Canonical Allele Identifier: CA513944899

Gene: CHEK2

Linked Data

• dbSNP Id: rs2145803741
• MyVariant Identifiers: chr22:g.29091769A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695781A>T , CM000684.2:g.28695781A>T	GRCh38
NC_000022.10:g.29091769A>T , CM000684.1:g.29091769A>T	GRCh37
NC_000022.9:g.27421769A>T	NCBI36
NG_008150.1:g.51054T>A
NG_008150.2:g.51086T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-539T>A	ENSP00000518557.1:n.1009-539T>A
ENST00000402731.6:c.987T>A	ENSP00000384835.2:p.Leu329=
ENST00000404276.6:c.1188T>A MANE Select	ENSP00000385747.1:p.Leu396=
ENST00000425190.7:c.525T>A	ENSP00000390244.2:p.Leu175=
ENST00000464581.6:c.528T>A	ENSP00000483777.2:p.Leu176=
ENST00000648295.1:n.740T>A
ENST00000649563.1:c.525T>A	ENSP00000496928.1:p.Leu175=
ENST00000650281.1:c.1188T>A	ENSP00000497000.1:p.Leu396=
ENST00000328354.10:c.1188T>A	ENSP00000329178.6:p.Leu396=
ENST00000348295.7:c.1101T>A	ENSP00000329012.5:p.Leu367=
ENST00000382580.6:c.1317T>A	ENSP00000372023.2:p.Leu439=
ENST00000402731.5:c.1101T>A	ENSP00000384835.1:p.Leu367=
ENST00000403642.5:c.915T>A	ENSP00000384919.1:p.Leu305=
ENST00000404276.5:c.1188T>A	ENSP00000385747.1:p.Leu396=
ENST00000405598.5:c.1188T>A	ENSP00000386087.1:p.Leu396=
ENST00000416671.5:c.*678T>A	ENSP00000402225.1:n.*678T>A
ENST00000417588.5:c.1097T>A	ENSP00000412901.1:n.1097T>A
ENST00000433728.5:c.1126T>A	ENSP00000404400.1:n.1126T>A
ENST00000434810.5:c.419T>A
ENST00000448511.5:c.1078T>A	ENSP00000404567.1:n.1078T>A
ENST00000456369.5:c.263+4057T>A
NM_001005735.1:c.1317T>A	NP_001005735.1:p.Leu439=
NM_001257387.1:c.525T>A	NP_001244316.1:p.Leu175=
NM_007194.3:c.1188T>A	NP_009125.1:p.Leu396=
NM_145862.2:c.1101T>A	NP_665861.1:p.Leu367=
XM_006724114.2:c.708T>A	XP_006724177.1:p.Leu236=
XM_006724116.2:c.645T>A	XP_006724179.2:p.Leu215=
XM_011529839.1:c.1347T>A	XP_011528141.1:p.Leu449=
XM_011529840.1:c.1260T>A	XP_011528142.1:p.Leu420=
XM_011529841.1:c.1116T>A	XP_011528143.1:p.Leu372=
XM_011529842.1:c.1017T>A	XP_011528144.1:p.Leu339=
XM_011529843.1:c.987T>A	XP_011528145.1:p.Leu329=
XM_011529845.1:c.525T>A	XP_011528147.1:p.Leu175=
XR_937805.1:n.1347T>A
NM_001349956.1:c.987T>A	NP_001336885.1:p.Leu329=
NM_007194.4:c.1188T>A MANE Select	NP_009125.1:p.Leu396=
XM_006724114.3:c.741T>A	XP_006724177.2:p.Leu247=
XM_011529839.2:c.1347T>A	XP_011528141.1:p.Leu449=
XM_011529840.3:c.1260T>A	XP_011528142.1:p.Leu420=
XM_011529842.2:c.1017T>A	XP_011528144.1:p.Leu339=
XM_011529845.2:c.525T>A	XP_011528147.1:p.Leu175=
XM_017028560.1:c.1311T>A	XP_016884049.1:p.Leu437=
XM_017028561.2:c.525T>A	XP_016884050.1:p.Leu175=
XM_024452148.1:c.1218T>A	XP_024307916.1:p.Leu406=
XM_024452149.1:c.1131T>A	XP_024307917.1:p.Leu377=
XR_937805.2:n.1358T>A
NM_001005735.2:c.1317T>A	NP_001005735.1:p.Leu439=
NM_001257387.2:c.525T>A	NP_001244316.1:p.Leu175=
NM_001349956.2:c.987T>A	NP_001336885.1:p.Leu329=