Canonical Allele Identifier: CA411097165

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 2711487
• ClinVar RCV Id: RCV003501325
• MyVariant Identifiers: chr22:g.29091852A>T (hg19) ; chr22:g.28695864A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695864A>T , CM000684.2:g.28695864A>T	GRCh38
NC_000022.10:g.29091852A>T , CM000684.1:g.29091852A>T	GRCh37
NC_000022.9:g.27421852A>T	NCBI36
NG_008150.1:g.50971T>A
NG_008150.2:g.51003T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-622T>A	ENSP00000518557.1:n.1009-622T>A
ENST00000402731.6:c.904T>A	ENSP00000384835.2:p.Phe302Ile
ENST00000404276.6:c.1105T>A MANE Select	ENSP00000385747.1:p.Phe369Ile
ENST00000425190.7:c.442T>A	ENSP00000390244.2:p.Phe148Ile
ENST00000464581.6:c.445T>A	ENSP00000483777.2:p.Phe149Ile
ENST00000648295.1:n.657T>A
ENST00000649563.1:c.442T>A	ENSP00000496928.1:p.Phe148Ile
ENST00000650281.1:c.1105T>A	ENSP00000497000.1:p.Phe369Ile
ENST00000328354.10:c.1105T>A	ENSP00000329178.6:p.Phe369Ile
ENST00000348295.7:c.1018T>A	ENSP00000329012.5:p.Phe340Ile
ENST00000382580.6:c.1234T>A	ENSP00000372023.2:p.Phe412Ile
ENST00000402731.5:c.1018T>A	ENSP00000384835.1:p.Phe340Ile
ENST00000403642.5:c.832T>A	ENSP00000384919.1:p.Phe278Ile
ENST00000404276.5:c.1105T>A	ENSP00000385747.1:p.Phe369Ile
ENST00000405598.5:c.1105T>A	ENSP00000386087.1:p.Phe369Ile
ENST00000416671.5:c.*595T>A	ENSP00000402225.1:n.*595T>A
ENST00000417588.5:c.1014T>A	ENSP00000412901.1:n.1014T>A
ENST00000433728.5:c.1043T>A	ENSP00000404400.1:n.1043T>A
ENST00000434810.5:c.336T>A
ENST00000448511.5:c.995T>A	ENSP00000404567.1:n.995T>A
ENST00000456369.5:c.263+3974T>A
NM_001005735.1:c.1234T>A	NP_001005735.1:p.Phe412Ile
NM_001257387.1:c.442T>A	NP_001244316.1:p.Phe148Ile
NM_007194.3:c.1105T>A	NP_009125.1:p.Phe369Ile
NM_145862.2:c.1018T>A	NP_665861.1:p.Phe340Ile
XM_006724114.2:c.625T>A	XP_006724177.1:p.Phe209Ile
XM_006724116.2:c.562T>A	XP_006724179.2:p.Phe188Ile
XM_011529839.1:c.1264T>A	XP_011528141.1:p.Phe422Ile
XM_011529840.1:c.1177T>A	XP_011528142.1:p.Phe393Ile
XM_011529841.1:c.1033T>A	XP_011528143.1:p.Phe345Ile
XM_011529842.1:c.934T>A	XP_011528144.1:p.Phe312Ile
XM_011529843.1:c.904T>A	XP_011528145.1:p.Phe302Ile
XM_011529845.1:c.442T>A	XP_011528147.1:p.Phe148Ile
XR_937805.1:n.1264T>A
XR_937806.1:n.1172T>A
NM_001349956.1:c.904T>A	NP_001336885.1:p.Phe302Ile
NM_007194.4:c.1105T>A MANE Select	NP_009125.1:p.Phe369Ile
XM_006724114.3:c.658T>A	XP_006724177.2:p.Phe220Ile
XM_011529839.2:c.1264T>A	XP_011528141.1:p.Phe422Ile
XM_011529840.3:c.1177T>A	XP_011528142.1:p.Phe393Ile
XM_011529842.2:c.934T>A	XP_011528144.1:p.Phe312Ile
XM_011529845.2:c.442T>A	XP_011528147.1:p.Phe148Ile
XM_017028560.1:c.1228T>A	XP_016884049.1:p.Phe410Ile
XM_017028561.2:c.442T>A	XP_016884050.1:p.Phe148Ile
XM_024452148.1:c.1135T>A	XP_024307916.1:p.Phe379Ile
XM_024452149.1:c.1048T>A	XP_024307917.1:p.Phe350Ile
XR_937805.2:n.1275T>A
XR_937806.2:n.1188T>A
NM_001005735.2:c.1234T>A	NP_001005735.1:p.Phe412Ile
NM_001257387.2:c.442T>A	NP_001244316.1:p.Phe148Ile
NM_001349956.2:c.904T>A	NP_001336885.1:p.Phe302Ile