Canonical Allele Identifier: CA513944947

Gene: CHEK2

Linked Data

• MyVariant Identifiers: chr22:g.29091841G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695853G>C , CM000684.2:g.28695853G>C	GRCh38
NC_000022.10:g.29091841G>C , CM000684.1:g.29091841G>C	GRCh37
NC_000022.9:g.27421841G>C	NCBI36
NG_008150.1:g.50982C>G
NG_008150.2:g.51014C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-611C>G	ENSP00000518557.1:n.1009-611C>G
ENST00000402731.6:c.915C>G	ENSP00000384835.2:p.Ser305=
ENST00000404276.6:c.1116C>G MANE Select	ENSP00000385747.1:p.Ser372=
ENST00000425190.7:c.453C>G	ENSP00000390244.2:p.Ser151=
ENST00000464581.6:c.456C>G	ENSP00000483777.2:p.Ser152=
ENST00000648295.1:n.668C>G
ENST00000649563.1:c.453C>G	ENSP00000496928.1:p.Ser151=
ENST00000650281.1:c.1116C>G	ENSP00000497000.1:p.Ser372=
ENST00000328354.10:c.1116C>G	ENSP00000329178.6:p.Ser372=
ENST00000348295.7:c.1029C>G	ENSP00000329012.5:p.Ser343=
ENST00000382580.6:c.1245C>G	ENSP00000372023.2:p.Ser415=
ENST00000402731.5:c.1029C>G	ENSP00000384835.1:p.Ser343=
ENST00000403642.5:c.843C>G	ENSP00000384919.1:p.Ser281=
ENST00000404276.5:c.1116C>G	ENSP00000385747.1:p.Ser372=
ENST00000405598.5:c.1116C>G	ENSP00000386087.1:p.Ser372=
ENST00000416671.5:c.*606C>G	ENSP00000402225.1:n.*606C>G
ENST00000417588.5:c.1025C>G	ENSP00000412901.1:n.1025C>G
ENST00000433728.5:c.1054C>G	ENSP00000404400.1:n.1054C>G
ENST00000434810.5:c.347C>G
ENST00000448511.5:c.1006C>G	ENSP00000404567.1:n.1006C>G
ENST00000456369.5:c.263+3985C>G
NM_001005735.1:c.1245C>G	NP_001005735.1:p.Ser415=
NM_001257387.1:c.453C>G	NP_001244316.1:p.Ser151=
NM_007194.3:c.1116C>G	NP_009125.1:p.Ser372=
NM_145862.2:c.1029C>G	NP_665861.1:p.Ser343=
XM_006724114.2:c.636C>G	XP_006724177.1:p.Ser212=
XM_006724116.2:c.573C>G	XP_006724179.2:p.Ser191=
XM_011529839.1:c.1275C>G	XP_011528141.1:p.Ser425=
XM_011529840.1:c.1188C>G	XP_011528142.1:p.Ser396=
XM_011529841.1:c.1044C>G	XP_011528143.1:p.Ser348=
XM_011529842.1:c.945C>G	XP_011528144.1:p.Ser315=
XM_011529843.1:c.915C>G	XP_011528145.1:p.Ser305=
XM_011529845.1:c.453C>G	XP_011528147.1:p.Ser151=
XR_937805.1:n.1275C>G
XR_937806.1:n.1183C>G
NM_001349956.1:c.915C>G	NP_001336885.1:p.Ser305=
NM_007194.4:c.1116C>G MANE Select	NP_009125.1:p.Ser372=
XM_006724114.3:c.669C>G	XP_006724177.2:p.Ser223=
XM_011529839.2:c.1275C>G	XP_011528141.1:p.Ser425=
XM_011529840.3:c.1188C>G	XP_011528142.1:p.Ser396=
XM_011529842.2:c.945C>G	XP_011528144.1:p.Ser315=
XM_011529845.2:c.453C>G	XP_011528147.1:p.Ser151=
XM_017028560.1:c.1239C>G	XP_016884049.1:p.Ser413=
XM_017028561.2:c.453C>G	XP_016884050.1:p.Ser151=
XM_024452148.1:c.1146C>G	XP_024307916.1:p.Ser382=
XM_024452149.1:c.1059C>G	XP_024307917.1:p.Ser353=
XR_937805.2:n.1286C>G
XR_937806.2:n.1199C>G
NM_001005735.2:c.1245C>G	NP_001005735.1:p.Ser415=
NM_001257387.2:c.453C>G	NP_001244316.1:p.Ser151=
NM_001349956.2:c.915C>G	NP_001336885.1:p.Ser305=