Canonical Allele Identifier: CA10167738

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 460778
• ClinVar RCV Id: RCV000558843 ; RCV002404408
• dbSNP Id: rs758434121
• ExAC: 22:29092926 A / G
• gnomAD v2: 22-29092926-A-G
• gnomAD v4: 22-28696938-A-G
• MyVariant Identifiers: chr22:g.29092926A>G (hg19) ; chr22:g.28696938A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696938A>G , CM000684.2:g.28696938A>G	GRCh38
NC_000022.10:g.29092926A>G , CM000684.1:g.29092926A>G	GRCh37
NC_000022.9:g.27422926A>G	NCBI36
NG_008150.1:g.49897T>C
NG_008150.2:g.49929T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1696T>C	ENSP00000518557.1:n.1009-1696T>C
ENST00000402731.6:c.857T>C	ENSP00000384835.2:p.Val286Ala
ENST00000404276.6:c.1058T>C MANE Select	ENSP00000385747.1:p.Val353Ala
ENST00000425190.7:c.395T>C	ENSP00000390244.2:p.Val132Ala
ENST00000464581.6:c.398T>C	ENSP00000483777.2:p.Val133Ala
ENST00000648295.1:n.610T>C
ENST00000649563.1:c.395T>C	ENSP00000496928.1:p.Val132Ala
ENST00000650281.1:c.1058T>C	ENSP00000497000.1:p.Val353Ala
ENST00000328354.10:c.1058T>C	ENSP00000329178.6:p.Val353Ala
ENST00000348295.7:c.1009-1065T>C	ENSP00000329012.5:n.1009-1065T>C
ENST00000382580.6:c.1187T>C	ENSP00000372023.2:p.Val396Ala
ENST00000402731.5:c.1009-1065T>C	ENSP00000384835.1:n.1009-1065T>C
ENST00000403642.5:c.785T>C	ENSP00000384919.1:p.Val262Ala
ENST00000404276.5:c.1058T>C	ENSP00000385747.1:p.Val353Ala
ENST00000405598.5:c.1058T>C	ENSP00000386087.1:p.Val353Ala
ENST00000416671.5:c.*548T>C	ENSP00000402225.1:n.*548T>C
ENST00000417588.5:c.967T>C	ENSP00000412901.1:n.967T>C
ENST00000433028.6:c.*783T>C	ENSP00000403659.1:n.*783T>C
ENST00000433728.5:c.996T>C	ENSP00000404400.1:n.996T>C
ENST00000434810.5:c.289T>C
ENST00000447421.5:c.857T>C	ENSP00000397478.2:p.Val286Ala
ENST00000448511.5:c.948T>C	ENSP00000404567.1:n.948T>C
ENST00000456369.5:c.263+2900T>C
ENST00000464581.5:c.398T>C	ENSP00000483777.1:p.Val133Ala
NM_001005735.1:c.1187T>C	NP_001005735.1:p.Val396Ala
NM_001257387.1:c.395T>C	NP_001244316.1:p.Val132Ala
NM_007194.3:c.1058T>C	NP_009125.1:p.Val353Ala
NM_145862.2:c.1009-1065T>C	NP_665861.1:n.1009-1065T>C
XM_006724114.2:c.578T>C	XP_006724177.1:p.Val193Ala
XM_006724116.2:c.515T>C	XP_006724179.2:p.Val172Ala
XM_011529839.1:c.1217T>C	XP_011528141.1:p.Val406Ala
XM_011529840.1:c.1168-1065T>C	XP_011528142.1:n.1168-1065T>C
XM_011529841.1:c.986T>C	XP_011528143.1:p.Val329Ala
XM_011529842.1:c.887T>C	XP_011528144.1:p.Val296Ala
XM_011529843.1:c.857T>C	XP_011528145.1:p.Val286Ala
XM_011529845.1:c.395T>C	XP_011528147.1:p.Val132Ala
XR_937805.1:n.1217T>C
XR_937806.1:n.1163-1065T>C
NM_001349956.1:c.857T>C	NP_001336885.1:p.Val286Ala
NM_007194.4:c.1058T>C MANE Select	NP_009125.1:p.Val353Ala
XM_006724114.3:c.611T>C	XP_006724177.2:p.Val204Ala
XM_011529839.2:c.1217T>C	XP_011528141.1:p.Val406Ala
XM_011529840.3:c.1168-1065T>C	XP_011528142.1:n.1168-1065T>C
XM_011529842.2:c.887T>C	XP_011528144.1:p.Val296Ala
XM_011529845.2:c.395T>C	XP_011528147.1:p.Val132Ala
XM_017028560.1:c.1181T>C	XP_016884049.1:p.Val394Ala
XM_017028561.2:c.395T>C	XP_016884050.1:p.Val132Ala
XM_024452148.1:c.1088T>C	XP_024307916.1:p.Val363Ala
XM_024452149.1:c.1039-1065T>C	XP_024307917.1:n.1039-1065T>C
XR_937805.2:n.1228T>C
XR_937806.2:n.1179-1065T>C
NM_001005735.2:c.1187T>C	NP_001005735.1:p.Val396Ala
NM_001257387.2:c.395T>C	NP_001244316.1:p.Val132Ala
NM_001349956.2:c.857T>C	NP_001336885.1:p.Val286Ala