Canonical Allele Identifier: CA411097469

Gene: CHEK2

Linked Data

• gnomAD v4: 22-28696908-A-G
• MyVariant Identifiers: chr22:g.29092896A>G (hg19) ; chr22:g.28696908A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696908A>G , CM000684.2:g.28696908A>G	GRCh38
NC_000022.10:g.29092896A>G , CM000684.1:g.29092896A>G	GRCh37
NC_000022.9:g.27422896A>G	NCBI36
NG_008150.1:g.49927T>C
NG_008150.2:g.49959T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-1666T>C	ENSP00000518557.1:n.1009-1666T>C
ENST00000402731.6:c.887T>C	ENSP00000384835.2:p.Leu296Pro
ENST00000404276.6:c.1088T>C MANE Select	ENSP00000385747.1:p.Leu363Pro
ENST00000425190.7:c.425T>C	ENSP00000390244.2:p.Leu142Pro
ENST00000464581.6:c.428T>C	ENSP00000483777.2:p.Leu143Pro
ENST00000648295.1:n.640T>C
ENST00000649563.1:c.425T>C	ENSP00000496928.1:p.Leu142Pro
ENST00000650281.1:c.1088T>C	ENSP00000497000.1:p.Leu363Pro
ENST00000328354.10:c.1088T>C	ENSP00000329178.6:p.Leu363Pro
ENST00000348295.7:c.1009-1035T>C	ENSP00000329012.5:n.1009-1035T>C
ENST00000382580.6:c.1217T>C	ENSP00000372023.2:p.Leu406Pro
ENST00000402731.5:c.1009-1035T>C	ENSP00000384835.1:n.1009-1035T>C
ENST00000403642.5:c.815T>C	ENSP00000384919.1:p.Leu272Pro
ENST00000404276.5:c.1088T>C	ENSP00000385747.1:p.Leu363Pro
ENST00000405598.5:c.1088T>C	ENSP00000386087.1:p.Leu363Pro
ENST00000416671.5:c.*578T>C	ENSP00000402225.1:n.*578T>C
ENST00000417588.5:c.997T>C	ENSP00000412901.1:n.997T>C
ENST00000433028.6:c.*813T>C	ENSP00000403659.1:n.*813T>C
ENST00000433728.5:c.1026T>C	ENSP00000404400.1:n.1026T>C
ENST00000434810.5:c.319T>C
ENST00000447421.5:c.887T>C	ENSP00000397478.2:p.Leu296Pro
ENST00000448511.5:c.978T>C	ENSP00000404567.1:n.978T>C
ENST00000456369.5:c.263+2930T>C
NM_001005735.1:c.1217T>C	NP_001005735.1:p.Leu406Pro
NM_001257387.1:c.425T>C	NP_001244316.1:p.Leu142Pro
NM_007194.3:c.1088T>C	NP_009125.1:p.Leu363Pro
NM_145862.2:c.1009-1035T>C	NP_665861.1:n.1009-1035T>C
XM_006724114.2:c.608T>C	XP_006724177.1:p.Leu203Pro
XM_006724116.2:c.545T>C	XP_006724179.2:p.Leu182Pro
XM_011529839.1:c.1247T>C	XP_011528141.1:p.Leu416Pro
XM_011529840.1:c.1168-1035T>C	XP_011528142.1:n.1168-1035T>C
XM_011529841.1:c.1016T>C	XP_011528143.1:p.Leu339Pro
XM_011529842.1:c.917T>C	XP_011528144.1:p.Leu306Pro
XM_011529843.1:c.887T>C	XP_011528145.1:p.Leu296Pro
XM_011529845.1:c.425T>C	XP_011528147.1:p.Leu142Pro
XR_937805.1:n.1247T>C
XR_937806.1:n.1163-1035T>C
NM_001349956.1:c.887T>C	NP_001336885.1:p.Leu296Pro
NM_007194.4:c.1088T>C MANE Select	NP_009125.1:p.Leu363Pro
XM_006724114.3:c.641T>C	XP_006724177.2:p.Leu214Pro
XM_011529839.2:c.1247T>C	XP_011528141.1:p.Leu416Pro
XM_011529840.3:c.1168-1035T>C	XP_011528142.1:n.1168-1035T>C
XM_011529842.2:c.917T>C	XP_011528144.1:p.Leu306Pro
XM_011529845.2:c.425T>C	XP_011528147.1:p.Leu142Pro
XM_017028560.1:c.1211T>C	XP_016884049.1:p.Leu404Pro
XM_017028561.2:c.425T>C	XP_016884050.1:p.Leu142Pro
XM_024452148.1:c.1118T>C	XP_024307916.1:p.Leu373Pro
XM_024452149.1:c.1039-1035T>C	XP_024307917.1:n.1039-1035T>C
XR_937805.2:n.1258T>C
XR_937806.2:n.1179-1035T>C
NM_001005735.2:c.1217T>C	NP_001005735.1:p.Leu406Pro
NM_001257387.2:c.425T>C	NP_001244316.1:p.Leu142Pro
NM_001349956.2:c.887T>C	NP_001336885.1:p.Leu296Pro