Canonical Allele Identifier: CA411096737

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 835143
• ClinVar RCV Id: RCV001035962
• dbSNP Id: rs1555913715
• MyVariant Identifiers: chr22:g.29091747A>G (hg19) ; chr22:g.28695759A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-517T>C	ENSP00000518557.1:n.1009-517T>C
ENST00000402731.6:c.1009T>C	ENSP00000384835.2:p.Tyr337His
ENST00000404276.6:c.1210T>C MANE Select	ENSP00000385747.1:p.Tyr404His
ENST00000425190.7:c.547T>C	ENSP00000390244.2:p.Tyr183His
ENST00000464581.6:c.550T>C	ENSP00000483777.2:p.Tyr184His
ENST00000648295.1:n.762T>C
ENST00000649563.1:c.547T>C	ENSP00000496928.1:p.Tyr183His
ENST00000650281.1:c.1210T>C	ENSP00000497000.1:p.Tyr404His
ENST00000328354.10:c.1210T>C	ENSP00000329178.6:p.Tyr404His
ENST00000348295.7:c.1123T>C	ENSP00000329012.5:p.Tyr375His
ENST00000382580.6:c.1339T>C	ENSP00000372023.2:p.Tyr447His
ENST00000402731.5:c.1123T>C	ENSP00000384835.1:p.Tyr375His
ENST00000403642.5:c.937T>C	ENSP00000384919.1:p.Tyr313His
ENST00000404276.5:c.1210T>C	ENSP00000385747.1:p.Tyr404His
ENST00000405598.5:c.1210T>C	ENSP00000386087.1:p.Tyr404His
ENST00000416671.5:c.*700T>C	ENSP00000402225.1:n.*700T>C
ENST00000417588.5:c.1119T>C	ENSP00000412901.1:n.1119T>C
ENST00000433728.5:c.1148T>C	ENSP00000404400.1:n.1148T>C
ENST00000434810.5:c.441T>C
ENST00000448511.5:c.1100T>C	ENSP00000404567.1:n.1100T>C
ENST00000456369.5:c.263+4079T>C
NM_001005735.1:c.1339T>C	NP_001005735.1:p.Tyr447His
NM_001257387.1:c.547T>C	NP_001244316.1:p.Tyr183His
NM_007194.3:c.1210T>C	NP_009125.1:p.Tyr404His
NM_145862.2:c.1123T>C	NP_665861.1:p.Tyr375His
XM_006724114.2:c.730T>C	XP_006724177.1:p.Tyr244His
XM_006724116.2:c.667T>C	XP_006724179.2:p.Tyr223His
XM_011529839.1:c.1369T>C	XP_011528141.1:p.Tyr457His
XM_011529840.1:c.1282T>C	XP_011528142.1:p.Tyr428His
XM_011529841.1:c.1138T>C	XP_011528143.1:p.Tyr380His
XM_011529842.1:c.1039T>C	XP_011528144.1:p.Tyr347His
XM_011529843.1:c.1009T>C	XP_011528145.1:p.Tyr337His
XM_011529845.1:c.547T>C	XP_011528147.1:p.Tyr183His
XR_937805.1:n.1369T>C
NM_001349956.1:c.1009T>C	NP_001336885.1:p.Tyr337His
NM_007194.4:c.1210T>C MANE Select	NP_009125.1:p.Tyr404His
XM_006724114.3:c.763T>C	XP_006724177.2:p.Tyr255His
XM_011529839.2:c.1369T>C	XP_011528141.1:p.Tyr457His
XM_011529840.3:c.1282T>C	XP_011528142.1:p.Tyr428His
XM_011529842.2:c.1039T>C	XP_011528144.1:p.Tyr347His
XM_011529845.2:c.547T>C	XP_011528147.1:p.Tyr183His
XM_017028560.1:c.1333T>C	XP_016884049.1:p.Tyr445His
XM_017028561.2:c.547T>C	XP_016884050.1:p.Tyr183His
XM_024452148.1:c.1240T>C	XP_024307916.1:p.Tyr414His
XM_024452149.1:c.1153T>C	XP_024307917.1:p.Tyr385His
XR_937805.2:n.1380T>C
NM_001005735.2:c.1339T>C	NP_001005735.1:p.Tyr447His
NM_001257387.2:c.547T>C	NP_001244316.1:p.Tyr183His
NM_001349956.2:c.1009T>C	NP_001336885.1:p.Tyr337His