Canonical Allele Identifier: CA345429398
Gene: RYR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237828422G>T , CM000663.2:g.237828422G>T GRCh38
NC_000001.10:g.237991722G>T , CM000663.1:g.237991722G>T GRCh37
NC_000001.9:g.236058345G>T NCBI36
NG_008799.2:g.791021G>T
NG_008799.3:g.791239G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000609119.2:c.*5724G>T ENSP00000499659.2:n.*5724G>T
ENST00000659194.3:c.14614G>T ENSP00000499653.3:p.Glu4872Ter
ENST00000660292.2:c.14653G>T ENSP00000499787.2:p.Glu4885Ter
ENST00000659194.2:c.6803G>T
ENST00000366574.7:c.14632G>T MANE Select ENSP00000355533.2:p.Glu4878Ter
ENST00000360064.7:c.14581G>T ENSP00000353174.7:p.Glu4861Ter
ENST00000366574.6:c.14632G>T ENSP00000355533.2:p.Glu4878Ter
ENST00000608590.5:n.1143G>T
NM_001035.2:c.14632G>T NP_001026.2:p.Glu4878Ter
XM_006711802.2:c.14686G>T XP_006711865.1:p.Glu4896Ter
XM_006711803.2:c.14683G>T XP_006711866.1:p.Glu4895Ter
XM_006711804.2:c.14662G>T XP_006711867.1:p.Glu4888Ter
XM_006711805.2:c.14656G>T XP_006711868.1:p.Glu4886Ter
XM_006711806.2:c.14650G>T XP_006711869.1:p.Glu4884Ter
XM_006711807.2:c.14626G>T XP_006711870.1:p.Glu4876Ter
XM_006711808.2:c.14449G>T XP_006711871.1:p.Glu4817Ter
XM_006711810.2:c.14593G>T XP_006711873.1:p.Glu4865Ter
XM_006711802.3:c.14686G>T XP_006711865.1:p.Glu4896Ter
XM_006711803.3:c.14683G>T XP_006711866.1:p.Glu4895Ter
XM_006711804.3:c.14662G>T XP_006711867.1:p.Glu4888Ter
XM_006711805.3:c.14656G>T XP_006711868.1:p.Glu4886Ter
XM_006711806.3:c.14650G>T XP_006711869.1:p.Glu4884Ter
XM_006711807.3:c.14626G>T XP_006711870.1:p.Glu4876Ter
XM_006711808.3:c.14449G>T XP_006711871.1:p.Glu4817Ter
XM_006711810.3:c.14593G>T XP_006711873.1:p.Glu4865Ter
XM_017002028.1:c.14665G>T XP_016857517.1:p.Glu4889Ter
NM_001035.3:c.14632G>T MANE Select NP_001026.2:p.Glu4878Ter