Canonical Allele Identifier: CA007163
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 201396
ClinVar RCV Id: RCV002516914
dbSNP Id: rs794728825

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237778702A>C , CM000663.2:g.237778702A>C GRCh38
NC_000001.10:g.237942002A>C , CM000663.1:g.237942002A>C GRCh37
NC_000001.9:g.236008625A>C NCBI36
NG_008799.2:g.741301A>C
NG_008799.3:g.741519A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000609119.2:c.*2904A>C ENSP00000499659.2:n.*2904A>C
ENST00000659194.3:c.11800A>C ENSP00000499653.3:p.Ser3934Arg
ENST00000660292.2:c.11833A>C ENSP00000499787.2:p.Ser3945Arg
ENST00000659194.2:c.3989A>C
ENST00000366574.7:c.11812A>C MANE Select ENSP00000355533.2:p.Ser3938Arg
ENST00000659194.1:c.3989A>C
ENST00000660292.1:c.1865A>C
ENST00000360064.7:c.11764A>C ENSP00000353174.7:p.Ser3922Arg
ENST00000366574.6:c.11812A>C ENSP00000355533.2:p.Ser3938Arg
ENST00000609119.1:n.3007A>C
NM_001035.2:c.11812A>C NP_001026.2:p.Ser3938Arg
XM_006711802.2:c.11866A>C XP_006711865.1:p.Ser3956Arg
XM_006711803.2:c.11863A>C XP_006711866.1:p.Ser3955Arg
XM_006711804.2:c.11842A>C XP_006711867.1:p.Ser3948Arg
XM_006711805.2:c.11836A>C XP_006711868.1:p.Ser3946Arg
XM_006711806.2:c.11830A>C XP_006711869.1:p.Ser3944Arg
XM_006711807.2:c.11806A>C XP_006711870.1:p.Ser3936Arg
XM_006711808.2:c.11629A>C XP_006711871.1:p.Ser3877Arg
XM_006711810.2:c.11773A>C XP_006711873.1:p.Ser3925Arg
XM_006711802.3:c.11866A>C XP_006711865.1:p.Ser3956Arg
XM_006711803.3:c.11863A>C XP_006711866.1:p.Ser3955Arg
XM_006711804.3:c.11842A>C XP_006711867.1:p.Ser3948Arg
XM_006711805.3:c.11836A>C XP_006711868.1:p.Ser3946Arg
XM_006711806.3:c.11830A>C XP_006711869.1:p.Ser3944Arg
XM_006711807.3:c.11806A>C XP_006711870.1:p.Ser3936Arg
XM_006711808.3:c.11629A>C XP_006711871.1:p.Ser3877Arg
XM_006711810.3:c.11773A>C XP_006711873.1:p.Ser3925Arg
XM_017002028.1:c.11845A>C XP_016857517.1:p.Ser3949Arg
NM_001035.3:c.11812A>C MANE Select NP_001026.2:p.Ser3938Arg