Canonical Allele Identifier: CA411097117

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 822201
• ClinVar RCV Id: RCV001017360 ; RCV001860862
• dbSNP Id: rs1601723545
• MyVariant Identifiers: chr22:g.29091845T>G (hg19) ; chr22:g.28695857T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695857T>G , CM000684.2:g.28695857T>G	GRCh38
NC_000022.10:g.29091845T>G , CM000684.1:g.29091845T>G	GRCh37
NC_000022.9:g.27421845T>G	NCBI36
NG_008150.1:g.50978A>C
NG_008150.2:g.51010A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-615A>C	ENSP00000518557.1:n.1009-615A>C
ENST00000402731.6:c.911A>C	ENSP00000384835.2:p.His304Pro
ENST00000404276.6:c.1112A>C MANE Select	ENSP00000385747.1:p.His371Pro
ENST00000425190.7:c.449A>C	ENSP00000390244.2:p.His150Pro
ENST00000464581.6:c.452A>C	ENSP00000483777.2:p.His151Pro
ENST00000648295.1:n.664A>C
ENST00000649563.1:c.449A>C	ENSP00000496928.1:p.His150Pro
ENST00000650281.1:c.1112A>C	ENSP00000497000.1:p.His371Pro
ENST00000328354.10:c.1112A>C	ENSP00000329178.6:p.His371Pro
ENST00000348295.7:c.1025A>C	ENSP00000329012.5:p.His342Pro
ENST00000382580.6:c.1241A>C	ENSP00000372023.2:p.His414Pro
ENST00000402731.5:c.1025A>C	ENSP00000384835.1:p.His342Pro
ENST00000403642.5:c.839A>C	ENSP00000384919.1:p.His280Pro
ENST00000404276.5:c.1112A>C	ENSP00000385747.1:p.His371Pro
ENST00000405598.5:c.1112A>C	ENSP00000386087.1:p.His371Pro
ENST00000416671.5:c.*602A>C	ENSP00000402225.1:n.*602A>C
ENST00000417588.5:c.1021A>C	ENSP00000412901.1:n.1021A>C
ENST00000433728.5:c.1050A>C	ENSP00000404400.1:n.1050A>C
ENST00000434810.5:c.343A>C
ENST00000448511.5:c.1002A>C	ENSP00000404567.1:n.1002A>C
ENST00000456369.5:c.263+3981A>C
NM_001005735.1:c.1241A>C	NP_001005735.1:p.His414Pro
NM_001257387.1:c.449A>C	NP_001244316.1:p.His150Pro
NM_007194.3:c.1112A>C	NP_009125.1:p.His371Pro
NM_145862.2:c.1025A>C	NP_665861.1:p.His342Pro
XM_006724114.2:c.632A>C	XP_006724177.1:p.His211Pro
XM_006724116.2:c.569A>C	XP_006724179.2:p.His190Pro
XM_011529839.1:c.1271A>C	XP_011528141.1:p.His424Pro
XM_011529840.1:c.1184A>C	XP_011528142.1:p.His395Pro
XM_011529841.1:c.1040A>C	XP_011528143.1:p.His347Pro
XM_011529842.1:c.941A>C	XP_011528144.1:p.His314Pro
XM_011529843.1:c.911A>C	XP_011528145.1:p.His304Pro
XM_011529845.1:c.449A>C	XP_011528147.1:p.His150Pro
XR_937805.1:n.1271A>C
XR_937806.1:n.1179A>C
NM_001349956.1:c.911A>C	NP_001336885.1:p.His304Pro
NM_007194.4:c.1112A>C MANE Select	NP_009125.1:p.His371Pro
XM_006724114.3:c.665A>C	XP_006724177.2:p.His222Pro
XM_011529839.2:c.1271A>C	XP_011528141.1:p.His424Pro
XM_011529840.3:c.1184A>C	XP_011528142.1:p.His395Pro
XM_011529842.2:c.941A>C	XP_011528144.1:p.His314Pro
XM_011529845.2:c.449A>C	XP_011528147.1:p.His150Pro
XM_017028560.1:c.1235A>C	XP_016884049.1:p.His412Pro
XM_017028561.2:c.449A>C	XP_016884050.1:p.His150Pro
XM_024452148.1:c.1142A>C	XP_024307916.1:p.His381Pro
XM_024452149.1:c.1055A>C	XP_024307917.1:p.His352Pro
XR_937805.2:n.1282A>C
XR_937806.2:n.1195A>C
NM_001005735.2:c.1241A>C	NP_001005735.1:p.His414Pro
NM_001257387.2:c.449A>C	NP_001244316.1:p.His150Pro
NM_001349956.2:c.911A>C	NP_001336885.1:p.His304Pro