Canonical Allele Identifier: CA513944949

Gene: CHEK2

Linked Data

• dbSNP Id: rs1555913920
• MyVariant Identifiers: chr22:g.29091847C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695859C>G , CM000684.2:g.28695859C>G	GRCh38
NC_000022.10:g.29091847C>G , CM000684.1:g.29091847C>G	GRCh37
NC_000022.9:g.27421847C>G	NCBI36
NG_008150.1:g.50976G>C
NG_008150.2:g.51008G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-617G>C	ENSP00000518557.1:n.1009-617G>C
ENST00000402731.6:c.909G>C	ENSP00000384835.2:p.Gly303=
ENST00000404276.6:c.1110G>C MANE Select	ENSP00000385747.1:p.Gly370=
ENST00000425190.7:c.447G>C	ENSP00000390244.2:p.Gly149=
ENST00000464581.6:c.450G>C	ENSP00000483777.2:p.Gly150=
ENST00000648295.1:n.662G>C
ENST00000649563.1:c.447G>C	ENSP00000496928.1:p.Gly149=
ENST00000650281.1:c.1110G>C	ENSP00000497000.1:p.Gly370=
ENST00000328354.10:c.1110G>C	ENSP00000329178.6:p.Gly370=
ENST00000348295.7:c.1023G>C	ENSP00000329012.5:p.Gly341=
ENST00000382580.6:c.1239G>C	ENSP00000372023.2:p.Gly413=
ENST00000402731.5:c.1023G>C	ENSP00000384835.1:p.Gly341=
ENST00000403642.5:c.837G>C	ENSP00000384919.1:p.Gly279=
ENST00000404276.5:c.1110G>C	ENSP00000385747.1:p.Gly370=
ENST00000405598.5:c.1110G>C	ENSP00000386087.1:p.Gly370=
ENST00000416671.5:c.*600G>C	ENSP00000402225.1:n.*600G>C
ENST00000417588.5:c.1019G>C	ENSP00000412901.1:n.1019G>C
ENST00000433728.5:c.1048G>C	ENSP00000404400.1:n.1048G>C
ENST00000434810.5:c.341G>C
ENST00000448511.5:c.1000G>C	ENSP00000404567.1:n.1000G>C
ENST00000456369.5:c.263+3979G>C
NM_001005735.1:c.1239G>C	NP_001005735.1:p.Gly413=
NM_001257387.1:c.447G>C	NP_001244316.1:p.Gly149=
NM_007194.3:c.1110G>C	NP_009125.1:p.Gly370=
NM_145862.2:c.1023G>C	NP_665861.1:p.Gly341=
XM_006724114.2:c.630G>C	XP_006724177.1:p.Gly210=
XM_006724116.2:c.567G>C	XP_006724179.2:p.Gly189=
XM_011529839.1:c.1269G>C	XP_011528141.1:p.Gly423=
XM_011529840.1:c.1182G>C	XP_011528142.1:p.Gly394=
XM_011529841.1:c.1038G>C	XP_011528143.1:p.Gly346=
XM_011529842.1:c.939G>C	XP_011528144.1:p.Gly313=
XM_011529843.1:c.909G>C	XP_011528145.1:p.Gly303=
XM_011529845.1:c.447G>C	XP_011528147.1:p.Gly149=
XR_937805.1:n.1269G>C
XR_937806.1:n.1177G>C
NM_001349956.1:c.909G>C	NP_001336885.1:p.Gly303=
NM_007194.4:c.1110G>C MANE Select	NP_009125.1:p.Gly370=
XM_006724114.3:c.663G>C	XP_006724177.2:p.Gly221=
XM_011529839.2:c.1269G>C	XP_011528141.1:p.Gly423=
XM_011529840.3:c.1182G>C	XP_011528142.1:p.Gly394=
XM_011529842.2:c.939G>C	XP_011528144.1:p.Gly313=
XM_011529845.2:c.447G>C	XP_011528147.1:p.Gly149=
XM_017028560.1:c.1233G>C	XP_016884049.1:p.Gly411=
XM_017028561.2:c.447G>C	XP_016884050.1:p.Gly149=
XM_024452148.1:c.1140G>C	XP_024307916.1:p.Gly380=
XM_024452149.1:c.1053G>C	XP_024307917.1:p.Gly351=
XR_937805.2:n.1280G>C
XR_937806.2:n.1193G>C
NM_001005735.2:c.1239G>C	NP_001005735.1:p.Gly413=
NM_001257387.2:c.447G>C	NP_001244316.1:p.Gly149=
NM_001349956.2:c.909G>C	NP_001336885.1:p.Gly303=