Canonical Allele Identifier: CA411096831

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 958958
• ClinVar RCV Id: RCV001232222 ; RCV002327556
• dbSNP Id: rs2052558996
• MyVariant Identifiers: chr22:g.29091789A>T (hg19) ; chr22:g.28695801A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695801A>T , CM000684.2:g.28695801A>T	GRCh38
NC_000022.10:g.29091789A>T , CM000684.1:g.29091789A>T	GRCh37
NC_000022.9:g.27421789A>T	NCBI36
NG_008150.1:g.51034T>A
NG_008150.2:g.51066T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-559T>A	ENSP00000518557.1:n.1009-559T>A
ENST00000402731.6:c.967T>A	ENSP00000384835.2:p.Tyr323Asn
ENST00000404276.6:c.1168T>A MANE Select	ENSP00000385747.1:p.Tyr390Asn
ENST00000425190.7:c.505T>A	ENSP00000390244.2:p.Tyr169Asn
ENST00000464581.6:c.508T>A	ENSP00000483777.2:p.Tyr170Asn
ENST00000648295.1:n.720T>A
ENST00000649563.1:c.505T>A	ENSP00000496928.1:p.Tyr169Asn
ENST00000650281.1:c.1168T>A	ENSP00000497000.1:p.Tyr390Asn
ENST00000328354.10:c.1168T>A	ENSP00000329178.6:p.Tyr390Asn
ENST00000348295.7:c.1081T>A	ENSP00000329012.5:p.Tyr361Asn
ENST00000382580.6:c.1297T>A	ENSP00000372023.2:p.Tyr433Asn
ENST00000402731.5:c.1081T>A	ENSP00000384835.1:p.Tyr361Asn
ENST00000403642.5:c.895T>A	ENSP00000384919.1:p.Tyr299Asn
ENST00000404276.5:c.1168T>A	ENSP00000385747.1:p.Tyr390Asn
ENST00000405598.5:c.1168T>A	ENSP00000386087.1:p.Tyr390Asn
ENST00000416671.5:c.*658T>A	ENSP00000402225.1:n.*658T>A
ENST00000417588.5:c.1077T>A	ENSP00000412901.1:n.1077T>A
ENST00000433728.5:c.1106T>A	ENSP00000404400.1:n.1106T>A
ENST00000434810.5:c.399T>A
ENST00000448511.5:c.1058T>A	ENSP00000404567.1:n.1058T>A
ENST00000456369.5:c.263+4037T>A
NM_001005735.1:c.1297T>A	NP_001005735.1:p.Tyr433Asn
NM_001257387.1:c.505T>A	NP_001244316.1:p.Tyr169Asn
NM_007194.3:c.1168T>A	NP_009125.1:p.Tyr390Asn
NM_145862.2:c.1081T>A	NP_665861.1:p.Tyr361Asn
XM_006724114.2:c.688T>A	XP_006724177.1:p.Tyr230Asn
XM_006724116.2:c.625T>A	XP_006724179.2:p.Tyr209Asn
XM_011529839.1:c.1327T>A	XP_011528141.1:p.Tyr443Asn
XM_011529840.1:c.1240T>A	XP_011528142.1:p.Tyr414Asn
XM_011529841.1:c.1096T>A	XP_011528143.1:p.Tyr366Asn
XM_011529842.1:c.997T>A	XP_011528144.1:p.Tyr333Asn
XM_011529843.1:c.967T>A	XP_011528145.1:p.Tyr323Asn
XM_011529845.1:c.505T>A	XP_011528147.1:p.Tyr169Asn
XR_937805.1:n.1327T>A
XR_937806.1:n.1235T>A
NM_001349956.1:c.967T>A	NP_001336885.1:p.Tyr323Asn
NM_007194.4:c.1168T>A MANE Select	NP_009125.1:p.Tyr390Asn
XM_006724114.3:c.721T>A	XP_006724177.2:p.Tyr241Asn
XM_011529839.2:c.1327T>A	XP_011528141.1:p.Tyr443Asn
XM_011529840.3:c.1240T>A	XP_011528142.1:p.Tyr414Asn
XM_011529842.2:c.997T>A	XP_011528144.1:p.Tyr333Asn
XM_011529845.2:c.505T>A	XP_011528147.1:p.Tyr169Asn
XM_017028560.1:c.1291T>A	XP_016884049.1:p.Tyr431Asn
XM_017028561.2:c.505T>A	XP_016884050.1:p.Tyr169Asn
XM_024452148.1:c.1198T>A	XP_024307916.1:p.Tyr400Asn
XM_024452149.1:c.1111T>A	XP_024307917.1:p.Tyr371Asn
XR_937805.2:n.1338T>A
XR_937806.2:n.1251T>A
NM_001005735.2:c.1297T>A	NP_001005735.1:p.Tyr433Asn
NM_001257387.2:c.505T>A	NP_001244316.1:p.Tyr169Asn
NM_001349956.2:c.967T>A	NP_001336885.1:p.Tyr323Asn