Canonical Allele Identifier: CA513944933

Gene: CHEK2

Linked Data

• MyVariant Identifiers: chr22:g.29091820A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695832A>C , CM000684.2:g.28695832A>C	GRCh38
NC_000022.10:g.29091820A>C , CM000684.1:g.29091820A>C	GRCh37
NC_000022.9:g.27421820A>C	NCBI36
NG_008150.1:g.51003T>G
NG_008150.2:g.51035T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-590T>G	ENSP00000518557.1:n.1009-590T>G
ENST00000402731.6:c.936T>G	ENSP00000384835.2:p.Ser312=
ENST00000404276.6:c.1137T>G MANE Select	ENSP00000385747.1:p.Ser379=
ENST00000425190.7:c.474T>G	ENSP00000390244.2:p.Ser158=
ENST00000464581.6:c.477T>G	ENSP00000483777.2:p.Ser159=
ENST00000648295.1:n.689T>G
ENST00000649563.1:c.474T>G	ENSP00000496928.1:p.Ser158=
ENST00000650281.1:c.1137T>G	ENSP00000497000.1:p.Ser379=
ENST00000328354.10:c.1137T>G	ENSP00000329178.6:p.Ser379=
ENST00000348295.7:c.1050T>G	ENSP00000329012.5:p.Ser350=
ENST00000382580.6:c.1266T>G	ENSP00000372023.2:p.Ser422=
ENST00000402731.5:c.1050T>G	ENSP00000384835.1:p.Ser350=
ENST00000403642.5:c.864T>G	ENSP00000384919.1:p.Ser288=
ENST00000404276.5:c.1137T>G	ENSP00000385747.1:p.Ser379=
ENST00000405598.5:c.1137T>G	ENSP00000386087.1:p.Ser379=
ENST00000416671.5:c.*627T>G	ENSP00000402225.1:n.*627T>G
ENST00000417588.5:c.1046T>G	ENSP00000412901.1:n.1046T>G
ENST00000433728.5:c.1075T>G	ENSP00000404400.1:n.1075T>G
ENST00000434810.5:c.368T>G
ENST00000448511.5:c.1027T>G	ENSP00000404567.1:n.1027T>G
ENST00000456369.5:c.263+4006T>G
NM_001005735.1:c.1266T>G	NP_001005735.1:p.Ser422=
NM_001257387.1:c.474T>G	NP_001244316.1:p.Ser158=
NM_007194.3:c.1137T>G	NP_009125.1:p.Ser379=
NM_145862.2:c.1050T>G	NP_665861.1:p.Ser350=
XM_006724114.2:c.657T>G	XP_006724177.1:p.Ser219=
XM_006724116.2:c.594T>G	XP_006724179.2:p.Ser198=
XM_011529839.1:c.1296T>G	XP_011528141.1:p.Ser432=
XM_011529840.1:c.1209T>G	XP_011528142.1:p.Ser403=
XM_011529841.1:c.1065T>G	XP_011528143.1:p.Ser355=
XM_011529842.1:c.966T>G	XP_011528144.1:p.Ser322=
XM_011529843.1:c.936T>G	XP_011528145.1:p.Ser312=
XM_011529845.1:c.474T>G	XP_011528147.1:p.Ser158=
XR_937805.1:n.1296T>G
XR_937806.1:n.1204T>G
NM_001349956.1:c.936T>G	NP_001336885.1:p.Ser312=
NM_007194.4:c.1137T>G MANE Select	NP_009125.1:p.Ser379=
XM_006724114.3:c.690T>G	XP_006724177.2:p.Ser230=
XM_011529839.2:c.1296T>G	XP_011528141.1:p.Ser432=
XM_011529840.3:c.1209T>G	XP_011528142.1:p.Ser403=
XM_011529842.2:c.966T>G	XP_011528144.1:p.Ser322=
XM_011529845.2:c.474T>G	XP_011528147.1:p.Ser158=
XM_017028560.1:c.1260T>G	XP_016884049.1:p.Ser420=
XM_017028561.2:c.474T>G	XP_016884050.1:p.Ser158=
XM_024452148.1:c.1167T>G	XP_024307916.1:p.Ser389=
XM_024452149.1:c.1080T>G	XP_024307917.1:p.Ser360=
XR_937805.2:n.1307T>G
XR_937806.2:n.1220T>G
NM_001005735.2:c.1266T>G	NP_001005735.1:p.Ser422=
NM_001257387.2:c.474T>G	NP_001244316.1:p.Ser158=
NM_001349956.2:c.936T>G	NP_001336885.1:p.Ser312=