Canonical Allele Identifier: CA411096633

Gene: CHEK2

Linked Data

• MyVariant Identifiers: chr22:g.29091723T>C (hg19) ; chr22:g.28695735T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695735T>C , CM000684.2:g.28695735T>C	GRCh38
NC_000022.10:g.29091723T>C , CM000684.1:g.29091723T>C	GRCh37
NC_000022.9:g.27421723T>C	NCBI36
NG_008150.1:g.51100A>G
NG_008150.2:g.51132A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-493A>G	ENSP00000518557.1:n.1009-493A>G
ENST00000402731.6:c.1033A>G	ENSP00000384835.2:p.Ser345Gly
ENST00000404276.6:c.1234A>G MANE Select	ENSP00000385747.1:p.Ser412Gly
ENST00000425190.7:c.571A>G	ENSP00000390244.2:p.Ser191Gly
ENST00000464581.6:c.574A>G	ENSP00000483777.2:p.Ser192Gly
ENST00000648295.1:n.786A>G
ENST00000649563.1:c.571A>G	ENSP00000496928.1:p.Ser191Gly
ENST00000650281.1:c.1234A>G	ENSP00000497000.1:p.Ser412Gly
ENST00000328354.10:c.1234A>G	ENSP00000329178.6:p.Ser412Gly
ENST00000348295.7:c.1147A>G	ENSP00000329012.5:p.Ser383Gly
ENST00000382580.6:c.1363A>G	ENSP00000372023.2:p.Ser455Gly
ENST00000402731.5:c.1147A>G	ENSP00000384835.1:p.Ser383Gly
ENST00000403642.5:c.961A>G	ENSP00000384919.1:p.Ser321Gly
ENST00000404276.5:c.1234A>G	ENSP00000385747.1:p.Ser412Gly
ENST00000405598.5:c.1234A>G	ENSP00000386087.1:p.Ser412Gly
ENST00000416671.5:c.*724A>G	ENSP00000402225.1:n.*724A>G
ENST00000417588.5:c.1143A>G	ENSP00000412901.1:n.1143A>G
ENST00000433728.5:c.1172A>G	ENSP00000404400.1:n.1172A>G
ENST00000434810.5:c.465A>G
ENST00000448511.5:c.1124A>G	ENSP00000404567.1:n.1124A>G
ENST00000456369.5:c.263+4103A>G
NM_001005735.1:c.1363A>G	NP_001005735.1:p.Ser455Gly
NM_001257387.1:c.571A>G	NP_001244316.1:p.Ser191Gly
NM_007194.3:c.1234A>G	NP_009125.1:p.Ser412Gly
NM_145862.2:c.1147A>G	NP_665861.1:p.Ser383Gly
XM_006724114.2:c.754A>G	XP_006724177.1:p.Ser252Gly
XM_006724116.2:c.691A>G	XP_006724179.2:p.Ser231Gly
XM_011529839.1:c.1393A>G	XP_011528141.1:p.Ser465Gly
XM_011529840.1:c.1306A>G	XP_011528142.1:p.Ser436Gly
XM_011529841.1:c.1162A>G	XP_011528143.1:p.Ser388Gly
XM_011529842.1:c.1063A>G	XP_011528144.1:p.Ser355Gly
XM_011529843.1:c.1033A>G	XP_011528145.1:p.Ser345Gly
XM_011529845.1:c.571A>G	XP_011528147.1:p.Ser191Gly
XR_937805.1:n.1393A>G
NM_001349956.1:c.1033A>G	NP_001336885.1:p.Ser345Gly
NM_007194.4:c.1234A>G MANE Select	NP_009125.1:p.Ser412Gly
XM_006724114.3:c.787A>G	XP_006724177.2:p.Ser263Gly
XM_011529839.2:c.1393A>G	XP_011528141.1:p.Ser465Gly
XM_011529840.3:c.1306A>G	XP_011528142.1:p.Ser436Gly
XM_011529842.2:c.1063A>G	XP_011528144.1:p.Ser355Gly
XM_011529845.2:c.571A>G	XP_011528147.1:p.Ser191Gly
XM_017028560.1:c.1357A>G	XP_016884049.1:p.Ser453Gly
XM_017028561.2:c.571A>G	XP_016884050.1:p.Ser191Gly
XM_024452148.1:c.1264A>G	XP_024307916.1:p.Ser422Gly
XM_024452149.1:c.1177A>G	XP_024307917.1:p.Ser393Gly
XR_937805.2:n.1404A>G
NM_001005735.2:c.1363A>G	NP_001005735.1:p.Ser455Gly
NM_001257387.2:c.571A>G	NP_001244316.1:p.Ser191Gly
NM_001349956.2:c.1033A>G	NP_001336885.1:p.Ser345Gly