Canonical Allele Identifier: CA411096918

Gene: CHEK2

Linked Data

• MyVariant Identifiers: chr22:g.29091810T>G (hg19) ; chr22:g.28695822T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695822T>G , CM000684.2:g.28695822T>G	GRCh38
NC_000022.10:g.29091810T>G , CM000684.1:g.29091810T>G	GRCh37
NC_000022.9:g.27421810T>G	NCBI36
NG_008150.1:g.51013A>C
NG_008150.2:g.51045A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-580A>C	ENSP00000518557.1:n.1009-580A>C
ENST00000402731.6:c.946A>C	ENSP00000384835.2:p.Thr316Pro
ENST00000404276.6:c.1147A>C MANE Select	ENSP00000385747.1:p.Thr383Pro
ENST00000425190.7:c.484A>C	ENSP00000390244.2:p.Thr162Pro
ENST00000464581.6:c.487A>C	ENSP00000483777.2:p.Thr163Pro
ENST00000648295.1:n.699A>C
ENST00000649563.1:c.484A>C	ENSP00000496928.1:p.Thr162Pro
ENST00000650281.1:c.1147A>C	ENSP00000497000.1:p.Thr383Pro
ENST00000328354.10:c.1147A>C	ENSP00000329178.6:p.Thr383Pro
ENST00000348295.7:c.1060A>C	ENSP00000329012.5:p.Thr354Pro
ENST00000382580.6:c.1276A>C	ENSP00000372023.2:p.Thr426Pro
ENST00000402731.5:c.1060A>C	ENSP00000384835.1:p.Thr354Pro
ENST00000403642.5:c.874A>C	ENSP00000384919.1:p.Thr292Pro
ENST00000404276.5:c.1147A>C	ENSP00000385747.1:p.Thr383Pro
ENST00000405598.5:c.1147A>C	ENSP00000386087.1:p.Thr383Pro
ENST00000416671.5:c.*637A>C	ENSP00000402225.1:n.*637A>C
ENST00000417588.5:c.1056A>C	ENSP00000412901.1:n.1056A>C
ENST00000433728.5:c.1085A>C	ENSP00000404400.1:n.1085A>C
ENST00000434810.5:c.378A>C
ENST00000448511.5:c.1037A>C	ENSP00000404567.1:n.1037A>C
ENST00000456369.5:c.263+4016A>C
NM_001005735.1:c.1276A>C	NP_001005735.1:p.Thr426Pro
NM_001257387.1:c.484A>C	NP_001244316.1:p.Thr162Pro
NM_007194.3:c.1147A>C	NP_009125.1:p.Thr383Pro
NM_145862.2:c.1060A>C	NP_665861.1:p.Thr354Pro
XM_006724114.2:c.667A>C	XP_006724177.1:p.Thr223Pro
XM_006724116.2:c.604A>C	XP_006724179.2:p.Thr202Pro
XM_011529839.1:c.1306A>C	XP_011528141.1:p.Thr436Pro
XM_011529840.1:c.1219A>C	XP_011528142.1:p.Thr407Pro
XM_011529841.1:c.1075A>C	XP_011528143.1:p.Thr359Pro
XM_011529842.1:c.976A>C	XP_011528144.1:p.Thr326Pro
XM_011529843.1:c.946A>C	XP_011528145.1:p.Thr316Pro
XM_011529845.1:c.484A>C	XP_011528147.1:p.Thr162Pro
XR_937805.1:n.1306A>C
XR_937806.1:n.1214A>C
NM_001349956.1:c.946A>C	NP_001336885.1:p.Thr316Pro
NM_007194.4:c.1147A>C MANE Select	NP_009125.1:p.Thr383Pro
XM_006724114.3:c.700A>C	XP_006724177.2:p.Thr234Pro
XM_011529839.2:c.1306A>C	XP_011528141.1:p.Thr436Pro
XM_011529840.3:c.1219A>C	XP_011528142.1:p.Thr407Pro
XM_011529842.2:c.976A>C	XP_011528144.1:p.Thr326Pro
XM_011529845.2:c.484A>C	XP_011528147.1:p.Thr162Pro
XM_017028560.1:c.1270A>C	XP_016884049.1:p.Thr424Pro
XM_017028561.2:c.484A>C	XP_016884050.1:p.Thr162Pro
XM_024452148.1:c.1177A>C	XP_024307916.1:p.Thr393Pro
XM_024452149.1:c.1090A>C	XP_024307917.1:p.Thr364Pro
XR_937805.2:n.1317A>C
XR_937806.2:n.1230A>C
NM_001005735.2:c.1276A>C	NP_001005735.1:p.Thr426Pro
NM_001257387.2:c.484A>C	NP_001244316.1:p.Thr162Pro
NM_001349956.2:c.946A>C	NP_001336885.1:p.Thr316Pro