Canonical Allele Identifier: CA513944768

Gene: CHEK2

Linked Data

• dbSNP Id: rs17881378
• MyVariant Identifiers: chr22:g.29090074C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694086C>G , CM000684.2:g.28694086C>G	GRCh38
NC_000022.10:g.29090074C>G , CM000684.1:g.29090074C>G	GRCh37
NC_000022.9:g.27420074C>G	NCBI36
NG_008150.1:g.52749G>C
NG_008150.2:g.52781G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.*142G>C	ENSP00000518557.1:n.*142G>C
ENST00000402731.6:c.1206G>C	ENSP00000384835.2:p.Val402=
ENST00000404276.6:c.1407G>C MANE Select	ENSP00000385747.1:p.Val469=
ENST00000425190.7:c.744G>C	ENSP00000390244.2:p.Val248=
ENST00000464581.6:c.747G>C	ENSP00000483777.2:p.Val249=
ENST00000648295.1:n.959G>C
ENST00000649563.1:c.744G>C	ENSP00000496928.1:p.Val248=
ENST00000650281.1:c.1407G>C	ENSP00000497000.1:p.Val469=
ENST00000328354.10:c.1407G>C	ENSP00000329178.6:p.Val469=
ENST00000348295.7:c.1320G>C	ENSP00000329012.5:p.Val440=
ENST00000382580.6:c.1536G>C	ENSP00000372023.2:p.Val512=
ENST00000402731.5:c.1320G>C	ENSP00000384835.1:p.Val440=
ENST00000403642.5:c.1134G>C	ENSP00000384919.1:p.Val378=
ENST00000404276.5:c.1407G>C	ENSP00000385747.1:p.Val469=
ENST00000405598.5:c.1407G>C	ENSP00000386087.1:p.Val469=
ENST00000416671.5:c.*897G>C	ENSP00000402225.1:n.*897G>C
ENST00000417588.5:c.1316G>C	ENSP00000412901.1:n.1316G>C
ENST00000433728.5:c.1345G>C	ENSP00000404400.1:n.1345G>C
ENST00000434810.5:c.605G>C
ENST00000448511.5:c.1297G>C	ENSP00000404567.1:n.1297G>C
ENST00000456369.5:c.264-4871G>C
NM_001005735.1:c.1536G>C	NP_001005735.1:p.Val512=
NM_001257387.1:c.744G>C	NP_001244316.1:p.Val248=
NM_007194.3:c.1407G>C	NP_009125.1:p.Val469=
NM_145862.2:c.1320G>C	NP_665861.1:p.Val440=
XM_006724114.2:c.927G>C	XP_006724177.1:p.Val309=
XM_006724116.2:c.864G>C	XP_006724179.2:p.Val288=
XM_011529839.1:c.1566G>C	XP_011528141.1:p.Val522=
XM_011529840.1:c.1479G>C	XP_011528142.1:p.Val493=
XM_011529841.1:c.1335G>C	XP_011528143.1:p.Val445=
XM_011529842.1:c.1236G>C	XP_011528144.1:p.Val412=
XM_011529843.1:c.1206G>C	XP_011528145.1:p.Val402=
XM_011529845.1:c.744G>C	XP_011528147.1:p.Val248=
XR_937805.1:n.1566G>C
NM_001349956.1:c.1206G>C	NP_001336885.1:p.Val402=
NM_007194.4:c.1407G>C MANE Select	NP_009125.1:p.Val469=
XM_006724114.3:c.960G>C	XP_006724177.2:p.Val320=
XM_011529839.2:c.1566G>C	XP_011528141.1:p.Val522=
XM_011529840.3:c.1479G>C	XP_011528142.1:p.Val493=
XM_011529842.2:c.1236G>C	XP_011528144.1:p.Val412=
XM_011529845.2:c.744G>C	XP_011528147.1:p.Val248=
XM_017028560.1:c.1530G>C	XP_016884049.1:p.Val510=
XM_017028561.2:c.744G>C	XP_016884050.1:p.Val248=
XM_024452148.1:c.1437G>C	XP_024307916.1:p.Val479=
XM_024452149.1:c.1350G>C	XP_024307917.1:p.Val450=
XR_937805.2:n.1577G>C
NM_001005735.2:c.1536G>C	NP_001005735.1:p.Val512=
NM_001257387.2:c.744G>C	NP_001244316.1:p.Val248=
NM_001349956.2:c.1206G>C	NP_001336885.1:p.Val402=