Canonical Allele Identifier: CA191748

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 185370
• ClinVar RCV Id: RCV000164779 ; RCV000424411 ; RCV000532130
• dbSNP Id: rs760502479
• ExAC: 22:29092973 G / T
• gnomAD v2: 22-29092973-G-T
• gnomAD v4: 22-28696985-G-T
• MyVariant Identifiers: chr22:g.29092973G>T (hg19) ; chr22:g.28696985G>T (hg38)
• PubMed: PMID:28152038

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696985G>T , CM000684.2:g.28696985G>T	GRCh38
NC_000022.10:g.29092973G>T , CM000684.1:g.29092973G>T	GRCh37
NC_000022.9:g.27422973G>T	NCBI36
NG_008150.1:g.49850C>A
NG_008150.2:g.49882C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1743C>A	ENSP00000518557.1:n.1009-1743C>A
ENST00000402731.6:c.810C>A	ENSP00000384835.2:p.Tyr270Ter
ENST00000404276.6:c.1011C>A MANE Select	ENSP00000385747.1:p.Tyr337Ter
ENST00000425190.7:c.348C>A	ENSP00000390244.2:p.Tyr116Ter
ENST00000464581.6:c.351C>A	ENSP00000483777.2:p.Tyr117Ter
ENST00000648295.1:n.563C>A
ENST00000649563.1:c.348C>A	ENSP00000496928.1:p.Tyr116Ter
ENST00000650281.1:c.1011C>A	ENSP00000497000.1:p.Tyr337Ter
ENST00000328354.10:c.1011C>A	ENSP00000329178.6:p.Tyr337Ter
ENST00000348295.7:c.1009-1112C>A	ENSP00000329012.5:n.1009-1112C>A
ENST00000382580.6:c.1140C>A	ENSP00000372023.2:p.Tyr380Ter
ENST00000402731.5:c.1009-1112C>A	ENSP00000384835.1:n.1009-1112C>A
ENST00000403642.5:c.738C>A	ENSP00000384919.1:p.Tyr246Ter
ENST00000404276.5:c.1011C>A	ENSP00000385747.1:p.Tyr337Ter
ENST00000405598.5:c.1011C>A	ENSP00000386087.1:p.Tyr337Ter
ENST00000416671.5:c.*501C>A	ENSP00000402225.1:n.*501C>A
ENST00000417588.5:c.920C>A	ENSP00000412901.1:n.920C>A
ENST00000425190.6:c.348C>A	ENSP00000390244.1:p.Tyr116Ter
ENST00000433028.6:c.*736C>A	ENSP00000403659.1:n.*736C>A
ENST00000433728.5:c.949C>A	ENSP00000404400.1:n.949C>A
ENST00000434810.5:c.242C>A
ENST00000447421.5:c.810C>A	ENSP00000397478.2:p.Tyr270Ter
ENST00000448511.5:c.901C>A	ENSP00000404567.1:n.901C>A
ENST00000456369.5:c.263+2853C>A
ENST00000464581.5:c.351C>A	ENSP00000483777.1:p.Tyr117Ter
ENST00000491919.5:n.568C>A
NM_001005735.1:c.1140C>A	NP_001005735.1:p.Tyr380Ter
NM_001257387.1:c.348C>A	NP_001244316.1:p.Tyr116Ter
NM_007194.3:c.1011C>A	NP_009125.1:p.Tyr337Ter
NM_145862.2:c.1009-1112C>A	NP_665861.1:n.1009-1112C>A
XM_006724114.2:c.531C>A	XP_006724177.1:p.Tyr177Ter
XM_006724116.2:c.468C>A	XP_006724179.2:p.Tyr156Ter
XM_011529839.1:c.1170C>A	XP_011528141.1:p.Tyr390Ter
XM_011529840.1:c.1168-1112C>A	XP_011528142.1:n.1168-1112C>A
XM_011529841.1:c.939C>A	XP_011528143.1:p.Tyr313Ter
XM_011529842.1:c.840C>A	XP_011528144.1:p.Tyr280Ter
XM_011529843.1:c.810C>A	XP_011528145.1:p.Tyr270Ter
XM_011529845.1:c.348C>A	XP_011528147.1:p.Tyr116Ter
XR_937805.1:n.1170C>A
XR_937806.1:n.1163-1112C>A
NM_001349956.1:c.810C>A	NP_001336885.1:p.Tyr270Ter
NM_007194.4:c.1011C>A MANE Select	NP_009125.1:p.Tyr337Ter
XM_006724114.3:c.564C>A	XP_006724177.2:p.Tyr188Ter
XM_011529839.2:c.1170C>A	XP_011528141.1:p.Tyr390Ter
XM_011529840.3:c.1168-1112C>A	XP_011528142.1:n.1168-1112C>A
XM_011529842.2:c.840C>A	XP_011528144.1:p.Tyr280Ter
XM_011529845.2:c.348C>A	XP_011528147.1:p.Tyr116Ter
XM_017028560.1:c.1134C>A	XP_016884049.1:p.Tyr378Ter
XM_017028561.2:c.348C>A	XP_016884050.1:p.Tyr116Ter
XM_024452148.1:c.1041C>A	XP_024307916.1:p.Tyr347Ter
XM_024452149.1:c.1039-1112C>A	XP_024307917.1:n.1039-1112C>A
XR_937805.2:n.1181C>A
XR_937806.2:n.1179-1112C>A
NM_001005735.2:c.1140C>A	NP_001005735.1:p.Tyr380Ter
NM_001257387.2:c.348C>A	NP_001244316.1:p.Tyr116Ter
NM_001349956.2:c.810C>A	NP_001336885.1:p.Tyr270Ter