Canonical Allele Identifier: CA345424601
Gene: RYR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237809031T>C , CM000663.2:g.237809031T>C GRCh38
NC_000001.10:g.237972331T>C , CM000663.1:g.237972331T>C GRCh37
NC_000001.9:g.236038954T>C NCBI36
NG_008799.2:g.771630T>C
NG_008799.3:g.771848T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000609119.2:c.*5521T>C ENSP00000499659.2:n.*5521T>C
ENST00000659194.3:c.14411T>C ENSP00000499653.3:p.Leu4804Pro
ENST00000660292.2:c.14450T>C ENSP00000499787.2:p.Leu4817Pro
ENST00000659194.2:c.6600T>C
ENST00000366574.7:c.14429T>C MANE Select ENSP00000355533.2:p.Leu4810Pro
ENST00000360064.7:c.14378T>C ENSP00000353174.7:p.Leu4793Pro
ENST00000366574.6:c.14429T>C ENSP00000355533.2:p.Leu4810Pro
ENST00000608590.5:n.940T>C
NM_001035.2:c.14429T>C NP_001026.2:p.Leu4810Pro
XM_006711802.2:c.14483T>C XP_006711865.1:p.Leu4828Pro
XM_006711803.2:c.14480T>C XP_006711866.1:p.Leu4827Pro
XM_006711804.2:c.14459T>C XP_006711867.1:p.Leu4820Pro
XM_006711805.2:c.14453T>C XP_006711868.1:p.Leu4818Pro
XM_006711806.2:c.14447T>C XP_006711869.1:p.Leu4816Pro
XM_006711807.2:c.14423T>C XP_006711870.1:p.Leu4808Pro
XM_006711808.2:c.14246T>C XP_006711871.1:p.Leu4749Pro
XM_006711810.2:c.14390T>C XP_006711873.1:p.Leu4797Pro
XM_006711802.3:c.14483T>C XP_006711865.1:p.Leu4828Pro
XM_006711803.3:c.14480T>C XP_006711866.1:p.Leu4827Pro
XM_006711804.3:c.14459T>C XP_006711867.1:p.Leu4820Pro
XM_006711805.3:c.14453T>C XP_006711868.1:p.Leu4818Pro
XM_006711806.3:c.14447T>C XP_006711869.1:p.Leu4816Pro
XM_006711807.3:c.14423T>C XP_006711870.1:p.Leu4808Pro
XM_006711808.3:c.14246T>C XP_006711871.1:p.Leu4749Pro
XM_006711810.3:c.14390T>C XP_006711873.1:p.Leu4797Pro
XM_017002028.1:c.14462T>C XP_016857517.1:p.Leu4821Pro
NM_001035.3:c.14429T>C MANE Select NP_001026.2:p.Leu4810Pro