Canonical Allele Identifier: CA513944916

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 1637914
• ClinVar RCV Id: RCV002133711
• dbSNP Id: rs1601722925
• MyVariant Identifiers: chr22:g.29091796G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695808G>A , CM000684.2:g.28695808G>A	GRCh38
NC_000022.10:g.29091796G>A , CM000684.1:g.29091796G>A	GRCh37
NC_000022.9:g.27421796G>A	NCBI36
NG_008150.1:g.51027C>T
NG_008150.2:g.51059C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-566C>T	ENSP00000518557.1:n.1009-566C>T
ENST00000402731.6:c.960C>T	ENSP00000384835.2:p.Thr320=
ENST00000404276.6:c.1161C>T MANE Select	ENSP00000385747.1:p.Thr387=
ENST00000425190.7:c.498C>T	ENSP00000390244.2:p.Thr166=
ENST00000464581.6:c.501C>T	ENSP00000483777.2:p.Thr167=
ENST00000648295.1:n.713C>T
ENST00000649563.1:c.498C>T	ENSP00000496928.1:p.Thr166=
ENST00000650281.1:c.1161C>T	ENSP00000497000.1:p.Thr387=
ENST00000328354.10:c.1161C>T	ENSP00000329178.6:p.Thr387=
ENST00000348295.7:c.1074C>T	ENSP00000329012.5:p.Thr358=
ENST00000382580.6:c.1290C>T	ENSP00000372023.2:p.Thr430=
ENST00000402731.5:c.1074C>T	ENSP00000384835.1:p.Thr358=
ENST00000403642.5:c.888C>T	ENSP00000384919.1:p.Thr296=
ENST00000404276.5:c.1161C>T	ENSP00000385747.1:p.Thr387=
ENST00000405598.5:c.1161C>T	ENSP00000386087.1:p.Thr387=
ENST00000416671.5:c.*651C>T	ENSP00000402225.1:n.*651C>T
ENST00000417588.5:c.1070C>T	ENSP00000412901.1:n.1070C>T
ENST00000433728.5:c.1099C>T	ENSP00000404400.1:n.1099C>T
ENST00000434810.5:c.392C>T
ENST00000448511.5:c.1051C>T	ENSP00000404567.1:n.1051C>T
ENST00000456369.5:c.263+4030C>T
NM_001005735.1:c.1290C>T	NP_001005735.1:p.Thr430=
NM_001257387.1:c.498C>T	NP_001244316.1:p.Thr166=
NM_007194.3:c.1161C>T	NP_009125.1:p.Thr387=
NM_145862.2:c.1074C>T	NP_665861.1:p.Thr358=
XM_006724114.2:c.681C>T	XP_006724177.1:p.Thr227=
XM_006724116.2:c.618C>T	XP_006724179.2:p.Thr206=
XM_011529839.1:c.1320C>T	XP_011528141.1:p.Thr440=
XM_011529840.1:c.1233C>T	XP_011528142.1:p.Thr411=
XM_011529841.1:c.1089C>T	XP_011528143.1:p.Thr363=
XM_011529842.1:c.990C>T	XP_011528144.1:p.Thr330=
XM_011529843.1:c.960C>T	XP_011528145.1:p.Thr320=
XM_011529845.1:c.498C>T	XP_011528147.1:p.Thr166=
XR_937805.1:n.1320C>T
XR_937806.1:n.1228C>T
NM_001349956.1:c.960C>T	NP_001336885.1:p.Thr320=
NM_007194.4:c.1161C>T MANE Select	NP_009125.1:p.Thr387=
XM_006724114.3:c.714C>T	XP_006724177.2:p.Thr238=
XM_011529839.2:c.1320C>T	XP_011528141.1:p.Thr440=
XM_011529840.3:c.1233C>T	XP_011528142.1:p.Thr411=
XM_011529842.2:c.990C>T	XP_011528144.1:p.Thr330=
XM_011529845.2:c.498C>T	XP_011528147.1:p.Thr166=
XM_017028560.1:c.1284C>T	XP_016884049.1:p.Thr428=
XM_017028561.2:c.498C>T	XP_016884050.1:p.Thr166=
XM_024452148.1:c.1191C>T	XP_024307916.1:p.Thr397=
XM_024452149.1:c.1104C>T	XP_024307917.1:p.Thr368=
XR_937805.2:n.1331C>T
XR_937806.2:n.1244C>T
NM_001005735.2:c.1290C>T	NP_001005735.1:p.Thr430=
NM_001257387.2:c.498C>T	NP_001244316.1:p.Thr166=
NM_001349956.2:c.960C>T	NP_001336885.1:p.Thr320=