Canonical Allele Identifier: CA411096555

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 926661
• ClinVar RCV Id: RCV001189357
• dbSNP Id: rs1555913642
• MyVariant Identifiers: chr22:g.29091710A>C (hg19) ; chr22:g.28695722A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695722A>C , CM000684.2:g.28695722A>C	GRCh38
NC_000022.10:g.29091710A>C , CM000684.1:g.29091710A>C	GRCh37
NC_000022.9:g.27421710A>C	NCBI36
NG_008150.1:g.51113T>G
NG_008150.2:g.51145T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-480T>G	ENSP00000518557.1:n.1009-480T>G
ENST00000402731.6:c.1046T>G	ENSP00000384835.2:p.Ile349Ser
ENST00000404276.6:c.1247T>G MANE Select	ENSP00000385747.1:p.Ile416Ser
ENST00000425190.7:c.584T>G	ENSP00000390244.2:p.Ile195Ser
ENST00000464581.6:c.587T>G	ENSP00000483777.2:p.Ile196Ser
ENST00000648295.1:n.799T>G
ENST00000649563.1:c.584T>G	ENSP00000496928.1:p.Ile195Ser
ENST00000650281.1:c.1247T>G	ENSP00000497000.1:p.Ile416Ser
ENST00000328354.10:c.1247T>G	ENSP00000329178.6:p.Ile416Ser
ENST00000348295.7:c.1160T>G	ENSP00000329012.5:p.Ile387Ser
ENST00000382580.6:c.1376T>G	ENSP00000372023.2:p.Ile459Ser
ENST00000402731.5:c.1160T>G	ENSP00000384835.1:p.Ile387Ser
ENST00000403642.5:c.974T>G	ENSP00000384919.1:p.Ile325Ser
ENST00000404276.5:c.1247T>G	ENSP00000385747.1:p.Ile416Ser
ENST00000405598.5:c.1247T>G	ENSP00000386087.1:p.Ile416Ser
ENST00000416671.5:c.*737T>G	ENSP00000402225.1:n.*737T>G
ENST00000417588.5:c.1156T>G	ENSP00000412901.1:n.1156T>G
ENST00000433728.5:c.1185T>G	ENSP00000404400.1:n.1185T>G
ENST00000434810.5:c.478T>G
ENST00000448511.5:c.1137T>G	ENSP00000404567.1:n.1137T>G
ENST00000456369.5:c.263+4116T>G
NM_001005735.1:c.1376T>G	NP_001005735.1:p.Ile459Ser
NM_001257387.1:c.584T>G	NP_001244316.1:p.Ile195Ser
NM_007194.3:c.1247T>G	NP_009125.1:p.Ile416Ser
NM_145862.2:c.1160T>G	NP_665861.1:p.Ile387Ser
XM_006724114.2:c.767T>G	XP_006724177.1:p.Ile256Ser
XM_006724116.2:c.704T>G	XP_006724179.2:p.Ile235Ser
XM_011529839.1:c.1406T>G	XP_011528141.1:p.Ile469Ser
XM_011529840.1:c.1319T>G	XP_011528142.1:p.Ile440Ser
XM_011529841.1:c.1175T>G	XP_011528143.1:p.Ile392Ser
XM_011529842.1:c.1076T>G	XP_011528144.1:p.Ile359Ser
XM_011529843.1:c.1046T>G	XP_011528145.1:p.Ile349Ser
XM_011529845.1:c.584T>G	XP_011528147.1:p.Ile195Ser
XR_937805.1:n.1406T>G
NM_001349956.1:c.1046T>G	NP_001336885.1:p.Ile349Ser
NM_007194.4:c.1247T>G MANE Select	NP_009125.1:p.Ile416Ser
XM_006724114.3:c.800T>G	XP_006724177.2:p.Ile267Ser
XM_011529839.2:c.1406T>G	XP_011528141.1:p.Ile469Ser
XM_011529840.3:c.1319T>G	XP_011528142.1:p.Ile440Ser
XM_011529842.2:c.1076T>G	XP_011528144.1:p.Ile359Ser
XM_011529845.2:c.584T>G	XP_011528147.1:p.Ile195Ser
XM_017028560.1:c.1370T>G	XP_016884049.1:p.Ile457Ser
XM_017028561.2:c.584T>G	XP_016884050.1:p.Ile195Ser
XM_024452148.1:c.1277T>G	XP_024307916.1:p.Ile426Ser
XM_024452149.1:c.1190T>G	XP_024307917.1:p.Ile397Ser
XR_937805.2:n.1417T>G
NM_001005735.2:c.1376T>G	NP_001005735.1:p.Ile459Ser
NM_001257387.2:c.584T>G	NP_001244316.1:p.Ile195Ser
NM_001349956.2:c.1046T>G	NP_001336885.1:p.Ile349Ser