Canonical Allele Identifier: CA10167739

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 489871
• ClinVar RCV Id: RCV000581142 ; RCV001361432 ; RCV003226329
• dbSNP Id: rs764181318
• ExAC: 22:29092929 T / C
• gnomAD v2: 22-29092929-T-C
• gnomAD v4: 22-28696941-T-C
• MyVariant Identifiers: chr22:g.29092929T>C (hg19) ; chr22:g.28696941T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696941T>C , CM000684.2:g.28696941T>C	GRCh38
NC_000022.10:g.29092929T>C , CM000684.1:g.29092929T>C	GRCh37
NC_000022.9:g.27422929T>C	NCBI36
NG_008150.1:g.49894A>G
NG_008150.2:g.49926A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1699A>G	ENSP00000518557.1:n.1009-1699A>G
ENST00000402731.6:c.854A>G	ENSP00000384835.2:p.Asn285Ser
ENST00000404276.6:c.1055A>G MANE Select	ENSP00000385747.1:p.Asn352Ser
ENST00000425190.7:c.392A>G	ENSP00000390244.2:p.Asn131Ser
ENST00000464581.6:c.395A>G	ENSP00000483777.2:p.Asn132Ser
ENST00000648295.1:n.607A>G
ENST00000649563.1:c.392A>G	ENSP00000496928.1:p.Asn131Ser
ENST00000650281.1:c.1055A>G	ENSP00000497000.1:p.Asn352Ser
ENST00000328354.10:c.1055A>G	ENSP00000329178.6:p.Asn352Ser
ENST00000348295.7:c.1009-1068A>G	ENSP00000329012.5:n.1009-1068A>G
ENST00000382580.6:c.1184A>G	ENSP00000372023.2:p.Asn395Ser
ENST00000402731.5:c.1009-1068A>G	ENSP00000384835.1:n.1009-1068A>G
ENST00000403642.5:c.782A>G	ENSP00000384919.1:p.Asn261Ser
ENST00000404276.5:c.1055A>G	ENSP00000385747.1:p.Asn352Ser
ENST00000405598.5:c.1055A>G	ENSP00000386087.1:p.Asn352Ser
ENST00000416671.5:c.*545A>G	ENSP00000402225.1:n.*545A>G
ENST00000417588.5:c.964A>G	ENSP00000412901.1:n.964A>G
ENST00000433028.6:c.*780A>G	ENSP00000403659.1:n.*780A>G
ENST00000433728.5:c.993A>G	ENSP00000404400.1:n.993A>G
ENST00000434810.5:c.286A>G
ENST00000447421.5:c.854A>G	ENSP00000397478.2:p.Asn285Ser
ENST00000448511.5:c.945A>G	ENSP00000404567.1:n.945A>G
ENST00000456369.5:c.263+2897A>G
ENST00000464581.5:c.395A>G	ENSP00000483777.1:p.Asn132Ser
NM_001005735.1:c.1184A>G	NP_001005735.1:p.Asn395Ser
NM_001257387.1:c.392A>G	NP_001244316.1:p.Asn131Ser
NM_007194.3:c.1055A>G	NP_009125.1:p.Asn352Ser
NM_145862.2:c.1009-1068A>G	NP_665861.1:n.1009-1068A>G
XM_006724114.2:c.575A>G	XP_006724177.1:p.Asn192Ser
XM_006724116.2:c.512A>G	XP_006724179.2:p.Asn171Ser
XM_011529839.1:c.1214A>G	XP_011528141.1:p.Asn405Ser
XM_011529840.1:c.1168-1068A>G	XP_011528142.1:n.1168-1068A>G
XM_011529841.1:c.983A>G	XP_011528143.1:p.Asn328Ser
XM_011529842.1:c.884A>G	XP_011528144.1:p.Asn295Ser
XM_011529843.1:c.854A>G	XP_011528145.1:p.Asn285Ser
XM_011529845.1:c.392A>G	XP_011528147.1:p.Asn131Ser
XR_937805.1:n.1214A>G
XR_937806.1:n.1163-1068A>G
NM_001349956.1:c.854A>G	NP_001336885.1:p.Asn285Ser
NM_007194.4:c.1055A>G MANE Select	NP_009125.1:p.Asn352Ser
XM_006724114.3:c.608A>G	XP_006724177.2:p.Asn203Ser
XM_011529839.2:c.1214A>G	XP_011528141.1:p.Asn405Ser
XM_011529840.3:c.1168-1068A>G	XP_011528142.1:n.1168-1068A>G
XM_011529842.2:c.884A>G	XP_011528144.1:p.Asn295Ser
XM_011529845.2:c.392A>G	XP_011528147.1:p.Asn131Ser
XM_017028560.1:c.1178A>G	XP_016884049.1:p.Asn393Ser
XM_017028561.2:c.392A>G	XP_016884050.1:p.Asn131Ser
XM_024452148.1:c.1085A>G	XP_024307916.1:p.Asn362Ser
XM_024452149.1:c.1039-1068A>G	XP_024307917.1:n.1039-1068A>G
XR_937805.2:n.1225A>G
XR_937806.2:n.1179-1068A>G
NM_001005735.2:c.1184A>G	NP_001005735.1:p.Asn395Ser
NM_001257387.2:c.392A>G	NP_001244316.1:p.Asn131Ser
NM_001349956.2:c.854A>G	NP_001336885.1:p.Asn285Ser