Canonical Allele Identifier: CA411097827

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 479604
• ClinVar RCV Id: RCV000562095 ; RCV001865716 ; RCV003320192
• dbSNP Id: rs1555914365
• gnomAD v4: 22-28696980-T-C
• MyVariant Identifiers: chr22:g.29092968T>C (hg19) ; chr22:g.28696980T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696980T>C , CM000684.2:g.28696980T>C	GRCh38
NC_000022.10:g.29092968T>C , CM000684.1:g.29092968T>C	GRCh37
NC_000022.9:g.27422968T>C	NCBI36
NG_008150.1:g.49855A>G
NG_008150.2:g.49887A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1738A>G	ENSP00000518557.1:n.1009-1738A>G
ENST00000402731.6:c.815A>G	ENSP00000384835.2:p.His272Arg
ENST00000404276.6:c.1016A>G MANE Select	ENSP00000385747.1:p.His339Arg
ENST00000425190.7:c.353A>G	ENSP00000390244.2:p.His118Arg
ENST00000464581.6:c.356A>G	ENSP00000483777.2:p.His119Arg
ENST00000648295.1:n.568A>G
ENST00000649563.1:c.353A>G	ENSP00000496928.1:p.His118Arg
ENST00000650281.1:c.1016A>G	ENSP00000497000.1:p.His339Arg
ENST00000328354.10:c.1016A>G	ENSP00000329178.6:p.His339Arg
ENST00000348295.7:c.1009-1107A>G	ENSP00000329012.5:n.1009-1107A>G
ENST00000382580.6:c.1145A>G	ENSP00000372023.2:p.His382Arg
ENST00000402731.5:c.1009-1107A>G	ENSP00000384835.1:n.1009-1107A>G
ENST00000403642.5:c.743A>G	ENSP00000384919.1:p.His248Arg
ENST00000404276.5:c.1016A>G	ENSP00000385747.1:p.His339Arg
ENST00000405598.5:c.1016A>G	ENSP00000386087.1:p.His339Arg
ENST00000416671.5:c.*506A>G	ENSP00000402225.1:n.*506A>G
ENST00000417588.5:c.925A>G	ENSP00000412901.1:n.925A>G
ENST00000425190.6:c.353A>G	ENSP00000390244.1:p.His118Arg
ENST00000433028.6:c.*741A>G	ENSP00000403659.1:n.*741A>G
ENST00000433728.5:c.954A>G	ENSP00000404400.1:n.954A>G
ENST00000434810.5:c.247A>G
ENST00000447421.5:c.815A>G	ENSP00000397478.2:p.His272Arg
ENST00000448511.5:c.906A>G	ENSP00000404567.1:n.906A>G
ENST00000456369.5:c.263+2858A>G
ENST00000464581.5:c.356A>G	ENSP00000483777.1:p.His119Arg
ENST00000491919.5:n.573A>G
NM_001005735.1:c.1145A>G	NP_001005735.1:p.His382Arg
NM_001257387.1:c.353A>G	NP_001244316.1:p.His118Arg
NM_007194.3:c.1016A>G	NP_009125.1:p.His339Arg
NM_145862.2:c.1009-1107A>G	NP_665861.1:n.1009-1107A>G
XM_006724114.2:c.536A>G	XP_006724177.1:p.His179Arg
XM_006724116.2:c.473A>G	XP_006724179.2:p.His158Arg
XM_011529839.1:c.1175A>G	XP_011528141.1:p.His392Arg
XM_011529840.1:c.1168-1107A>G	XP_011528142.1:n.1168-1107A>G
XM_011529841.1:c.944A>G	XP_011528143.1:p.His315Arg
XM_011529842.1:c.845A>G	XP_011528144.1:p.His282Arg
XM_011529843.1:c.815A>G	XP_011528145.1:p.His272Arg
XM_011529845.1:c.353A>G	XP_011528147.1:p.His118Arg
XR_937805.1:n.1175A>G
XR_937806.1:n.1163-1107A>G
NM_001349956.1:c.815A>G	NP_001336885.1:p.His272Arg
NM_007194.4:c.1016A>G MANE Select	NP_009125.1:p.His339Arg
XM_006724114.3:c.569A>G	XP_006724177.2:p.His190Arg
XM_011529839.2:c.1175A>G	XP_011528141.1:p.His392Arg
XM_011529840.3:c.1168-1107A>G	XP_011528142.1:n.1168-1107A>G
XM_011529842.2:c.845A>G	XP_011528144.1:p.His282Arg
XM_011529845.2:c.353A>G	XP_011528147.1:p.His118Arg
XM_017028560.1:c.1139A>G	XP_016884049.1:p.His380Arg
XM_017028561.2:c.353A>G	XP_016884050.1:p.His118Arg
XM_024452148.1:c.1046A>G	XP_024307916.1:p.His349Arg
XM_024452149.1:c.1039-1107A>G	XP_024307917.1:n.1039-1107A>G
XR_937805.2:n.1186A>G
XR_937806.2:n.1179-1107A>G
NM_001005735.2:c.1145A>G	NP_001005735.1:p.His382Arg
NM_001257387.2:c.353A>G	NP_001244316.1:p.His118Arg
NM_001349956.2:c.815A>G	NP_001336885.1:p.His272Arg