Canonical Allele Identifier: CA345383834
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1171104
dbSNP Id: rs754312807

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237417111C>A , CM000663.2:g.237417111C>A GRCh38
NC_000001.10:g.237580411C>A , CM000663.1:g.237580411C>A GRCh37
NC_000001.9:g.235647034C>A NCBI36
NG_008799.2:g.379710C>A
NG_008799.3:g.379928C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000609119.2:c.836C>A ENSP00000499659.2:p.Thr279Lys
ENST00000659194.3:c.836C>A ENSP00000499653.3:p.Thr279Lys
ENST00000660292.2:c.836C>A ENSP00000499787.2:p.Thr279Lys
ENST00000366574.7:c.836C>A MANE Select ENSP00000355533.2:p.Thr279Lys
ENST00000360064.7:c.788C>A ENSP00000353174.7:p.Thr263Lys
ENST00000366574.6:c.836C>A ENSP00000355533.2:p.Thr279Lys
NM_001035.2:c.836C>A NP_001026.2:p.Thr279Lys
XM_006711802.2:c.836C>A XP_006711865.1:p.Thr279Lys
XM_006711803.2:c.836C>A XP_006711866.1:p.Thr279Lys
XM_006711804.2:c.836C>A XP_006711867.1:p.Thr279Lys
XM_006711805.2:c.836C>A XP_006711868.1:p.Thr279Lys
XM_006711806.2:c.836C>A XP_006711869.1:p.Thr279Lys
XM_006711807.2:c.836C>A XP_006711870.1:p.Thr279Lys
XM_006711808.2:c.836C>A XP_006711871.1:p.Thr279Lys
XM_006711809.2:c.836C>A XP_006711872.1:p.Thr279Lys
XM_006711810.2:c.836C>A XP_006711873.1:p.Thr279Lys
XR_949152.1:n.1117C>A
XM_006711802.3:c.836C>A XP_006711865.1:p.Thr279Lys
XM_006711803.3:c.836C>A XP_006711866.1:p.Thr279Lys
XM_006711804.3:c.836C>A XP_006711867.1:p.Thr279Lys
XM_006711805.3:c.836C>A XP_006711868.1:p.Thr279Lys
XM_006711806.3:c.836C>A XP_006711869.1:p.Thr279Lys
XM_006711807.3:c.836C>A XP_006711870.1:p.Thr279Lys
XM_006711808.3:c.836C>A XP_006711871.1:p.Thr279Lys
XM_006711810.3:c.836C>A XP_006711873.1:p.Thr279Lys
XM_017002028.1:c.815C>A XP_016857517.1:p.Thr272Lys
XR_002957299.1:n.1150C>A
XR_949152.2:n.1150C>A
NM_001035.3:c.836C>A MANE Select NP_001026.2:p.Thr279Lys