Canonical Allele Identifier: CA513944886

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 2729577
• ClinVar RCV Id: RCV003501597
• MyVariant Identifiers: chr22:g.29091754A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695766A>C , CM000684.2:g.28695766A>C	GRCh38
NC_000022.10:g.29091754A>C , CM000684.1:g.29091754A>C	GRCh37
NC_000022.9:g.27421754A>C	NCBI36
NG_008150.1:g.51069T>G
NG_008150.2:g.51101T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-524T>G	ENSP00000518557.1:n.1009-524T>G
ENST00000402731.6:c.1002T>G	ENSP00000384835.2:p.Thr334=
ENST00000404276.6:c.1203T>G MANE Select	ENSP00000385747.1:p.Thr401=
ENST00000425190.7:c.540T>G	ENSP00000390244.2:p.Thr180=
ENST00000464581.6:c.543T>G	ENSP00000483777.2:p.Thr181=
ENST00000648295.1:n.755T>G
ENST00000649563.1:c.540T>G	ENSP00000496928.1:p.Thr180=
ENST00000650281.1:c.1203T>G	ENSP00000497000.1:p.Thr401=
ENST00000328354.10:c.1203T>G	ENSP00000329178.6:p.Thr401=
ENST00000348295.7:c.1116T>G	ENSP00000329012.5:p.Thr372=
ENST00000382580.6:c.1332T>G	ENSP00000372023.2:p.Thr444=
ENST00000402731.5:c.1116T>G	ENSP00000384835.1:p.Thr372=
ENST00000403642.5:c.930T>G	ENSP00000384919.1:p.Thr310=
ENST00000404276.5:c.1203T>G	ENSP00000385747.1:p.Thr401=
ENST00000405598.5:c.1203T>G	ENSP00000386087.1:p.Thr401=
ENST00000416671.5:c.*693T>G	ENSP00000402225.1:n.*693T>G
ENST00000417588.5:c.1112T>G	ENSP00000412901.1:n.1112T>G
ENST00000433728.5:c.1141T>G	ENSP00000404400.1:n.1141T>G
ENST00000434810.5:c.434T>G
ENST00000448511.5:c.1093T>G	ENSP00000404567.1:n.1093T>G
ENST00000456369.5:c.263+4072T>G
NM_001005735.1:c.1332T>G	NP_001005735.1:p.Thr444=
NM_001257387.1:c.540T>G	NP_001244316.1:p.Thr180=
NM_007194.3:c.1203T>G	NP_009125.1:p.Thr401=
NM_145862.2:c.1116T>G	NP_665861.1:p.Thr372=
XM_006724114.2:c.723T>G	XP_006724177.1:p.Thr241=
XM_006724116.2:c.660T>G	XP_006724179.2:p.Thr220=
XM_011529839.1:c.1362T>G	XP_011528141.1:p.Thr454=
XM_011529840.1:c.1275T>G	XP_011528142.1:p.Thr425=
XM_011529841.1:c.1131T>G	XP_011528143.1:p.Thr377=
XM_011529842.1:c.1032T>G	XP_011528144.1:p.Thr344=
XM_011529843.1:c.1002T>G	XP_011528145.1:p.Thr334=
XM_011529845.1:c.540T>G	XP_011528147.1:p.Thr180=
XR_937805.1:n.1362T>G
NM_001349956.1:c.1002T>G	NP_001336885.1:p.Thr334=
NM_007194.4:c.1203T>G MANE Select	NP_009125.1:p.Thr401=
XM_006724114.3:c.756T>G	XP_006724177.2:p.Thr252=
XM_011529839.2:c.1362T>G	XP_011528141.1:p.Thr454=
XM_011529840.3:c.1275T>G	XP_011528142.1:p.Thr425=
XM_011529842.2:c.1032T>G	XP_011528144.1:p.Thr344=
XM_011529845.2:c.540T>G	XP_011528147.1:p.Thr180=
XM_017028560.1:c.1326T>G	XP_016884049.1:p.Thr442=
XM_017028561.2:c.540T>G	XP_016884050.1:p.Thr180=
XM_024452148.1:c.1233T>G	XP_024307916.1:p.Thr411=
XM_024452149.1:c.1146T>G	XP_024307917.1:p.Thr382=
XR_937805.2:n.1373T>G
NM_001005735.2:c.1332T>G	NP_001005735.1:p.Thr444=
NM_001257387.2:c.540T>G	NP_001244316.1:p.Thr180=
NM_001349956.2:c.1002T>G	NP_001336885.1:p.Thr334=