Canonical Allele Identifier: CA411096760

Gene: CHEK2

Linked Data

• dbSNP Id: rs758206293
• MyVariant Identifiers: chr22:g.29091753C>G (hg19) ; chr22:g.28695765C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695765C>G , CM000684.2:g.28695765C>G	GRCh38
NC_000022.10:g.29091753C>G , CM000684.1:g.29091753C>G	GRCh37
NC_000022.9:g.27421753C>G	NCBI36
NG_008150.1:g.51070G>C
NG_008150.2:g.51102G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-523G>C	ENSP00000518557.1:n.1009-523G>C
ENST00000402731.6:c.1003G>C	ENSP00000384835.2:p.Ala335Pro
ENST00000404276.6:c.1204G>C MANE Select	ENSP00000385747.1:p.Ala402Pro
ENST00000425190.7:c.541G>C	ENSP00000390244.2:p.Ala181Pro
ENST00000464581.6:c.544G>C	ENSP00000483777.2:p.Ala182Pro
ENST00000648295.1:n.756G>C
ENST00000649563.1:c.541G>C	ENSP00000496928.1:p.Ala181Pro
ENST00000650281.1:c.1204G>C	ENSP00000497000.1:p.Ala402Pro
ENST00000328354.10:c.1204G>C	ENSP00000329178.6:p.Ala402Pro
ENST00000348295.7:c.1117G>C	ENSP00000329012.5:p.Ala373Pro
ENST00000382580.6:c.1333G>C	ENSP00000372023.2:p.Ala445Pro
ENST00000402731.5:c.1117G>C	ENSP00000384835.1:p.Ala373Pro
ENST00000403642.5:c.931G>C	ENSP00000384919.1:p.Ala311Pro
ENST00000404276.5:c.1204G>C	ENSP00000385747.1:p.Ala402Pro
ENST00000405598.5:c.1204G>C	ENSP00000386087.1:p.Ala402Pro
ENST00000416671.5:c.*694G>C	ENSP00000402225.1:n.*694G>C
ENST00000417588.5:c.1113G>C	ENSP00000412901.1:n.1113G>C
ENST00000433728.5:c.1142G>C	ENSP00000404400.1:n.1142G>C
ENST00000434810.5:c.435G>C
ENST00000448511.5:c.1094G>C	ENSP00000404567.1:n.1094G>C
ENST00000456369.5:c.263+4073G>C
NM_001005735.1:c.1333G>C	NP_001005735.1:p.Ala445Pro
NM_001257387.1:c.541G>C	NP_001244316.1:p.Ala181Pro
NM_007194.3:c.1204G>C	NP_009125.1:p.Ala402Pro
NM_145862.2:c.1117G>C	NP_665861.1:p.Ala373Pro
XM_006724114.2:c.724G>C	XP_006724177.1:p.Ala242Pro
XM_006724116.2:c.661G>C	XP_006724179.2:p.Ala221Pro
XM_011529839.1:c.1363G>C	XP_011528141.1:p.Ala455Pro
XM_011529840.1:c.1276G>C	XP_011528142.1:p.Ala426Pro
XM_011529841.1:c.1132G>C	XP_011528143.1:p.Ala378Pro
XM_011529842.1:c.1033G>C	XP_011528144.1:p.Ala345Pro
XM_011529843.1:c.1003G>C	XP_011528145.1:p.Ala335Pro
XM_011529845.1:c.541G>C	XP_011528147.1:p.Ala181Pro
XR_937805.1:n.1363G>C
NM_001349956.1:c.1003G>C	NP_001336885.1:p.Ala335Pro
NM_007194.4:c.1204G>C MANE Select	NP_009125.1:p.Ala402Pro
XM_006724114.3:c.757G>C	XP_006724177.2:p.Ala253Pro
XM_011529839.2:c.1363G>C	XP_011528141.1:p.Ala455Pro
XM_011529840.3:c.1276G>C	XP_011528142.1:p.Ala426Pro
XM_011529842.2:c.1033G>C	XP_011528144.1:p.Ala345Pro
XM_011529845.2:c.541G>C	XP_011528147.1:p.Ala181Pro
XM_017028560.1:c.1327G>C	XP_016884049.1:p.Ala443Pro
XM_017028561.2:c.541G>C	XP_016884050.1:p.Ala181Pro
XM_024452148.1:c.1234G>C	XP_024307916.1:p.Ala412Pro
XM_024452149.1:c.1147G>C	XP_024307917.1:p.Ala383Pro
XR_937805.2:n.1374G>C
NM_001005735.2:c.1333G>C	NP_001005735.1:p.Ala445Pro
NM_001257387.2:c.541G>C	NP_001244316.1:p.Ala181Pro
NM_001349956.2:c.1003G>C	NP_001336885.1:p.Ala335Pro