Canonical Allele Identifier: CA411097857

Gene: CHEK2

Linked Data

• MyVariant Identifiers: chr22:g.29092974T>G (hg19) ; chr22:g.28696986T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696986T>G , CM000684.2:g.28696986T>G	GRCh38
NC_000022.10:g.29092974T>G , CM000684.1:g.29092974T>G	GRCh37
NC_000022.9:g.27422974T>G	NCBI36
NG_008150.1:g.49849A>C
NG_008150.2:g.49881A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1744A>C	ENSP00000518557.1:n.1009-1744A>C
ENST00000402731.6:c.809A>C	ENSP00000384835.2:p.Tyr270Ser
ENST00000404276.6:c.1010A>C MANE Select	ENSP00000385747.1:p.Tyr337Ser
ENST00000425190.7:c.347A>C	ENSP00000390244.2:p.Tyr116Ser
ENST00000464581.6:c.350A>C	ENSP00000483777.2:p.Tyr117Ser
ENST00000648295.1:n.562A>C
ENST00000649563.1:c.347A>C	ENSP00000496928.1:p.Tyr116Ser
ENST00000650281.1:c.1010A>C	ENSP00000497000.1:p.Tyr337Ser
ENST00000328354.10:c.1010A>C	ENSP00000329178.6:p.Tyr337Ser
ENST00000348295.7:c.1009-1113A>C	ENSP00000329012.5:n.1009-1113A>C
ENST00000382580.6:c.1139A>C	ENSP00000372023.2:p.Tyr380Ser
ENST00000402731.5:c.1009-1113A>C	ENSP00000384835.1:n.1009-1113A>C
ENST00000403642.5:c.737A>C	ENSP00000384919.1:p.Tyr246Ser
ENST00000404276.5:c.1010A>C	ENSP00000385747.1:p.Tyr337Ser
ENST00000405598.5:c.1010A>C	ENSP00000386087.1:p.Tyr337Ser
ENST00000416671.5:c.*500A>C	ENSP00000402225.1:n.*500A>C
ENST00000417588.5:c.919A>C	ENSP00000412901.1:n.919A>C
ENST00000425190.6:c.347A>C	ENSP00000390244.1:p.Tyr116Ser
ENST00000433028.6:c.*735A>C	ENSP00000403659.1:n.*735A>C
ENST00000433728.5:c.948A>C	ENSP00000404400.1:n.948A>C
ENST00000434810.5:c.241A>C
ENST00000447421.5:c.809A>C	ENSP00000397478.2:p.Tyr270Ser
ENST00000448511.5:c.900A>C	ENSP00000404567.1:n.900A>C
ENST00000456369.5:c.263+2852A>C
ENST00000464581.5:c.350A>C	ENSP00000483777.1:p.Tyr117Ser
ENST00000491919.5:n.567A>C
NM_001005735.1:c.1139A>C	NP_001005735.1:p.Tyr380Ser
NM_001257387.1:c.347A>C	NP_001244316.1:p.Tyr116Ser
NM_007194.3:c.1010A>C	NP_009125.1:p.Tyr337Ser
NM_145862.2:c.1009-1113A>C	NP_665861.1:n.1009-1113A>C
XM_006724114.2:c.530A>C	XP_006724177.1:p.Tyr177Ser
XM_006724116.2:c.467A>C	XP_006724179.2:p.Tyr156Ser
XM_011529839.1:c.1169A>C	XP_011528141.1:p.Tyr390Ser
XM_011529840.1:c.1168-1113A>C	XP_011528142.1:n.1168-1113A>C
XM_011529841.1:c.938A>C	XP_011528143.1:p.Tyr313Ser
XM_011529842.1:c.839A>C	XP_011528144.1:p.Tyr280Ser
XM_011529843.1:c.809A>C	XP_011528145.1:p.Tyr270Ser
XM_011529845.1:c.347A>C	XP_011528147.1:p.Tyr116Ser
XR_937805.1:n.1169A>C
XR_937806.1:n.1163-1113A>C
NM_001349956.1:c.809A>C	NP_001336885.1:p.Tyr270Ser
NM_007194.4:c.1010A>C MANE Select	NP_009125.1:p.Tyr337Ser
XM_006724114.3:c.563A>C	XP_006724177.2:p.Tyr188Ser
XM_011529839.2:c.1169A>C	XP_011528141.1:p.Tyr390Ser
XM_011529840.3:c.1168-1113A>C	XP_011528142.1:n.1168-1113A>C
XM_011529842.2:c.839A>C	XP_011528144.1:p.Tyr280Ser
XM_011529845.2:c.347A>C	XP_011528147.1:p.Tyr116Ser
XM_017028560.1:c.1133A>C	XP_016884049.1:p.Tyr378Ser
XM_017028561.2:c.347A>C	XP_016884050.1:p.Tyr116Ser
XM_024452148.1:c.1040A>C	XP_024307916.1:p.Tyr347Ser
XM_024452149.1:c.1039-1113A>C	XP_024307917.1:n.1039-1113A>C
XR_937805.2:n.1180A>C
XR_937806.2:n.1179-1113A>C
NM_001005735.2:c.1139A>C	NP_001005735.1:p.Tyr380Ser
NM_001257387.2:c.347A>C	NP_001244316.1:p.Tyr116Ser
NM_001349956.2:c.809A>C	NP_001336885.1:p.Tyr270Ser