Canonical Allele Identifier: CA411097829

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 959676
• ClinVar RCV Id: RCV001233064
• dbSNP Id: rs1555914365
• MyVariant Identifiers: chr22:g.29092968T>G (hg19) ; chr22:g.28696980T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1738A>C	ENSP00000518557.1:n.1009-1738A>C
ENST00000402731.6:c.815A>C	ENSP00000384835.2:p.His272Pro
ENST00000404276.6:c.1016A>C MANE Select	ENSP00000385747.1:p.His339Pro
ENST00000425190.7:c.353A>C	ENSP00000390244.2:p.His118Pro
ENST00000464581.6:c.356A>C	ENSP00000483777.2:p.His119Pro
ENST00000648295.1:n.568A>C
ENST00000649563.1:c.353A>C	ENSP00000496928.1:p.His118Pro
ENST00000650281.1:c.1016A>C	ENSP00000497000.1:p.His339Pro
ENST00000328354.10:c.1016A>C	ENSP00000329178.6:p.His339Pro
ENST00000348295.7:c.1009-1107A>C	ENSP00000329012.5:n.1009-1107A>C
ENST00000382580.6:c.1145A>C	ENSP00000372023.2:p.His382Pro
ENST00000402731.5:c.1009-1107A>C	ENSP00000384835.1:n.1009-1107A>C
ENST00000403642.5:c.743A>C	ENSP00000384919.1:p.His248Pro
ENST00000404276.5:c.1016A>C	ENSP00000385747.1:p.His339Pro
ENST00000405598.5:c.1016A>C	ENSP00000386087.1:p.His339Pro
ENST00000416671.5:c.*506A>C	ENSP00000402225.1:n.*506A>C
ENST00000417588.5:c.925A>C	ENSP00000412901.1:n.925A>C
ENST00000425190.6:c.353A>C	ENSP00000390244.1:p.His118Pro
ENST00000433028.6:c.*741A>C	ENSP00000403659.1:n.*741A>C
ENST00000433728.5:c.954A>C	ENSP00000404400.1:n.954A>C
ENST00000434810.5:c.247A>C
ENST00000447421.5:c.815A>C	ENSP00000397478.2:p.His272Pro
ENST00000448511.5:c.906A>C	ENSP00000404567.1:n.906A>C
ENST00000456369.5:c.263+2858A>C
ENST00000464581.5:c.356A>C	ENSP00000483777.1:p.His119Pro
ENST00000491919.5:n.573A>C
NM_001005735.1:c.1145A>C	NP_001005735.1:p.His382Pro
NM_001257387.1:c.353A>C	NP_001244316.1:p.His118Pro
NM_007194.3:c.1016A>C	NP_009125.1:p.His339Pro
NM_145862.2:c.1009-1107A>C	NP_665861.1:n.1009-1107A>C
XM_006724114.2:c.536A>C	XP_006724177.1:p.His179Pro
XM_006724116.2:c.473A>C	XP_006724179.2:p.His158Pro
XM_011529839.1:c.1175A>C	XP_011528141.1:p.His392Pro
XM_011529840.1:c.1168-1107A>C	XP_011528142.1:n.1168-1107A>C
XM_011529841.1:c.944A>C	XP_011528143.1:p.His315Pro
XM_011529842.1:c.845A>C	XP_011528144.1:p.His282Pro
XM_011529843.1:c.815A>C	XP_011528145.1:p.His272Pro
XM_011529845.1:c.353A>C	XP_011528147.1:p.His118Pro
XR_937805.1:n.1175A>C
XR_937806.1:n.1163-1107A>C
NM_001349956.1:c.815A>C	NP_001336885.1:p.His272Pro
NM_007194.4:c.1016A>C MANE Select	NP_009125.1:p.His339Pro
XM_006724114.3:c.569A>C	XP_006724177.2:p.His190Pro
XM_011529839.2:c.1175A>C	XP_011528141.1:p.His392Pro
XM_011529840.3:c.1168-1107A>C	XP_011528142.1:n.1168-1107A>C
XM_011529842.2:c.845A>C	XP_011528144.1:p.His282Pro
XM_011529845.2:c.353A>C	XP_011528147.1:p.His118Pro
XM_017028560.1:c.1139A>C	XP_016884049.1:p.His380Pro
XM_017028561.2:c.353A>C	XP_016884050.1:p.His118Pro
XM_024452148.1:c.1046A>C	XP_024307916.1:p.His349Pro
XM_024452149.1:c.1039-1107A>C	XP_024307917.1:n.1039-1107A>C
XR_937805.2:n.1186A>C
XR_937806.2:n.1179-1107A>C
NM_001005735.2:c.1145A>C	NP_001005735.1:p.His382Pro
NM_001257387.2:c.353A>C	NP_001244316.1:p.His118Pro
NM_001349956.2:c.815A>C	NP_001336885.1:p.His272Pro