Canonical Allele Identifier: CA10581048

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 230645
• ClinVar RCV Id: RCV000221402 ; RCV000545025
• dbSNP Id: rs876658682
• gnomAD v3: 22-28695774-C-T
• gnomAD v4: 22-28695774-C-T
• MyVariant Identifiers: chr22:g.29091762C>T (hg19) ; chr22:g.28695774C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695774C>T , CM000684.2:g.28695774C>T	GRCh38
NC_000022.10:g.29091762C>T , CM000684.1:g.29091762C>T	GRCh37
NC_000022.9:g.27421762C>T	NCBI36
NG_008150.1:g.51061G>A
NG_008150.2:g.51093G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-532G>A	ENSP00000518557.1:n.1009-532G>A
ENST00000402731.6:c.994G>A	ENSP00000384835.2:p.Val332Ile
ENST00000404276.6:c.1195G>A MANE Select	ENSP00000385747.1:p.Val399Ile
ENST00000425190.7:c.532G>A	ENSP00000390244.2:p.Val178Ile
ENST00000464581.6:c.535G>A	ENSP00000483777.2:p.Val179Ile
ENST00000648295.1:n.747G>A
ENST00000649563.1:c.532G>A	ENSP00000496928.1:p.Val178Ile
ENST00000650281.1:c.1195G>A	ENSP00000497000.1:p.Val399Ile
ENST00000328354.10:c.1195G>A	ENSP00000329178.6:p.Val399Ile
ENST00000348295.7:c.1108G>A	ENSP00000329012.5:p.Val370Ile
ENST00000382580.6:c.1324G>A	ENSP00000372023.2:p.Val442Ile
ENST00000402731.5:c.1108G>A	ENSP00000384835.1:p.Val370Ile
ENST00000403642.5:c.922G>A	ENSP00000384919.1:p.Val308Ile
ENST00000404276.5:c.1195G>A	ENSP00000385747.1:p.Val399Ile
ENST00000405598.5:c.1195G>A	ENSP00000386087.1:p.Val399Ile
ENST00000416671.5:c.*685G>A	ENSP00000402225.1:n.*685G>A
ENST00000417588.5:c.1104G>A	ENSP00000412901.1:n.1104G>A
ENST00000433728.5:c.1133G>A	ENSP00000404400.1:n.1133G>A
ENST00000434810.5:c.426G>A
ENST00000448511.5:c.1085G>A	ENSP00000404567.1:n.1085G>A
ENST00000456369.5:c.263+4064G>A
NM_001005735.1:c.1324G>A	NP_001005735.1:p.Val442Ile
NM_001257387.1:c.532G>A	NP_001244316.1:p.Val178Ile
NM_007194.3:c.1195G>A	NP_009125.1:p.Val399Ile
NM_145862.2:c.1108G>A	NP_665861.1:p.Val370Ile
XM_006724114.2:c.715G>A	XP_006724177.1:p.Val239Ile
XM_006724116.2:c.652G>A	XP_006724179.2:p.Val218Ile
XM_011529839.1:c.1354G>A	XP_011528141.1:p.Val452Ile
XM_011529840.1:c.1267G>A	XP_011528142.1:p.Val423Ile
XM_011529841.1:c.1123G>A	XP_011528143.1:p.Val375Ile
XM_011529842.1:c.1024G>A	XP_011528144.1:p.Val342Ile
XM_011529843.1:c.994G>A	XP_011528145.1:p.Val332Ile
XM_011529845.1:c.532G>A	XP_011528147.1:p.Val178Ile
XR_937805.1:n.1354G>A
NM_001349956.1:c.994G>A	NP_001336885.1:p.Val332Ile
NM_007194.4:c.1195G>A MANE Select	NP_009125.1:p.Val399Ile
XM_006724114.3:c.748G>A	XP_006724177.2:p.Val250Ile
XM_011529839.2:c.1354G>A	XP_011528141.1:p.Val452Ile
XM_011529840.3:c.1267G>A	XP_011528142.1:p.Val423Ile
XM_011529842.2:c.1024G>A	XP_011528144.1:p.Val342Ile
XM_011529845.2:c.532G>A	XP_011528147.1:p.Val178Ile
XM_017028560.1:c.1318G>A	XP_016884049.1:p.Val440Ile
XM_017028561.2:c.532G>A	XP_016884050.1:p.Val178Ile
XM_024452148.1:c.1225G>A	XP_024307916.1:p.Val409Ile
XM_024452149.1:c.1138G>A	XP_024307917.1:p.Val380Ile
XR_937805.2:n.1365G>A
NM_001005735.2:c.1324G>A	NP_001005735.1:p.Val442Ile
NM_001257387.2:c.532G>A	NP_001244316.1:p.Val178Ile
NM_001349956.2:c.994G>A	NP_001336885.1:p.Val332Ile