Canonical Allele Identifier: CA411094264

Gene: CHEK2

Linked Data

• MyVariant Identifiers: chr22:g.29090057A>G (hg19) ; chr22:g.28694069A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694069A>G , CM000684.2:g.28694069A>G	GRCh38
NC_000022.10:g.29090057A>G , CM000684.1:g.29090057A>G	GRCh37
NC_000022.9:g.27420057A>G	NCBI36
NG_008150.1:g.52766T>C
NG_008150.2:g.52798T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.*159T>C	ENSP00000518557.1:n.*159T>C
ENST00000402731.6:c.1223T>C	ENSP00000384835.2:p.Phe408Ser
ENST00000404276.6:c.1424T>C MANE Select	ENSP00000385747.1:p.Phe475Ser
ENST00000425190.7:c.761T>C	ENSP00000390244.2:p.Phe254Ser
ENST00000464581.6:c.764T>C	ENSP00000483777.2:p.Phe255Ser
ENST00000648295.1:n.976T>C
ENST00000649563.1:c.761T>C	ENSP00000496928.1:p.Phe254Ser
ENST00000650281.1:c.1424T>C	ENSP00000497000.1:p.Phe475Ser
ENST00000328354.10:c.1424T>C	ENSP00000329178.6:p.Phe475Ser
ENST00000348295.7:c.1337T>C	ENSP00000329012.5:p.Phe446Ser
ENST00000382580.6:c.1553T>C	ENSP00000372023.2:p.Phe518Ser
ENST00000402731.5:c.1337T>C	ENSP00000384835.1:p.Phe446Ser
ENST00000403642.5:c.1151T>C	ENSP00000384919.1:p.Phe384Ser
ENST00000404276.5:c.1424T>C	ENSP00000385747.1:p.Phe475Ser
ENST00000405598.5:c.1424T>C	ENSP00000386087.1:p.Phe475Ser
ENST00000416671.5:c.*914T>C	ENSP00000402225.1:n.*914T>C
ENST00000417588.5:c.1333T>C	ENSP00000412901.1:n.1333T>C
ENST00000433728.5:c.1362T>C	ENSP00000404400.1:n.1362T>C
ENST00000434810.5:c.622T>C
ENST00000448511.5:c.1314T>C	ENSP00000404567.1:n.1314T>C
ENST00000456369.5:c.264-4854T>C
NM_001005735.1:c.1553T>C	NP_001005735.1:p.Phe518Ser
NM_001257387.1:c.761T>C	NP_001244316.1:p.Phe254Ser
NM_007194.3:c.1424T>C	NP_009125.1:p.Phe475Ser
NM_145862.2:c.1337T>C	NP_665861.1:p.Phe446Ser
XM_006724114.2:c.944T>C	XP_006724177.1:p.Phe315Ser
XM_006724116.2:c.881T>C	XP_006724179.2:p.Phe294Ser
XM_011529839.1:c.1583T>C	XP_011528141.1:p.Phe528Ser
XM_011529840.1:c.1496T>C	XP_011528142.1:p.Phe499Ser
XM_011529841.1:c.1352T>C	XP_011528143.1:p.Phe451Ser
XM_011529842.1:c.1253T>C	XP_011528144.1:p.Phe418Ser
XM_011529843.1:c.1223T>C	XP_011528145.1:p.Phe408Ser
XM_011529845.1:c.761T>C	XP_011528147.1:p.Phe254Ser
XR_937805.1:n.1583T>C
NM_001349956.1:c.1223T>C	NP_001336885.1:p.Phe408Ser
NM_007194.4:c.1424T>C MANE Select	NP_009125.1:p.Phe475Ser
XM_006724114.3:c.977T>C	XP_006724177.2:p.Phe326Ser
XM_011529839.2:c.1583T>C	XP_011528141.1:p.Phe528Ser
XM_011529840.3:c.1496T>C	XP_011528142.1:p.Phe499Ser
XM_011529842.2:c.1253T>C	XP_011528144.1:p.Phe418Ser
XM_011529845.2:c.761T>C	XP_011528147.1:p.Phe254Ser
XM_017028560.1:c.1547T>C	XP_016884049.1:p.Phe516Ser
XM_017028561.2:c.761T>C	XP_016884050.1:p.Phe254Ser
XM_024452148.1:c.1454T>C	XP_024307916.1:p.Phe485Ser
XM_024452149.1:c.1367T>C	XP_024307917.1:p.Phe456Ser
XR_937805.2:n.1594T>C
NM_001005735.2:c.1553T>C	NP_001005735.1:p.Phe518Ser
NM_001257387.2:c.761T>C	NP_001244316.1:p.Phe254Ser
NM_001349956.2:c.1223T>C	NP_001336885.1:p.Phe408Ser