Canonical Allele Identifier: CA2651216736
Gene: RYR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237808953_237808955del , CM000663.2:g.237808953_237808955del GRCh38
NC_000001.10:g.237972253_237972255del , CM000663.1:g.237972253_237972255del GRCh37
NC_000001.9:g.236038876_236038878del NCBI36
NG_008799.2:g.771552_771554del
NG_008799.3:g.771770_771772del

Transcript Alleles

HGVS Amino-acid Change
ENST00000609119.2:c.*5443_*5445del ENSP00000499659.2:n.*5443_*5445del
ENST00000659194.3:c.14333_14335del ENSP00000499653.3:p.Val4778del
ENST00000660292.2:c.14372_14374del ENSP00000499787.2:p.Val4791del
ENST00000659194.2:c.6522_6524del
ENST00000366574.7:c.14351_14353del MANE Select ENSP00000355533.2:p.Val4784del
ENST00000360064.7:c.14300_14302del ENSP00000353174.7:p.Val4767del
ENST00000366574.6:c.14351_14353del ENSP00000355533.2:p.Val4784del
ENST00000608590.5:n.862_864del
NM_001035.2:c.14351_14353del NP_001026.2:p.Val4784del
XM_006711802.2:c.14405_14407del XP_006711865.1:p.Val4802del
XM_006711803.2:c.14402_14404del XP_006711866.1:p.Val4801del
XM_006711804.2:c.14381_14383del XP_006711867.1:p.Val4794del
XM_006711805.2:c.14375_14377del XP_006711868.1:p.Val4792del
XM_006711806.2:c.14369_14371del XP_006711869.1:p.Val4790del
XM_006711807.2:c.14345_14347del XP_006711870.1:p.Val4782del
XM_006711808.2:c.14168_14170del XP_006711871.1:p.Val4723del
XM_006711810.2:c.14312_14314del XP_006711873.1:p.Val4771del
XM_006711802.3:c.14405_14407del XP_006711865.1:p.Val4802del
XM_006711803.3:c.14402_14404del XP_006711866.1:p.Val4801del
XM_006711804.3:c.14381_14383del XP_006711867.1:p.Val4794del
XM_006711805.3:c.14375_14377del XP_006711868.1:p.Val4792del
XM_006711806.3:c.14369_14371del XP_006711869.1:p.Val4790del
XM_006711807.3:c.14345_14347del XP_006711870.1:p.Val4782del
XM_006711808.3:c.14168_14170del XP_006711871.1:p.Val4723del
XM_006711810.3:c.14312_14314del XP_006711873.1:p.Val4771del
XM_017002028.1:c.14384_14386del XP_016857517.1:p.Val4795del
NM_001035.3:c.14351_14353del MANE Select NP_001026.2:p.Val4784del