Canonical Allele Identifier: CA513944867

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 1572574
• ClinVar RCV Id: RCV002219859
• dbSNP Id: rs2145802224
• gnomAD v4: 22-28695742-G-A
• MyVariant Identifiers: chr22:g.29091730G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695742G>A , CM000684.2:g.28695742G>A	GRCh38
NC_000022.10:g.29091730G>A , CM000684.1:g.29091730G>A	GRCh37
NC_000022.9:g.27421730G>A	NCBI36
NG_008150.1:g.51093C>T
NG_008150.2:g.51125C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-500C>T	ENSP00000518557.1:n.1009-500C>T
ENST00000402731.6:c.1026C>T	ENSP00000384835.2:p.Asp342=
ENST00000404276.6:c.1227C>T MANE Select	ENSP00000385747.1:p.Asp409=
ENST00000425190.7:c.564C>T	ENSP00000390244.2:p.Asp188=
ENST00000464581.6:c.567C>T	ENSP00000483777.2:p.Asp189=
ENST00000648295.1:n.779C>T
ENST00000649563.1:c.564C>T	ENSP00000496928.1:p.Asp188=
ENST00000650281.1:c.1227C>T	ENSP00000497000.1:p.Asp409=
ENST00000328354.10:c.1227C>T	ENSP00000329178.6:p.Asp409=
ENST00000348295.7:c.1140C>T	ENSP00000329012.5:p.Asp380=
ENST00000382580.6:c.1356C>T	ENSP00000372023.2:p.Asp452=
ENST00000402731.5:c.1140C>T	ENSP00000384835.1:p.Asp380=
ENST00000403642.5:c.954C>T	ENSP00000384919.1:p.Asp318=
ENST00000404276.5:c.1227C>T	ENSP00000385747.1:p.Asp409=
ENST00000405598.5:c.1227C>T	ENSP00000386087.1:p.Asp409=
ENST00000416671.5:c.*717C>T	ENSP00000402225.1:n.*717C>T
ENST00000417588.5:c.1136C>T	ENSP00000412901.1:n.1136C>T
ENST00000433728.5:c.1165C>T	ENSP00000404400.1:n.1165C>T
ENST00000434810.5:c.458C>T
ENST00000448511.5:c.1117C>T	ENSP00000404567.1:n.1117C>T
ENST00000456369.5:c.263+4096C>T
NM_001005735.1:c.1356C>T	NP_001005735.1:p.Asp452=
NM_001257387.1:c.564C>T	NP_001244316.1:p.Asp188=
NM_007194.3:c.1227C>T	NP_009125.1:p.Asp409=
NM_145862.2:c.1140C>T	NP_665861.1:p.Asp380=
XM_006724114.2:c.747C>T	XP_006724177.1:p.Asp249=
XM_006724116.2:c.684C>T	XP_006724179.2:p.Asp228=
XM_011529839.1:c.1386C>T	XP_011528141.1:p.Asp462=
XM_011529840.1:c.1299C>T	XP_011528142.1:p.Asp433=
XM_011529841.1:c.1155C>T	XP_011528143.1:p.Asp385=
XM_011529842.1:c.1056C>T	XP_011528144.1:p.Asp352=
XM_011529843.1:c.1026C>T	XP_011528145.1:p.Asp342=
XM_011529845.1:c.564C>T	XP_011528147.1:p.Asp188=
XR_937805.1:n.1386C>T
NM_001349956.1:c.1026C>T	NP_001336885.1:p.Asp342=
NM_007194.4:c.1227C>T MANE Select	NP_009125.1:p.Asp409=
XM_006724114.3:c.780C>T	XP_006724177.2:p.Asp260=
XM_011529839.2:c.1386C>T	XP_011528141.1:p.Asp462=
XM_011529840.3:c.1299C>T	XP_011528142.1:p.Asp433=
XM_011529842.2:c.1056C>T	XP_011528144.1:p.Asp352=
XM_011529845.2:c.564C>T	XP_011528147.1:p.Asp188=
XM_017028560.1:c.1350C>T	XP_016884049.1:p.Asp450=
XM_017028561.2:c.564C>T	XP_016884050.1:p.Asp188=
XM_024452148.1:c.1257C>T	XP_024307916.1:p.Asp419=
XM_024452149.1:c.1170C>T	XP_024307917.1:p.Asp390=
XR_937805.2:n.1397C>T
NM_001005735.2:c.1356C>T	NP_001005735.1:p.Asp452=
NM_001257387.2:c.564C>T	NP_001244316.1:p.Asp188=
NM_001349956.2:c.1026C>T	NP_001336885.1:p.Asp342=