Canonical Allele Identifier: CA513944703

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 669946
• ClinVar RCV Id: RCV000829060 ; RCV001444174 ; RCV004029208
• dbSNP Id: rs1346924016
• gnomAD v2: 22-29085138-G-A
• gnomAD v4: 22-28689150-G-A
• MyVariant Identifiers: chr22:g.29085138G>A (hg19) ; chr22:g.28689150G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28689150G>A , CM000684.2:g.28689150G>A	GRCh38
NC_000022.10:g.29085138G>A , CM000684.1:g.29085138G>A	GRCh37
NC_000022.9:g.27415138G>A	NCBI36
NG_008150.1:g.57685C>T
NG_008150.2:g.57717C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*262C>T	ENSP00000518557.1:n.*262C>T
ENST00000402731.6:c.1326C>T	ENSP00000384835.2:p.Pro442=
ENST00000404276.6:c.1527C>T MANE Select	ENSP00000385747.1:p.Pro509=
ENST00000425190.7:c.864C>T	ENSP00000390244.2:p.Pro288=
ENST00000464581.6:c.867C>T	ENSP00000483777.2:p.Pro289=
ENST00000648295.1:n.1079C>T
ENST00000649563.1:c.864C>T	ENSP00000496928.1:p.Pro288=
ENST00000650281.1:c.1527C>T	ENSP00000497000.1:p.Pro509=
ENST00000328354.10:c.1527C>T	ENSP00000329178.6:p.Pro509=
ENST00000348295.7:c.1440C>T	ENSP00000329012.5:p.Pro480=
ENST00000382580.6:c.1656C>T	ENSP00000372023.2:p.Pro552=
ENST00000402731.5:c.1440C>T	ENSP00000384835.1:p.Pro480=
ENST00000403642.5:c.1254C>T	ENSP00000384919.1:p.Pro418=
ENST00000404276.5:c.1527C>T	ENSP00000385747.1:p.Pro509=
ENST00000405598.5:c.1527C>T	ENSP00000386087.1:p.Pro509=
ENST00000416671.5:c.*1017C>T	ENSP00000402225.1:n.*1017C>T
ENST00000417588.5:c.1436C>T	ENSP00000412901.1:n.1436C>T
ENST00000433728.5:c.1465C>T	ENSP00000404400.1:n.1465C>T
ENST00000434810.5:c.725C>T
ENST00000448511.5:c.1417C>T	ENSP00000404567.1:n.1417C>T
ENST00000456369.5:c.329C>T
ENST00000472807.1:n.261C>T
NM_001005735.1:c.1656C>T	NP_001005735.1:p.Pro552=
NM_001257387.1:c.864C>T	NP_001244316.1:p.Pro288=
NM_007194.3:c.1527C>T	NP_009125.1:p.Pro509=
NM_145862.2:c.1440C>T	NP_665861.1:p.Pro480=
XM_006724114.2:c.1047C>T	XP_006724177.1:p.Pro349=
XM_006724116.2:c.984C>T	XP_006724179.2:p.Pro328=
XM_011529839.1:c.1686C>T	XP_011528141.1:p.Pro562=
XM_011529840.1:c.1599C>T	XP_011528142.1:p.Pro533=
XM_011529841.1:c.1455C>T	XP_011528143.1:p.Pro485=
XM_011529842.1:c.1356C>T	XP_011528144.1:p.Pro452=
XM_011529843.1:c.1326C>T	XP_011528145.1:p.Pro442=
XM_011529845.1:c.864C>T	XP_011528147.1:p.Pro288=
XR_937805.1:n.1686C>T
NM_001349956.1:c.1326C>T	NP_001336885.1:p.Pro442=
NM_007194.4:c.1527C>T MANE Select	NP_009125.1:p.Pro509=
XM_006724114.3:c.1080C>T	XP_006724177.2:p.Pro360=
XM_011529839.2:c.1686C>T	XP_011528141.1:p.Pro562=
XM_011529840.3:c.1599C>T	XP_011528142.1:p.Pro533=
XM_011529842.2:c.1356C>T	XP_011528144.1:p.Pro452=
XM_011529845.2:c.864C>T	XP_011528147.1:p.Pro288=
XM_017028560.1:c.1650C>T	XP_016884049.1:p.Pro550=
XM_017028561.2:c.864C>T	XP_016884050.1:p.Pro288=
XM_024452148.1:c.1557C>T	XP_024307916.1:p.Pro519=
XM_024452149.1:c.1470C>T	XP_024307917.1:p.Pro490=
XR_937805.2:n.1697C>T
NM_001005735.2:c.1656C>T	NP_001005735.1:p.Pro552=
NM_001257387.2:c.864C>T	NP_001244316.1:p.Pro288=
NM_001349956.2:c.1326C>T	NP_001336885.1:p.Pro442=