Canonical Allele Identifier: CA16616334

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 410048
• ClinVar RCV Id: RCV000460369
• dbSNP Id: rs1060502710
• MyVariant Identifiers: chr22:g.29107910G>T (hg19) ; chr22:g.28711922G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28711922G>T , CM000684.2:g.28711922G>T	GRCh38
NC_000022.10:g.29107910G>T , CM000684.1:g.29107910G>T	GRCh37
NC_000022.9:g.27437910G>T	NCBI36
NG_008150.1:g.34913C>A
NG_008150.2:g.34945C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000439346.6:c.688C>A	ENSP00000396903.2:n.688C>A
ENST00000711048.1:c.779C>A	ENSP00000518557.1:p.Ser260Ter
ENST00000402731.6:c.578C>A	ENSP00000384835.2:p.Ser193Ter
ENST00000404276.6:c.779C>A MANE Select	ENSP00000385747.1:p.Ser260Ter
ENST00000425190.7:c.116C>A	ENSP00000390244.2:p.Ser39Ter
ENST00000464581.6:c.119C>A	ENSP00000483777.2:p.Ser40Ter
ENST00000648295.1:n.331C>A
ENST00000649563.1:c.116C>A	ENSP00000496928.1:p.Ser39Ter
ENST00000650281.1:c.779C>A	ENSP00000497000.1:p.Ser260Ter
ENST00000328354.10:c.779C>A	ENSP00000329178.6:p.Ser260Ter
ENST00000348295.7:c.779C>A	ENSP00000329012.5:p.Ser260Ter
ENST00000382580.6:c.908C>A	ENSP00000372023.2:p.Ser303Ter
ENST00000402731.5:c.779C>A	ENSP00000384835.1:p.Ser260Ter
ENST00000403642.5:c.506C>A	ENSP00000384919.1:p.Ser169Ter
ENST00000404276.5:c.779C>A	ENSP00000385747.1:p.Ser260Ter
ENST00000405598.5:c.779C>A	ENSP00000386087.1:p.Ser260Ter
ENST00000416671.5:c.*269C>A	ENSP00000402225.1:n.*269C>A
ENST00000417588.5:c.688C>A	ENSP00000412901.1:n.688C>A
ENST00000425190.6:c.116C>A	ENSP00000390244.1:p.Ser39Ter
ENST00000433028.6:c.*504C>A	ENSP00000403659.1:n.*504C>A
ENST00000433728.5:c.779C>A	ENSP00000404400.1:p.Ser260Ter
ENST00000434810.5:c.10C>A
ENST00000439200.5:c.872C>A	ENSP00000408065.1:p.Ser291Ter
ENST00000439346.5:c.250C>A	ENSP00000396903.1:n.250C>A
ENST00000447421.5:c.578C>A	ENSP00000397478.2:p.Ser193Ter
ENST00000448511.5:c.669C>A	ENSP00000404567.1:n.669C>A
ENST00000456369.5:c.34C>A
ENST00000464581.5:c.119C>A	ENSP00000483777.1:p.Ser40Ter
ENST00000491919.5:n.336C>A
NM_001005735.1:c.908C>A	NP_001005735.1:p.Ser303Ter
NM_001257387.1:c.116C>A	NP_001244316.1:p.Ser39Ter
NM_007194.3:c.779C>A	NP_009125.1:p.Ser260Ter
NM_145862.2:c.779C>A	NP_665861.1:p.Ser260Ter
XM_006724114.2:c.299C>A	XP_006724177.1:p.Ser100Ter
XM_006724116.2:c.236C>A	XP_006724179.2:p.Ser79Ter
XM_011529839.1:c.938C>A	XP_011528141.1:p.Ser313Ter
XM_011529840.1:c.938C>A	XP_011528142.1:p.Ser313Ter
XM_011529841.1:c.707C>A	XP_011528143.1:p.Ser236Ter
XM_011529842.1:c.608C>A	XP_011528144.1:p.Ser203Ter
XM_011529843.1:c.578C>A	XP_011528145.1:p.Ser193Ter
XM_011529844.1:c.938C>A	XP_011528146.1:p.Ser313Ter
XM_011529845.1:c.116C>A	XP_011528147.1:p.Ser39Ter
XR_937805.1:n.1000C>A
XR_937806.1:n.995C>A
XR_937807.1:n.995C>A
NM_001349956.1:c.578C>A	NP_001336885.1:p.Ser193Ter
NM_007194.4:c.779C>A MANE Select	NP_009125.1:p.Ser260Ter
XM_006724114.3:c.332C>A	XP_006724177.2:p.Ser111Ter
XM_011529839.2:c.938C>A	XP_011528141.1:p.Ser313Ter
XM_011529840.3:c.938C>A	XP_011528142.1:p.Ser313Ter
XM_011529842.2:c.608C>A	XP_011528144.1:p.Ser203Ter
XM_011529844.2:c.938C>A	XP_011528146.1:p.Ser313Ter
XM_011529845.2:c.116C>A	XP_011528147.1:p.Ser39Ter
XM_017028560.1:c.902C>A	XP_016884049.1:p.Ser301Ter
XM_017028561.2:c.116C>A	XP_016884050.1:p.Ser39Ter
XM_024452148.1:c.809C>A	XP_024307916.1:p.Ser270Ter
XM_024452149.1:c.809C>A	XP_024307917.1:p.Ser270Ter
XR_937805.2:n.1011C>A
XR_937806.2:n.1011C>A
XR_937807.2:n.1011C>A
NM_001005735.2:c.908C>A	NP_001005735.1:p.Ser303Ter
NM_001257387.2:c.116C>A	NP_001244316.1:p.Ser39Ter
NM_001349956.2:c.578C>A	NP_001336885.1:p.Ser193Ter