Canonical Allele Identifier: CA411097848

Gene: CHEK2

Linked Data

• gnomAD v4: 22-28696984-G-T
• MyVariant Identifiers: chr22:g.29092972G>T (hg19) ; chr22:g.28696984G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696984G>T , CM000684.2:g.28696984G>T	GRCh38
NC_000022.10:g.29092972G>T , CM000684.1:g.29092972G>T	GRCh37
NC_000022.9:g.27422972G>T	NCBI36
NG_008150.1:g.49851C>A
NG_008150.2:g.49883C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1742C>A	ENSP00000518557.1:n.1009-1742C>A
ENST00000402731.6:c.811C>A	ENSP00000384835.2:p.Leu271Ile
ENST00000404276.6:c.1012C>A MANE Select	ENSP00000385747.1:p.Leu338Ile
ENST00000425190.7:c.349C>A	ENSP00000390244.2:p.Leu117Ile
ENST00000464581.6:c.352C>A	ENSP00000483777.2:p.Leu118Ile
ENST00000648295.1:n.564C>A
ENST00000649563.1:c.349C>A	ENSP00000496928.1:p.Leu117Ile
ENST00000650281.1:c.1012C>A	ENSP00000497000.1:p.Leu338Ile
ENST00000328354.10:c.1012C>A	ENSP00000329178.6:p.Leu338Ile
ENST00000348295.7:c.1009-1111C>A	ENSP00000329012.5:n.1009-1111C>A
ENST00000382580.6:c.1141C>A	ENSP00000372023.2:p.Leu381Ile
ENST00000402731.5:c.1009-1111C>A	ENSP00000384835.1:n.1009-1111C>A
ENST00000403642.5:c.739C>A	ENSP00000384919.1:p.Leu247Ile
ENST00000404276.5:c.1012C>A	ENSP00000385747.1:p.Leu338Ile
ENST00000405598.5:c.1012C>A	ENSP00000386087.1:p.Leu338Ile
ENST00000416671.5:c.*502C>A	ENSP00000402225.1:n.*502C>A
ENST00000417588.5:c.921C>A	ENSP00000412901.1:n.921C>A
ENST00000425190.6:c.349C>A	ENSP00000390244.1:p.Leu117Ile
ENST00000433028.6:c.*737C>A	ENSP00000403659.1:n.*737C>A
ENST00000433728.5:c.950C>A	ENSP00000404400.1:n.950C>A
ENST00000434810.5:c.243C>A
ENST00000447421.5:c.811C>A	ENSP00000397478.2:p.Leu271Ile
ENST00000448511.5:c.902C>A	ENSP00000404567.1:n.902C>A
ENST00000456369.5:c.263+2854C>A
ENST00000464581.5:c.352C>A	ENSP00000483777.1:p.Leu118Ile
ENST00000491919.5:n.569C>A
NM_001005735.1:c.1141C>A	NP_001005735.1:p.Leu381Ile
NM_001257387.1:c.349C>A	NP_001244316.1:p.Leu117Ile
NM_007194.3:c.1012C>A	NP_009125.1:p.Leu338Ile
NM_145862.2:c.1009-1111C>A	NP_665861.1:n.1009-1111C>A
XM_006724114.2:c.532C>A	XP_006724177.1:p.Leu178Ile
XM_006724116.2:c.469C>A	XP_006724179.2:p.Leu157Ile
XM_011529839.1:c.1171C>A	XP_011528141.1:p.Leu391Ile
XM_011529840.1:c.1168-1111C>A	XP_011528142.1:n.1168-1111C>A
XM_011529841.1:c.940C>A	XP_011528143.1:p.Leu314Ile
XM_011529842.1:c.841C>A	XP_011528144.1:p.Leu281Ile
XM_011529843.1:c.811C>A	XP_011528145.1:p.Leu271Ile
XM_011529845.1:c.349C>A	XP_011528147.1:p.Leu117Ile
XR_937805.1:n.1171C>A
XR_937806.1:n.1163-1111C>A
NM_001349956.1:c.811C>A	NP_001336885.1:p.Leu271Ile
NM_007194.4:c.1012C>A MANE Select	NP_009125.1:p.Leu338Ile
XM_006724114.3:c.565C>A	XP_006724177.2:p.Leu189Ile
XM_011529839.2:c.1171C>A	XP_011528141.1:p.Leu391Ile
XM_011529840.3:c.1168-1111C>A	XP_011528142.1:n.1168-1111C>A
XM_011529842.2:c.841C>A	XP_011528144.1:p.Leu281Ile
XM_011529845.2:c.349C>A	XP_011528147.1:p.Leu117Ile
XM_017028560.1:c.1135C>A	XP_016884049.1:p.Leu379Ile
XM_017028561.2:c.349C>A	XP_016884050.1:p.Leu117Ile
XM_024452148.1:c.1042C>A	XP_024307916.1:p.Leu348Ile
XM_024452149.1:c.1039-1111C>A	XP_024307917.1:n.1039-1111C>A
XR_937805.2:n.1182C>A
XR_937806.2:n.1179-1111C>A
NM_001005735.2:c.1141C>A	NP_001005735.1:p.Leu381Ile
NM_001257387.2:c.349C>A	NP_001244316.1:p.Leu117Ile
NM_001349956.2:c.811C>A	NP_001336885.1:p.Leu271Ile