Canonical Allele Identifier: CA085207
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2099802
ClinVar RCV Id: RCV003021898
dbSNP Id: rs375950722
COSMIC: COSM125981

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237784359C>T , CM000663.2:g.237784359C>T GRCh38
NC_000001.10:g.237947659C>T , CM000663.1:g.237947659C>T GRCh37
NC_000001.9:g.236014282C>T NCBI36
NG_008799.2:g.746958C>T
NG_008799.3:g.747176C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000609119.2:c.*3739C>T ENSP00000499659.2:n.*3739C>T
ENST00000659194.3:c.12635C>T ENSP00000499653.3:p.Ala4212Val
ENST00000660292.2:c.12668C>T ENSP00000499787.2:p.Ala4223Val
ENST00000659194.2:c.4824C>T
ENST00000366574.7:c.12647C>T MANE Select ENSP00000355533.2:p.Ala4216Val
ENST00000659194.1:c.4824C>T
ENST00000660292.1:c.2700C>T
ENST00000360064.7:c.12599C>T ENSP00000353174.7:p.Ala4200Val
ENST00000366574.6:c.12647C>T ENSP00000355533.2:p.Ala4216Val
ENST00000609119.1:n.3842C>T
NM_001035.2:c.12647C>T NP_001026.2:p.Ala4216Val
XM_006711802.2:c.12701C>T XP_006711865.1:p.Ala4234Val
XM_006711803.2:c.12698C>T XP_006711866.1:p.Ala4233Val
XM_006711804.2:c.12677C>T XP_006711867.1:p.Ala4226Val
XM_006711805.2:c.12671C>T XP_006711868.1:p.Ala4224Val
XM_006711806.2:c.12665C>T XP_006711869.1:p.Ala4222Val
XM_006711807.2:c.12641C>T XP_006711870.1:p.Ala4214Val
XM_006711808.2:c.12464C>T XP_006711871.1:p.Ala4155Val
XM_006711810.2:c.12608C>T XP_006711873.1:p.Ala4203Val
XM_006711802.3:c.12701C>T XP_006711865.1:p.Ala4234Val
XM_006711803.3:c.12698C>T XP_006711866.1:p.Ala4233Val
XM_006711804.3:c.12677C>T XP_006711867.1:p.Ala4226Val
XM_006711805.3:c.12671C>T XP_006711868.1:p.Ala4224Val
XM_006711806.3:c.12665C>T XP_006711869.1:p.Ala4222Val
XM_006711807.3:c.12641C>T XP_006711870.1:p.Ala4214Val
XM_006711808.3:c.12464C>T XP_006711871.1:p.Ala4155Val
XM_006711810.3:c.12608C>T XP_006711873.1:p.Ala4203Val
XM_017002028.1:c.12680C>T XP_016857517.1:p.Ala4227Val
NM_001035.3:c.12647C>T MANE Select NP_001026.2:p.Ala4216Val