Canonical Allele Identifier: CA411097728

Gene: CHEK2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696957C>G , CM000684.2:g.28696957C>G	GRCh38
NC_000022.10:g.29092945C>G , CM000684.1:g.29092945C>G	GRCh37
NC_000022.9:g.27422945C>G	NCBI36
NG_008150.1:g.49878G>C
NG_008150.2:g.49910G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1715G>C	ENSP00000518557.1:n.1009-1715G>C
ENST00000402731.6:c.838G>C	ENSP00000384835.2:p.Asp280His
ENST00000404276.6:c.1039G>C MANE Select	ENSP00000385747.1:p.Asp347His
ENST00000425190.7:c.376G>C	ENSP00000390244.2:p.Asp126His
ENST00000464581.6:c.379G>C	ENSP00000483777.2:p.Asp127His
ENST00000648295.1:n.591G>C
ENST00000649563.1:c.376G>C	ENSP00000496928.1:p.Asp126His
ENST00000650281.1:c.1039G>C	ENSP00000497000.1:p.Asp347His
ENST00000328354.10:c.1039G>C	ENSP00000329178.6:p.Asp347His
ENST00000348295.7:c.1009-1084G>C	ENSP00000329012.5:n.1009-1084G>C
ENST00000382580.6:c.1168G>C	ENSP00000372023.2:p.Asp390His
ENST00000402731.5:c.1009-1084G>C	ENSP00000384835.1:n.1009-1084G>C
ENST00000403642.5:c.766G>C	ENSP00000384919.1:p.Asp256His
ENST00000404276.5:c.1039G>C	ENSP00000385747.1:p.Asp347His
ENST00000405598.5:c.1039G>C	ENSP00000386087.1:p.Asp347His
ENST00000416671.5:c.*529G>C	ENSP00000402225.1:n.*529G>C
ENST00000417588.5:c.948G>C	ENSP00000412901.1:n.948G>C
ENST00000433028.6:c.*764G>C	ENSP00000403659.1:n.*764G>C
ENST00000433728.5:c.977G>C	ENSP00000404400.1:n.977G>C
ENST00000434810.5:c.270G>C
ENST00000447421.5:c.838G>C	ENSP00000397478.2:p.Asp280His
ENST00000448511.5:c.929G>C	ENSP00000404567.1:n.929G>C
ENST00000456369.5:c.263+2881G>C
ENST00000464581.5:c.379G>C	ENSP00000483777.1:p.Asp127His
ENST00000491919.5:n.596G>C
NM_001005735.1:c.1168G>C	NP_001005735.1:p.Asp390His
NM_001257387.1:c.376G>C	NP_001244316.1:p.Asp126His
NM_007194.3:c.1039G>C	NP_009125.1:p.Asp347His
NM_145862.2:c.1009-1084G>C	NP_665861.1:n.1009-1084G>C
XM_006724114.2:c.559G>C	XP_006724177.1:p.Asp187His
XM_006724116.2:c.496G>C	XP_006724179.2:p.Asp166His
XM_011529839.1:c.1198G>C	XP_011528141.1:p.Asp400His
XM_011529840.1:c.1168-1084G>C	XP_011528142.1:n.1168-1084G>C
XM_011529841.1:c.967G>C	XP_011528143.1:p.Asp323His
XM_011529842.1:c.868G>C	XP_011528144.1:p.Asp290His
XM_011529843.1:c.838G>C	XP_011528145.1:p.Asp280His
XM_011529845.1:c.376G>C	XP_011528147.1:p.Asp126His
XR_937805.1:n.1198G>C
XR_937806.1:n.1163-1084G>C
NM_001349956.1:c.838G>C	NP_001336885.1:p.Asp280His
NM_007194.4:c.1039G>C MANE Select	NP_009125.1:p.Asp347His
XM_006724114.3:c.592G>C	XP_006724177.2:p.Asp198His
XM_011529839.2:c.1198G>C	XP_011528141.1:p.Asp400His
XM_011529840.3:c.1168-1084G>C	XP_011528142.1:n.1168-1084G>C
XM_011529842.2:c.868G>C	XP_011528144.1:p.Asp290His
XM_011529845.2:c.376G>C	XP_011528147.1:p.Asp126His
XM_017028560.1:c.1162G>C	XP_016884049.1:p.Asp388His
XM_017028561.2:c.376G>C	XP_016884050.1:p.Asp126His
XM_024452148.1:c.1069G>C	XP_024307916.1:p.Asp357His
XM_024452149.1:c.1039-1084G>C	XP_024307917.1:n.1039-1084G>C
XR_937805.2:n.1209G>C
XR_937806.2:n.1179-1084G>C
NM_001005735.2:c.1168G>C	NP_001005735.1:p.Asp390His
NM_001257387.2:c.376G>C	NP_001244316.1:p.Asp126His
NM_001349956.2:c.838G>C	NP_001336885.1:p.Asp280His