Canonical Allele Identifier: CA411094501

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 2064674
• ClinVar RCV Id: RCV002953602
• MyVariant Identifiers: chr22:g.29090093A>G (hg19) ; chr22:g.28694105A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694105A>G , CM000684.2:g.28694105A>G	GRCh38
NC_000022.10:g.29090093A>G , CM000684.1:g.29090093A>G	GRCh37
NC_000022.9:g.27420093A>G	NCBI36
NG_008150.1:g.52730T>C
NG_008150.2:g.52762T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*123T>C	ENSP00000518557.1:n.*123T>C
ENST00000402731.6:c.1187T>C	ENSP00000384835.2:p.Val396Ala
ENST00000404276.6:c.1388T>C MANE Select	ENSP00000385747.1:p.Val463Ala
ENST00000425190.7:c.725T>C	ENSP00000390244.2:p.Val242Ala
ENST00000464581.6:c.728T>C	ENSP00000483777.2:p.Val243Ala
ENST00000648295.1:n.940T>C
ENST00000649563.1:c.725T>C	ENSP00000496928.1:p.Val242Ala
ENST00000650281.1:c.1388T>C	ENSP00000497000.1:p.Val463Ala
ENST00000328354.10:c.1388T>C	ENSP00000329178.6:p.Val463Ala
ENST00000348295.7:c.1301T>C	ENSP00000329012.5:p.Val434Ala
ENST00000382580.6:c.1517T>C	ENSP00000372023.2:p.Val506Ala
ENST00000402731.5:c.1301T>C	ENSP00000384835.1:p.Val434Ala
ENST00000403642.5:c.1115T>C	ENSP00000384919.1:p.Val372Ala
ENST00000404276.5:c.1388T>C	ENSP00000385747.1:p.Val463Ala
ENST00000405598.5:c.1388T>C	ENSP00000386087.1:p.Val463Ala
ENST00000416671.5:c.*878T>C	ENSP00000402225.1:n.*878T>C
ENST00000417588.5:c.1297T>C	ENSP00000412901.1:n.1297T>C
ENST00000433728.5:c.1326T>C	ENSP00000404400.1:n.1326T>C
ENST00000434810.5:c.586T>C
ENST00000448511.5:c.1278T>C	ENSP00000404567.1:n.1278T>C
ENST00000456369.5:c.264-4890T>C
NM_001005735.1:c.1517T>C	NP_001005735.1:p.Val506Ala
NM_001257387.1:c.725T>C	NP_001244316.1:p.Val242Ala
NM_007194.3:c.1388T>C	NP_009125.1:p.Val463Ala
NM_145862.2:c.1301T>C	NP_665861.1:p.Val434Ala
XM_006724114.2:c.908T>C	XP_006724177.1:p.Val303Ala
XM_006724116.2:c.845T>C	XP_006724179.2:p.Val282Ala
XM_011529839.1:c.1547T>C	XP_011528141.1:p.Val516Ala
XM_011529840.1:c.1460T>C	XP_011528142.1:p.Val487Ala
XM_011529841.1:c.1316T>C	XP_011528143.1:p.Val439Ala
XM_011529842.1:c.1217T>C	XP_011528144.1:p.Val406Ala
XM_011529843.1:c.1187T>C	XP_011528145.1:p.Val396Ala
XM_011529845.1:c.725T>C	XP_011528147.1:p.Val242Ala
XR_937805.1:n.1547T>C
NM_001349956.1:c.1187T>C	NP_001336885.1:p.Val396Ala
NM_007194.4:c.1388T>C MANE Select	NP_009125.1:p.Val463Ala
XM_006724114.3:c.941T>C	XP_006724177.2:p.Val314Ala
XM_011529839.2:c.1547T>C	XP_011528141.1:p.Val516Ala
XM_011529840.3:c.1460T>C	XP_011528142.1:p.Val487Ala
XM_011529842.2:c.1217T>C	XP_011528144.1:p.Val406Ala
XM_011529845.2:c.725T>C	XP_011528147.1:p.Val242Ala
XM_017028560.1:c.1511T>C	XP_016884049.1:p.Val504Ala
XM_017028561.2:c.725T>C	XP_016884050.1:p.Val242Ala
XM_024452148.1:c.1418T>C	XP_024307916.1:p.Val473Ala
XM_024452149.1:c.1331T>C	XP_024307917.1:p.Val444Ala
XR_937805.2:n.1558T>C
NM_001005735.2:c.1517T>C	NP_001005735.1:p.Val506Ala
NM_001257387.2:c.725T>C	NP_001244316.1:p.Val242Ala
NM_001349956.2:c.1187T>C	NP_001336885.1:p.Val396Ala