Canonical Allele Identifier: CA513944922

Gene: CHEK2

Linked Data

• dbSNP Id: rs2145805017
• MyVariant Identifiers: chr22:g.29091802A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695814A>G , CM000684.2:g.28695814A>G	GRCh38
NC_000022.10:g.29091802A>G , CM000684.1:g.29091802A>G	GRCh37
NC_000022.9:g.27421802A>G	NCBI36
NG_008150.1:g.51021T>C
NG_008150.2:g.51053T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-572T>C	ENSP00000518557.1:n.1009-572T>C
ENST00000402731.6:c.954T>C	ENSP00000384835.2:p.Cys318=
ENST00000404276.6:c.1155T>C MANE Select	ENSP00000385747.1:p.Cys385=
ENST00000425190.7:c.492T>C	ENSP00000390244.2:p.Cys164=
ENST00000464581.6:c.495T>C	ENSP00000483777.2:p.Cys165=
ENST00000648295.1:n.707T>C
ENST00000649563.1:c.492T>C	ENSP00000496928.1:p.Cys164=
ENST00000650281.1:c.1155T>C	ENSP00000497000.1:p.Cys385=
ENST00000328354.10:c.1155T>C	ENSP00000329178.6:p.Cys385=
ENST00000348295.7:c.1068T>C	ENSP00000329012.5:p.Cys356=
ENST00000382580.6:c.1284T>C	ENSP00000372023.2:p.Cys428=
ENST00000402731.5:c.1068T>C	ENSP00000384835.1:p.Cys356=
ENST00000403642.5:c.882T>C	ENSP00000384919.1:p.Cys294=
ENST00000404276.5:c.1155T>C	ENSP00000385747.1:p.Cys385=
ENST00000405598.5:c.1155T>C	ENSP00000386087.1:p.Cys385=
ENST00000416671.5:c.*645T>C	ENSP00000402225.1:n.*645T>C
ENST00000417588.5:c.1064T>C	ENSP00000412901.1:n.1064T>C
ENST00000433728.5:c.1093T>C	ENSP00000404400.1:n.1093T>C
ENST00000434810.5:c.386T>C
ENST00000448511.5:c.1045T>C	ENSP00000404567.1:n.1045T>C
ENST00000456369.5:c.263+4024T>C
NM_001005735.1:c.1284T>C	NP_001005735.1:p.Cys428=
NM_001257387.1:c.492T>C	NP_001244316.1:p.Cys164=
NM_007194.3:c.1155T>C	NP_009125.1:p.Cys385=
NM_145862.2:c.1068T>C	NP_665861.1:p.Cys356=
XM_006724114.2:c.675T>C	XP_006724177.1:p.Cys225=
XM_006724116.2:c.612T>C	XP_006724179.2:p.Cys204=
XM_011529839.1:c.1314T>C	XP_011528141.1:p.Cys438=
XM_011529840.1:c.1227T>C	XP_011528142.1:p.Cys409=
XM_011529841.1:c.1083T>C	XP_011528143.1:p.Cys361=
XM_011529842.1:c.984T>C	XP_011528144.1:p.Cys328=
XM_011529843.1:c.954T>C	XP_011528145.1:p.Cys318=
XM_011529845.1:c.492T>C	XP_011528147.1:p.Cys164=
XR_937805.1:n.1314T>C
XR_937806.1:n.1222T>C
NM_001349956.1:c.954T>C	NP_001336885.1:p.Cys318=
NM_007194.4:c.1155T>C MANE Select	NP_009125.1:p.Cys385=
XM_006724114.3:c.708T>C	XP_006724177.2:p.Cys236=
XM_011529839.2:c.1314T>C	XP_011528141.1:p.Cys438=
XM_011529840.3:c.1227T>C	XP_011528142.1:p.Cys409=
XM_011529842.2:c.984T>C	XP_011528144.1:p.Cys328=
XM_011529845.2:c.492T>C	XP_011528147.1:p.Cys164=
XM_017028560.1:c.1278T>C	XP_016884049.1:p.Cys426=
XM_017028561.2:c.492T>C	XP_016884050.1:p.Cys164=
XM_024452148.1:c.1185T>C	XP_024307916.1:p.Cys395=
XM_024452149.1:c.1098T>C	XP_024307917.1:p.Cys366=
XR_937805.2:n.1325T>C
XR_937806.2:n.1238T>C
NM_001005735.2:c.1284T>C	NP_001005735.1:p.Cys428=
NM_001257387.2:c.492T>C	NP_001244316.1:p.Cys164=
NM_001349956.2:c.954T>C	NP_001336885.1:p.Cys318=