Canonical Allele Identifier: CA411094341

Gene: CHEK2

Linked Data

• MyVariant Identifiers: chr22:g.29090071A>C (hg19) ; chr22:g.28694083A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694083A>C , CM000684.2:g.28694083A>C	GRCh38
NC_000022.10:g.29090071A>C , CM000684.1:g.29090071A>C	GRCh37
NC_000022.9:g.27420071A>C	NCBI36
NG_008150.1:g.52752T>G
NG_008150.2:g.52784T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.*145T>G	ENSP00000518557.1:n.*145T>G
ENST00000402731.6:c.1209T>G	ENSP00000384835.2:p.Asp403Glu
ENST00000404276.6:c.1410T>G MANE Select	ENSP00000385747.1:p.Asp470Glu
ENST00000425190.7:c.747T>G	ENSP00000390244.2:p.Asp249Glu
ENST00000464581.6:c.750T>G	ENSP00000483777.2:p.Asp250Glu
ENST00000648295.1:n.962T>G
ENST00000649563.1:c.747T>G	ENSP00000496928.1:p.Asp249Glu
ENST00000650281.1:c.1410T>G	ENSP00000497000.1:p.Asp470Glu
ENST00000328354.10:c.1410T>G	ENSP00000329178.6:p.Asp470Glu
ENST00000348295.7:c.1323T>G	ENSP00000329012.5:p.Asp441Glu
ENST00000382580.6:c.1539T>G	ENSP00000372023.2:p.Asp513Glu
ENST00000402731.5:c.1323T>G	ENSP00000384835.1:p.Asp441Glu
ENST00000403642.5:c.1137T>G	ENSP00000384919.1:p.Asp379Glu
ENST00000404276.5:c.1410T>G	ENSP00000385747.1:p.Asp470Glu
ENST00000405598.5:c.1410T>G	ENSP00000386087.1:p.Asp470Glu
ENST00000416671.5:c.*900T>G	ENSP00000402225.1:n.*900T>G
ENST00000417588.5:c.1319T>G	ENSP00000412901.1:n.1319T>G
ENST00000433728.5:c.1348T>G	ENSP00000404400.1:n.1348T>G
ENST00000434810.5:c.608T>G
ENST00000448511.5:c.1300T>G	ENSP00000404567.1:n.1300T>G
ENST00000456369.5:c.264-4868T>G
NM_001005735.1:c.1539T>G	NP_001005735.1:p.Asp513Glu
NM_001257387.1:c.747T>G	NP_001244316.1:p.Asp249Glu
NM_007194.3:c.1410T>G	NP_009125.1:p.Asp470Glu
NM_145862.2:c.1323T>G	NP_665861.1:p.Asp441Glu
XM_006724114.2:c.930T>G	XP_006724177.1:p.Asp310Glu
XM_006724116.2:c.867T>G	XP_006724179.2:p.Asp289Glu
XM_011529839.1:c.1569T>G	XP_011528141.1:p.Asp523Glu
XM_011529840.1:c.1482T>G	XP_011528142.1:p.Asp494Glu
XM_011529841.1:c.1338T>G	XP_011528143.1:p.Asp446Glu
XM_011529842.1:c.1239T>G	XP_011528144.1:p.Asp413Glu
XM_011529843.1:c.1209T>G	XP_011528145.1:p.Asp403Glu
XM_011529845.1:c.747T>G	XP_011528147.1:p.Asp249Glu
XR_937805.1:n.1569T>G
NM_001349956.1:c.1209T>G	NP_001336885.1:p.Asp403Glu
NM_007194.4:c.1410T>G MANE Select	NP_009125.1:p.Asp470Glu
XM_006724114.3:c.963T>G	XP_006724177.2:p.Asp321Glu
XM_011529839.2:c.1569T>G	XP_011528141.1:p.Asp523Glu
XM_011529840.3:c.1482T>G	XP_011528142.1:p.Asp494Glu
XM_011529842.2:c.1239T>G	XP_011528144.1:p.Asp413Glu
XM_011529845.2:c.747T>G	XP_011528147.1:p.Asp249Glu
XM_017028560.1:c.1533T>G	XP_016884049.1:p.Asp511Glu
XM_017028561.2:c.747T>G	XP_016884050.1:p.Asp249Glu
XM_024452148.1:c.1440T>G	XP_024307916.1:p.Asp480Glu
XM_024452149.1:c.1353T>G	XP_024307917.1:p.Asp451Glu
XR_937805.2:n.1580T>G
NM_001005735.2:c.1539T>G	NP_001005735.1:p.Asp513Glu
NM_001257387.2:c.747T>G	NP_001244316.1:p.Asp249Glu
NM_001349956.2:c.1209T>G	NP_001336885.1:p.Asp403Glu