Canonical Allele Identifier: CA411099401

Gene: CHEK2

Linked Data

• MyVariant Identifiers: chr22:g.29095837A>T (hg19) ; chr22:g.28699849A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699849A>T , CM000684.2:g.28699849A>T	GRCh38
NC_000022.10:g.29095837A>T , CM000684.1:g.29095837A>T	GRCh37
NC_000022.9:g.27425837A>T	NCBI36
NG_008150.1:g.46986T>A
NG_008150.2:g.47018T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.906T>A	ENSP00000396903.2:n.906T>A
ENST00000711048.1:c.997T>A	ENSP00000518557.1:p.Leu333Met
ENST00000402731.6:c.796T>A	ENSP00000384835.2:p.Leu266Met
ENST00000404276.6:c.997T>A MANE Select	ENSP00000385747.1:p.Leu333Met
ENST00000425190.7:c.334T>A	ENSP00000390244.2:p.Leu112Met
ENST00000464581.6:c.337T>A	ENSP00000483777.2:p.Leu113Met
ENST00000648295.1:n.549T>A
ENST00000649563.1:c.334T>A	ENSP00000496928.1:p.Leu112Met
ENST00000650281.1:c.997T>A	ENSP00000497000.1:p.Leu333Met
ENST00000328354.10:c.997T>A	ENSP00000329178.6:p.Leu333Met
ENST00000348295.7:c.997T>A	ENSP00000329012.5:p.Leu333Met
ENST00000382580.6:c.1126T>A	ENSP00000372023.2:p.Leu376Met
ENST00000402731.5:c.997T>A	ENSP00000384835.1:p.Leu333Met
ENST00000403642.5:c.724T>A	ENSP00000384919.1:p.Leu242Met
ENST00000404276.5:c.997T>A	ENSP00000385747.1:p.Leu333Met
ENST00000405598.5:c.997T>A	ENSP00000386087.1:p.Leu333Met
ENST00000416671.5:c.*487T>A	ENSP00000402225.1:n.*487T>A
ENST00000417588.5:c.906T>A	ENSP00000412901.1:n.906T>A
ENST00000425190.6:c.334T>A	ENSP00000390244.1:p.Leu112Met
ENST00000433028.6:c.*722T>A	ENSP00000403659.1:n.*722T>A
ENST00000433728.5:c.935T>A	ENSP00000404400.1:n.935T>A
ENST00000434810.5:c.228T>A
ENST00000439346.5:c.468T>A	ENSP00000396903.1:n.468T>A
ENST00000447421.5:c.796T>A	ENSP00000397478.2:p.Leu266Met
ENST00000448511.5:c.887T>A	ENSP00000404567.1:n.887T>A
ENST00000456369.5:c.252T>A
ENST00000464581.5:c.337T>A	ENSP00000483777.1:p.Leu113Met
ENST00000491919.5:n.554T>A
NM_001005735.1:c.1126T>A	NP_001005735.1:p.Leu376Met
NM_001257387.1:c.334T>A	NP_001244316.1:p.Leu112Met
NM_007194.3:c.997T>A	NP_009125.1:p.Leu333Met
NM_145862.2:c.997T>A	NP_665861.1:p.Leu333Met
XM_006724114.2:c.517T>A	XP_006724177.1:p.Leu173Met
XM_006724116.2:c.454T>A	XP_006724179.2:p.Leu152Met
XM_011529839.1:c.1156T>A	XP_011528141.1:p.Leu386Met
XM_011529840.1:c.1156T>A	XP_011528142.1:p.Leu386Met
XM_011529841.1:c.925T>A	XP_011528143.1:p.Leu309Met
XM_011529842.1:c.826T>A	XP_011528144.1:p.Leu276Met
XM_011529843.1:c.796T>A	XP_011528145.1:p.Leu266Met
XM_011529844.1:c.1156T>A	XP_011528146.1:p.Leu386Met
XM_011529845.1:c.334T>A	XP_011528147.1:p.Leu112Met
XR_937805.1:n.1156T>A
XR_937806.1:n.1151T>A
XR_937807.1:n.1151T>A
NM_001349956.1:c.796T>A	NP_001336885.1:p.Leu266Met
NM_007194.4:c.997T>A MANE Select	NP_009125.1:p.Leu333Met
XM_006724114.3:c.550T>A	XP_006724177.2:p.Leu184Met
XM_011529839.2:c.1156T>A	XP_011528141.1:p.Leu386Met
XM_011529840.3:c.1156T>A	XP_011528142.1:p.Leu386Met
XM_011529842.2:c.826T>A	XP_011528144.1:p.Leu276Met
XM_011529844.2:c.1156T>A	XP_011528146.1:p.Leu386Met
XM_011529845.2:c.334T>A	XP_011528147.1:p.Leu112Met
XM_017028560.1:c.1120T>A	XP_016884049.1:p.Leu374Met
XM_017028561.2:c.334T>A	XP_016884050.1:p.Leu112Met
XM_024452148.1:c.1027T>A	XP_024307916.1:p.Leu343Met
XM_024452149.1:c.1027T>A	XP_024307917.1:p.Leu343Met
XR_937805.2:n.1167T>A
XR_937806.2:n.1167T>A
XR_937807.2:n.1167T>A
NM_001005735.2:c.1126T>A	NP_001005735.1:p.Leu376Met
NM_001257387.2:c.334T>A	NP_001244316.1:p.Leu112Met
NM_001349956.2:c.796T>A	NP_001336885.1:p.Leu266Met