Canonical Allele Identifier: CA411097468

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 2745097
• ClinVar RCV Id: RCV003501913
• dbSNP Id: rs2145815695
• MyVariant Identifiers: chr22:g.29092896A>T (hg19) ; chr22:g.28696908A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696908A>T , CM000684.2:g.28696908A>T	GRCh38
NC_000022.10:g.29092896A>T , CM000684.1:g.29092896A>T	GRCh37
NC_000022.9:g.27422896A>T	NCBI36
NG_008150.1:g.49927T>A
NG_008150.2:g.49959T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-1666T>A	ENSP00000518557.1:n.1009-1666T>A
ENST00000402731.6:c.887T>A	ENSP00000384835.2:p.Leu296His
ENST00000404276.6:c.1088T>A MANE Select	ENSP00000385747.1:p.Leu363His
ENST00000425190.7:c.425T>A	ENSP00000390244.2:p.Leu142His
ENST00000464581.6:c.428T>A	ENSP00000483777.2:p.Leu143His
ENST00000648295.1:n.640T>A
ENST00000649563.1:c.425T>A	ENSP00000496928.1:p.Leu142His
ENST00000650281.1:c.1088T>A	ENSP00000497000.1:p.Leu363His
ENST00000328354.10:c.1088T>A	ENSP00000329178.6:p.Leu363His
ENST00000348295.7:c.1009-1035T>A	ENSP00000329012.5:n.1009-1035T>A
ENST00000382580.6:c.1217T>A	ENSP00000372023.2:p.Leu406His
ENST00000402731.5:c.1009-1035T>A	ENSP00000384835.1:n.1009-1035T>A
ENST00000403642.5:c.815T>A	ENSP00000384919.1:p.Leu272His
ENST00000404276.5:c.1088T>A	ENSP00000385747.1:p.Leu363His
ENST00000405598.5:c.1088T>A	ENSP00000386087.1:p.Leu363His
ENST00000416671.5:c.*578T>A	ENSP00000402225.1:n.*578T>A
ENST00000417588.5:c.997T>A	ENSP00000412901.1:n.997T>A
ENST00000433028.6:c.*813T>A	ENSP00000403659.1:n.*813T>A
ENST00000433728.5:c.1026T>A	ENSP00000404400.1:n.1026T>A
ENST00000434810.5:c.319T>A
ENST00000447421.5:c.887T>A	ENSP00000397478.2:p.Leu296His
ENST00000448511.5:c.978T>A	ENSP00000404567.1:n.978T>A
ENST00000456369.5:c.263+2930T>A
NM_001005735.1:c.1217T>A	NP_001005735.1:p.Leu406His
NM_001257387.1:c.425T>A	NP_001244316.1:p.Leu142His
NM_007194.3:c.1088T>A	NP_009125.1:p.Leu363His
NM_145862.2:c.1009-1035T>A	NP_665861.1:n.1009-1035T>A
XM_006724114.2:c.608T>A	XP_006724177.1:p.Leu203His
XM_006724116.2:c.545T>A	XP_006724179.2:p.Leu182His
XM_011529839.1:c.1247T>A	XP_011528141.1:p.Leu416His
XM_011529840.1:c.1168-1035T>A	XP_011528142.1:n.1168-1035T>A
XM_011529841.1:c.1016T>A	XP_011528143.1:p.Leu339His
XM_011529842.1:c.917T>A	XP_011528144.1:p.Leu306His
XM_011529843.1:c.887T>A	XP_011528145.1:p.Leu296His
XM_011529845.1:c.425T>A	XP_011528147.1:p.Leu142His
XR_937805.1:n.1247T>A
XR_937806.1:n.1163-1035T>A
NM_001349956.1:c.887T>A	NP_001336885.1:p.Leu296His
NM_007194.4:c.1088T>A MANE Select	NP_009125.1:p.Leu363His
XM_006724114.3:c.641T>A	XP_006724177.2:p.Leu214His
XM_011529839.2:c.1247T>A	XP_011528141.1:p.Leu416His
XM_011529840.3:c.1168-1035T>A	XP_011528142.1:n.1168-1035T>A
XM_011529842.2:c.917T>A	XP_011528144.1:p.Leu306His
XM_011529845.2:c.425T>A	XP_011528147.1:p.Leu142His
XM_017028560.1:c.1211T>A	XP_016884049.1:p.Leu404His
XM_017028561.2:c.425T>A	XP_016884050.1:p.Leu142His
XM_024452148.1:c.1118T>A	XP_024307916.1:p.Leu373His
XM_024452149.1:c.1039-1035T>A	XP_024307917.1:n.1039-1035T>A
XR_937805.2:n.1258T>A
XR_937806.2:n.1179-1035T>A
NM_001005735.2:c.1217T>A	NP_001005735.1:p.Leu406His
NM_001257387.2:c.425T>A	NP_001244316.1:p.Leu142His
NM_001349956.2:c.887T>A	NP_001336885.1:p.Leu296His