Canonical Allele Identifier: CA411096754

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 1022578
• ClinVar RCV Id: RCV001322507
• dbSNP Id: rs1175088679
• MyVariant Identifiers: chr22:g.29091752G>C (hg19) ; chr22:g.28695764G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695764G>C , CM000684.2:g.28695764G>C	GRCh38
NC_000022.10:g.29091752G>C , CM000684.1:g.29091752G>C	GRCh37
NC_000022.9:g.27421752G>C	NCBI36
NG_008150.1:g.51071C>G
NG_008150.2:g.51103C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-522C>G	ENSP00000518557.1:n.1009-522C>G
ENST00000402731.6:c.1004C>G	ENSP00000384835.2:p.Ala335Gly
ENST00000404276.6:c.1205C>G MANE Select	ENSP00000385747.1:p.Ala402Gly
ENST00000425190.7:c.542C>G	ENSP00000390244.2:p.Ala181Gly
ENST00000464581.6:c.545C>G	ENSP00000483777.2:p.Ala182Gly
ENST00000648295.1:n.757C>G
ENST00000649563.1:c.542C>G	ENSP00000496928.1:p.Ala181Gly
ENST00000650281.1:c.1205C>G	ENSP00000497000.1:p.Ala402Gly
ENST00000328354.10:c.1205C>G	ENSP00000329178.6:p.Ala402Gly
ENST00000348295.7:c.1118C>G	ENSP00000329012.5:p.Ala373Gly
ENST00000382580.6:c.1334C>G	ENSP00000372023.2:p.Ala445Gly
ENST00000402731.5:c.1118C>G	ENSP00000384835.1:p.Ala373Gly
ENST00000403642.5:c.932C>G	ENSP00000384919.1:p.Ala311Gly
ENST00000404276.5:c.1205C>G	ENSP00000385747.1:p.Ala402Gly
ENST00000405598.5:c.1205C>G	ENSP00000386087.1:p.Ala402Gly
ENST00000416671.5:c.*695C>G	ENSP00000402225.1:n.*695C>G
ENST00000417588.5:c.1114C>G	ENSP00000412901.1:n.1114C>G
ENST00000433728.5:c.1143C>G	ENSP00000404400.1:n.1143C>G
ENST00000434810.5:c.436C>G
ENST00000448511.5:c.1095C>G	ENSP00000404567.1:n.1095C>G
ENST00000456369.5:c.263+4074C>G
NM_001005735.1:c.1334C>G	NP_001005735.1:p.Ala445Gly
NM_001257387.1:c.542C>G	NP_001244316.1:p.Ala181Gly
NM_007194.3:c.1205C>G	NP_009125.1:p.Ala402Gly
NM_145862.2:c.1118C>G	NP_665861.1:p.Ala373Gly
XM_006724114.2:c.725C>G	XP_006724177.1:p.Ala242Gly
XM_006724116.2:c.662C>G	XP_006724179.2:p.Ala221Gly
XM_011529839.1:c.1364C>G	XP_011528141.1:p.Ala455Gly
XM_011529840.1:c.1277C>G	XP_011528142.1:p.Ala426Gly
XM_011529841.1:c.1133C>G	XP_011528143.1:p.Ala378Gly
XM_011529842.1:c.1034C>G	XP_011528144.1:p.Ala345Gly
XM_011529843.1:c.1004C>G	XP_011528145.1:p.Ala335Gly
XM_011529845.1:c.542C>G	XP_011528147.1:p.Ala181Gly
XR_937805.1:n.1364C>G
NM_001349956.1:c.1004C>G	NP_001336885.1:p.Ala335Gly
NM_007194.4:c.1205C>G MANE Select	NP_009125.1:p.Ala402Gly
XM_006724114.3:c.758C>G	XP_006724177.2:p.Ala253Gly
XM_011529839.2:c.1364C>G	XP_011528141.1:p.Ala455Gly
XM_011529840.3:c.1277C>G	XP_011528142.1:p.Ala426Gly
XM_011529842.2:c.1034C>G	XP_011528144.1:p.Ala345Gly
XM_011529845.2:c.542C>G	XP_011528147.1:p.Ala181Gly
XM_017028560.1:c.1328C>G	XP_016884049.1:p.Ala443Gly
XM_017028561.2:c.542C>G	XP_016884050.1:p.Ala181Gly
XM_024452148.1:c.1235C>G	XP_024307916.1:p.Ala412Gly
XM_024452149.1:c.1148C>G	XP_024307917.1:p.Ala383Gly
XR_937805.2:n.1375C>G
NM_001005735.2:c.1334C>G	NP_001005735.1:p.Ala445Gly
NM_001257387.2:c.542C>G	NP_001244316.1:p.Ala181Gly
NM_001349956.2:c.1004C>G	NP_001336885.1:p.Ala335Gly