Canonical Allele Identifier: CA411099307

Gene: CHEK2

Linked Data

• MyVariant Identifiers: chr22:g.29095830A>G (hg19) ; chr22:g.28699842A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699842A>G , CM000684.2:g.28699842A>G	GRCh38
NC_000022.10:g.29095830A>G , CM000684.1:g.29095830A>G	GRCh37
NC_000022.9:g.27425830A>G	NCBI36
NG_008150.1:g.46993T>C
NG_008150.2:g.47025T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000439346.6:c.913T>C	ENSP00000396903.2:n.913T>C
ENST00000711048.1:c.1004T>C	ENSP00000518557.1:p.Val335Ala
ENST00000402731.6:c.803T>C	ENSP00000384835.2:p.Val268Ala
ENST00000404276.6:c.1004T>C MANE Select	ENSP00000385747.1:p.Val335Ala
ENST00000425190.7:c.341T>C	ENSP00000390244.2:p.Val114Ala
ENST00000464581.6:c.344T>C	ENSP00000483777.2:p.Val115Ala
ENST00000648295.1:n.556T>C
ENST00000649563.1:c.341T>C	ENSP00000496928.1:p.Val114Ala
ENST00000650281.1:c.1004T>C	ENSP00000497000.1:p.Val335Ala
ENST00000328354.10:c.1004T>C	ENSP00000329178.6:p.Val335Ala
ENST00000348295.7:c.1004T>C	ENSP00000329012.5:p.Val335Ala
ENST00000382580.6:c.1133T>C	ENSP00000372023.2:p.Val378Ala
ENST00000402731.5:c.1004T>C	ENSP00000384835.1:p.Val335Ala
ENST00000403642.5:c.731T>C	ENSP00000384919.1:p.Val244Ala
ENST00000404276.5:c.1004T>C	ENSP00000385747.1:p.Val335Ala
ENST00000405598.5:c.1004T>C	ENSP00000386087.1:p.Val335Ala
ENST00000416671.5:c.*494T>C	ENSP00000402225.1:n.*494T>C
ENST00000417588.5:c.913T>C	ENSP00000412901.1:n.913T>C
ENST00000425190.6:c.341T>C	ENSP00000390244.1:p.Val114Ala
ENST00000433028.6:c.*729T>C	ENSP00000403659.1:n.*729T>C
ENST00000433728.5:c.942T>C	ENSP00000404400.1:n.942T>C
ENST00000434810.5:c.235T>C
ENST00000439346.5:c.475T>C	ENSP00000396903.1:n.475T>C
ENST00000447421.5:c.803T>C	ENSP00000397478.2:p.Val268Ala
ENST00000448511.5:c.894T>C	ENSP00000404567.1:n.894T>C
ENST00000456369.5:c.259T>C
ENST00000464581.5:c.344T>C	ENSP00000483777.1:p.Val115Ala
ENST00000491919.5:n.561T>C
NM_001005735.1:c.1133T>C	NP_001005735.1:p.Val378Ala
NM_001257387.1:c.341T>C	NP_001244316.1:p.Val114Ala
NM_007194.3:c.1004T>C	NP_009125.1:p.Val335Ala
NM_145862.2:c.1004T>C	NP_665861.1:p.Val335Ala
XM_006724114.2:c.524T>C	XP_006724177.1:p.Val175Ala
XM_006724116.2:c.461T>C	XP_006724179.2:p.Val154Ala
XM_011529839.1:c.1163T>C	XP_011528141.1:p.Val388Ala
XM_011529840.1:c.1163T>C	XP_011528142.1:p.Val388Ala
XM_011529841.1:c.932T>C	XP_011528143.1:p.Val311Ala
XM_011529842.1:c.833T>C	XP_011528144.1:p.Val278Ala
XM_011529843.1:c.803T>C	XP_011528145.1:p.Val268Ala
XM_011529844.1:c.1163T>C	XP_011528146.1:p.Val388Ala
XM_011529845.1:c.341T>C	XP_011528147.1:p.Val114Ala
XR_937805.1:n.1163T>C
XR_937806.1:n.1158T>C
XR_937807.1:n.1158T>C
NM_001349956.1:c.803T>C	NP_001336885.1:p.Val268Ala
NM_007194.4:c.1004T>C MANE Select	NP_009125.1:p.Val335Ala
XM_006724114.3:c.557T>C	XP_006724177.2:p.Val186Ala
XM_011529839.2:c.1163T>C	XP_011528141.1:p.Val388Ala
XM_011529840.3:c.1163T>C	XP_011528142.1:p.Val388Ala
XM_011529842.2:c.833T>C	XP_011528144.1:p.Val278Ala
XM_011529844.2:c.1163T>C	XP_011528146.1:p.Val388Ala
XM_011529845.2:c.341T>C	XP_011528147.1:p.Val114Ala
XM_017028560.1:c.1127T>C	XP_016884049.1:p.Val376Ala
XM_017028561.2:c.341T>C	XP_016884050.1:p.Val114Ala
XM_024452148.1:c.1034T>C	XP_024307916.1:p.Val345Ala
XM_024452149.1:c.1034T>C	XP_024307917.1:p.Val345Ala
XR_937805.2:n.1174T>C
XR_937806.2:n.1174T>C
XR_937807.2:n.1174T>C
NM_001005735.2:c.1133T>C	NP_001005735.1:p.Val378Ala
NM_001257387.2:c.341T>C	NP_001244316.1:p.Val114Ala
NM_001349956.2:c.803T>C	NP_001336885.1:p.Val268Ala