Canonical Allele Identifier: CA411096738

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 489875
• ClinVar RCV Id: RCV000579833 ; RCV001240845
• dbSNP Id: rs1555913715
• MyVariant Identifiers: chr22:g.29091747A>T (hg19) ; chr22:g.28695759A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695759A>T , CM000684.2:g.28695759A>T	GRCh38
NC_000022.10:g.29091747A>T , CM000684.1:g.29091747A>T	GRCh37
NC_000022.9:g.27421747A>T	NCBI36
NG_008150.1:g.51076T>A
NG_008150.2:g.51108T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-517T>A	ENSP00000518557.1:n.1009-517T>A
ENST00000402731.6:c.1009T>A	ENSP00000384835.2:p.Tyr337Asn
ENST00000404276.6:c.1210T>A MANE Select	ENSP00000385747.1:p.Tyr404Asn
ENST00000425190.7:c.547T>A	ENSP00000390244.2:p.Tyr183Asn
ENST00000464581.6:c.550T>A	ENSP00000483777.2:p.Tyr184Asn
ENST00000648295.1:n.762T>A
ENST00000649563.1:c.547T>A	ENSP00000496928.1:p.Tyr183Asn
ENST00000650281.1:c.1210T>A	ENSP00000497000.1:p.Tyr404Asn
ENST00000328354.10:c.1210T>A	ENSP00000329178.6:p.Tyr404Asn
ENST00000348295.7:c.1123T>A	ENSP00000329012.5:p.Tyr375Asn
ENST00000382580.6:c.1339T>A	ENSP00000372023.2:p.Tyr447Asn
ENST00000402731.5:c.1123T>A	ENSP00000384835.1:p.Tyr375Asn
ENST00000403642.5:c.937T>A	ENSP00000384919.1:p.Tyr313Asn
ENST00000404276.5:c.1210T>A	ENSP00000385747.1:p.Tyr404Asn
ENST00000405598.5:c.1210T>A	ENSP00000386087.1:p.Tyr404Asn
ENST00000416671.5:c.*700T>A	ENSP00000402225.1:n.*700T>A
ENST00000417588.5:c.1119T>A	ENSP00000412901.1:n.1119T>A
ENST00000433728.5:c.1148T>A	ENSP00000404400.1:n.1148T>A
ENST00000434810.5:c.441T>A
ENST00000448511.5:c.1100T>A	ENSP00000404567.1:n.1100T>A
ENST00000456369.5:c.263+4079T>A
NM_001005735.1:c.1339T>A	NP_001005735.1:p.Tyr447Asn
NM_001257387.1:c.547T>A	NP_001244316.1:p.Tyr183Asn
NM_007194.3:c.1210T>A	NP_009125.1:p.Tyr404Asn
NM_145862.2:c.1123T>A	NP_665861.1:p.Tyr375Asn
XM_006724114.2:c.730T>A	XP_006724177.1:p.Tyr244Asn
XM_006724116.2:c.667T>A	XP_006724179.2:p.Tyr223Asn
XM_011529839.1:c.1369T>A	XP_011528141.1:p.Tyr457Asn
XM_011529840.1:c.1282T>A	XP_011528142.1:p.Tyr428Asn
XM_011529841.1:c.1138T>A	XP_011528143.1:p.Tyr380Asn
XM_011529842.1:c.1039T>A	XP_011528144.1:p.Tyr347Asn
XM_011529843.1:c.1009T>A	XP_011528145.1:p.Tyr337Asn
XM_011529845.1:c.547T>A	XP_011528147.1:p.Tyr183Asn
XR_937805.1:n.1369T>A
NM_001349956.1:c.1009T>A	NP_001336885.1:p.Tyr337Asn
NM_007194.4:c.1210T>A MANE Select	NP_009125.1:p.Tyr404Asn
XM_006724114.3:c.763T>A	XP_006724177.2:p.Tyr255Asn
XM_011529839.2:c.1369T>A	XP_011528141.1:p.Tyr457Asn
XM_011529840.3:c.1282T>A	XP_011528142.1:p.Tyr428Asn
XM_011529842.2:c.1039T>A	XP_011528144.1:p.Tyr347Asn
XM_011529845.2:c.547T>A	XP_011528147.1:p.Tyr183Asn
XM_017028560.1:c.1333T>A	XP_016884049.1:p.Tyr445Asn
XM_017028561.2:c.547T>A	XP_016884050.1:p.Tyr183Asn
XM_024452148.1:c.1240T>A	XP_024307916.1:p.Tyr414Asn
XM_024452149.1:c.1153T>A	XP_024307917.1:p.Tyr385Asn
XR_937805.2:n.1380T>A
NM_001005735.2:c.1339T>A	NP_001005735.1:p.Tyr447Asn
NM_001257387.2:c.547T>A	NP_001244316.1:p.Tyr183Asn
NM_001349956.2:c.1009T>A	NP_001336885.1:p.Tyr337Asn