1:n.1126C>A
NM_001349956.1:c.771C>A	NP_001336885.1:p.Cys257Ter
NM_007194.4:c.972C>A MANE Select	NP_009125.1:p.Cys324Ter
XM_006724114.3:c.525C>A	XP_006724177.2:p.Cys175Ter
XM_011529839.2:c.1131C>A	XP_011528141.1:p.Cys377Ter
XM_011529840.3:c.1131C>A	XP_011528142.1:p.Cys377Ter
XM_011529842.2:c.801C>A	XP_011528144.1:p.Cys267Ter
XM_011529844.2:c.1131C>A	XP_011528146.1:p.Cys377Ter
XM_011529845.2:c.309C>A	XP_011528147.1:p.Cys103Ter
XM_017028560.1:c.1095C>A	XP_016884049.1:p.Cys365Ter
XM_017028561.2:c.309C>A	XP_016884050.1:p.Cys103Ter
XM_024452148.1:c.1002C>A	XP_024307916.1:p.Cys334Ter
XM_024452149.1:c.1002C>A	XP_024307917.1:p.Cys334Ter
XR_937805.2:n.1142C>A
XR_937806.2:n.1142C>A
XR_937807.2:n.1142C>A
NM_001005735.2:c.1101C>A	NP_001005735.1:p.Cys367Ter
NM_001257387.2:c.309C>A	NP_001244316.1:p.Cys103Ter
NM_001349956.2:c.771C>A	NP_001336885.1:p.Cys257Ter