Canonical Allele Identifier: CA513944929

Gene: CHEK2

Linked Data

• MyVariant Identifiers: chr22:g.29091813T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695825T>G , CM000684.2:g.28695825T>G	GRCh38
NC_000022.10:g.29091813T>G , CM000684.1:g.29091813T>G	GRCh37
NC_000022.9:g.27421813T>G	NCBI36
NG_008150.1:g.51010A>C
NG_008150.2:g.51042A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-583A>C	ENSP00000518557.1:n.1009-583A>C
ENST00000402731.6:c.943A>C	ENSP00000384835.2:p.Arg315=
ENST00000404276.6:c.1144A>C MANE Select	ENSP00000385747.1:p.Arg382=
ENST00000425190.7:c.481A>C	ENSP00000390244.2:p.Arg161=
ENST00000464581.6:c.484A>C	ENSP00000483777.2:p.Arg162=
ENST00000648295.1:n.696A>C
ENST00000649563.1:c.481A>C	ENSP00000496928.1:p.Arg161=
ENST00000650281.1:c.1144A>C	ENSP00000497000.1:p.Arg382=
ENST00000328354.10:c.1144A>C	ENSP00000329178.6:p.Arg382=
ENST00000348295.7:c.1057A>C	ENSP00000329012.5:p.Arg353=
ENST00000382580.6:c.1273A>C	ENSP00000372023.2:p.Arg425=
ENST00000402731.5:c.1057A>C	ENSP00000384835.1:p.Arg353=
ENST00000403642.5:c.871A>C	ENSP00000384919.1:p.Arg291=
ENST00000404276.5:c.1144A>C	ENSP00000385747.1:p.Arg382=
ENST00000405598.5:c.1144A>C	ENSP00000386087.1:p.Arg382=
ENST00000416671.5:c.*634A>C	ENSP00000402225.1:n.*634A>C
ENST00000417588.5:c.1053A>C	ENSP00000412901.1:n.1053A>C
ENST00000433728.5:c.1082A>C	ENSP00000404400.1:n.1082A>C
ENST00000434810.5:c.375A>C
ENST00000448511.5:c.1034A>C	ENSP00000404567.1:n.1034A>C
ENST00000456369.5:c.263+4013A>C
NM_001005735.1:c.1273A>C	NP_001005735.1:p.Arg425=
NM_001257387.1:c.481A>C	NP_001244316.1:p.Arg161=
NM_007194.3:c.1144A>C	NP_009125.1:p.Arg382=
NM_145862.2:c.1057A>C	NP_665861.1:p.Arg353=
XM_006724114.2:c.664A>C	XP_006724177.1:p.Arg222=
XM_006724116.2:c.601A>C	XP_006724179.2:p.Arg201=
XM_011529839.1:c.1303A>C	XP_011528141.1:p.Arg435=
XM_011529840.1:c.1216A>C	XP_011528142.1:p.Arg406=
XM_011529841.1:c.1072A>C	XP_011528143.1:p.Arg358=
XM_011529842.1:c.973A>C	XP_011528144.1:p.Arg325=
XM_011529843.1:c.943A>C	XP_011528145.1:p.Arg315=
XM_011529845.1:c.481A>C	XP_011528147.1:p.Arg161=
XR_937805.1:n.1303A>C
XR_937806.1:n.1211A>C
NM_001349956.1:c.943A>C	NP_001336885.1:p.Arg315=
NM_007194.4:c.1144A>C MANE Select	NP_009125.1:p.Arg382=
XM_006724114.3:c.697A>C	XP_006724177.2:p.Arg233=
XM_011529839.2:c.1303A>C	XP_011528141.1:p.Arg435=
XM_011529840.3:c.1216A>C	XP_011528142.1:p.Arg406=
XM_011529842.2:c.973A>C	XP_011528144.1:p.Arg325=
XM_011529845.2:c.481A>C	XP_011528147.1:p.Arg161=
XM_017028560.1:c.1267A>C	XP_016884049.1:p.Arg423=
XM_017028561.2:c.481A>C	XP_016884050.1:p.Arg161=
XM_024452148.1:c.1174A>C	XP_024307916.1:p.Arg392=
XM_024452149.1:c.1087A>C	XP_024307917.1:p.Arg363=
XR_937805.2:n.1314A>C
XR_937806.2:n.1227A>C
NM_001005735.2:c.1273A>C	NP_001005735.1:p.Arg425=
NM_001257387.2:c.481A>C	NP_001244316.1:p.Arg161=
NM_001349956.2:c.943A>C	NP_001336885.1:p.Arg315=