Canonical Allele Identifier: CA411096928

Gene: CHEK2

Linked Data

• MyVariant Identifiers: chr22:g.29091812C>G (hg19) ; chr22:g.28695824C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695824C>G , CM000684.2:g.28695824C>G	GRCh38
NC_000022.10:g.29091812C>G , CM000684.1:g.29091812C>G	GRCh37
NC_000022.9:g.27421812C>G	NCBI36
NG_008150.1:g.51011G>C
NG_008150.2:g.51043G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-582G>C	ENSP00000518557.1:n.1009-582G>C
ENST00000402731.6:c.944G>C	ENSP00000384835.2:p.Arg315Thr
ENST00000404276.6:c.1145G>C MANE Select	ENSP00000385747.1:p.Arg382Thr
ENST00000425190.7:c.482G>C	ENSP00000390244.2:p.Arg161Thr
ENST00000464581.6:c.485G>C	ENSP00000483777.2:p.Arg162Thr
ENST00000648295.1:n.697G>C
ENST00000649563.1:c.482G>C	ENSP00000496928.1:p.Arg161Thr
ENST00000650281.1:c.1145G>C	ENSP00000497000.1:p.Arg382Thr
ENST00000328354.10:c.1145G>C	ENSP00000329178.6:p.Arg382Thr
ENST00000348295.7:c.1058G>C	ENSP00000329012.5:p.Arg353Thr
ENST00000382580.6:c.1274G>C	ENSP00000372023.2:p.Arg425Thr
ENST00000402731.5:c.1058G>C	ENSP00000384835.1:p.Arg353Thr
ENST00000403642.5:c.872G>C	ENSP00000384919.1:p.Arg291Thr
ENST00000404276.5:c.1145G>C	ENSP00000385747.1:p.Arg382Thr
ENST00000405598.5:c.1145G>C	ENSP00000386087.1:p.Arg382Thr
ENST00000416671.5:c.*635G>C	ENSP00000402225.1:n.*635G>C
ENST00000417588.5:c.1054G>C	ENSP00000412901.1:n.1054G>C
ENST00000433728.5:c.1083G>C	ENSP00000404400.1:n.1083G>C
ENST00000434810.5:c.376G>C
ENST00000448511.5:c.1035G>C	ENSP00000404567.1:n.1035G>C
ENST00000456369.5:c.263+4014G>C
NM_001005735.1:c.1274G>C	NP_001005735.1:p.Arg425Thr
NM_001257387.1:c.482G>C	NP_001244316.1:p.Arg161Thr
NM_007194.3:c.1145G>C	NP_009125.1:p.Arg382Thr
NM_145862.2:c.1058G>C	NP_665861.1:p.Arg353Thr
XM_006724114.2:c.665G>C	XP_006724177.1:p.Arg222Thr
XM_006724116.2:c.602G>C	XP_006724179.2:p.Arg201Thr
XM_011529839.1:c.1304G>C	XP_011528141.1:p.Arg435Thr
XM_011529840.1:c.1217G>C	XP_011528142.1:p.Arg406Thr
XM_011529841.1:c.1073G>C	XP_011528143.1:p.Arg358Thr
XM_011529842.1:c.974G>C	XP_011528144.1:p.Arg325Thr
XM_011529843.1:c.944G>C	XP_011528145.1:p.Arg315Thr
XM_011529845.1:c.482G>C	XP_011528147.1:p.Arg161Thr
XR_937805.1:n.1304G>C
XR_937806.1:n.1212G>C
NM_001349956.1:c.944G>C	NP_001336885.1:p.Arg315Thr
NM_007194.4:c.1145G>C MANE Select	NP_009125.1:p.Arg382Thr
XM_006724114.3:c.698G>C	XP_006724177.2:p.Arg233Thr
XM_011529839.2:c.1304G>C	XP_011528141.1:p.Arg435Thr
XM_011529840.3:c.1217G>C	XP_011528142.1:p.Arg406Thr
XM_011529842.2:c.974G>C	XP_011528144.1:p.Arg325Thr
XM_011529845.2:c.482G>C	XP_011528147.1:p.Arg161Thr
XM_017028560.1:c.1268G>C	XP_016884049.1:p.Arg423Thr
XM_017028561.2:c.482G>C	XP_016884050.1:p.Arg161Thr
XM_024452148.1:c.1175G>C	XP_024307916.1:p.Arg392Thr
XM_024452149.1:c.1088G>C	XP_024307917.1:p.Arg363Thr
XR_937805.2:n.1315G>C
XR_937806.2:n.1228G>C
NM_001005735.2:c.1274G>C	NP_001005735.1:p.Arg425Thr
NM_001257387.2:c.482G>C	NP_001244316.1:p.Arg161Thr
NM_001349956.2:c.944G>C	NP_001336885.1:p.Arg315Thr