Canonical Allele Identifier: CA733319128
Gene: RYR2 HGNC NCBI

Linked Data

dbSNP Id: rs1173885389

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237688824del , CM000663.2:g.237688824del GRCh38
NC_000001.10:g.237852124del , CM000663.1:g.237852124del GRCh37
NC_000001.9:g.235918747del NCBI36
NG_008799.2:g.651423del
NG_008799.3:g.651641del

Transcript Alleles

HGVS Amino-acid Change
ENST00000609119.2:c.*102+8247del ENSP00000499659.2:n.*102+8247del
ENST00000659194.3:c.9067+1320del ENSP00000499653.3:n.9067+1320del
ENST00000660292.2:c.9067+1320del ENSP00000499787.2:n.9067+1320del
ENST00000659194.2:c.1256+1320del
ENST00000366574.7:c.9067+1320del MANE Select ENSP00000355533.2:n.9067+1320del
ENST00000659194.1:c.1256+1320del
ENST00000360064.7:c.9019+1320del ENSP00000353174.7:n.9019+1320del
ENST00000366574.6:c.9067+1320del ENSP00000355533.2:n.9067+1320del
ENST00000609119.1:n.205+8247del
NM_001035.2:c.9067+1320del NP_001026.2:n.9067+1320del
XM_006711802.2:c.9097+1320del XP_006711865.1:n.9097+1320del
XM_006711803.2:c.9094+1320del XP_006711866.1:n.9094+1320del
XM_006711804.2:c.9097+1320del XP_006711867.1:n.9097+1320del
XM_006711805.2:c.9067+1320del XP_006711868.1:n.9067+1320del
XM_006711806.2:c.9097+1320del XP_006711869.1:n.9097+1320del
XM_006711807.2:c.9097+1320del XP_006711870.1:n.9097+1320del
XM_006711808.2:c.8861-10141del XP_006711871.1:n.8861-10141del
XM_006711810.2:c.9064+1320del XP_006711873.1:n.9064+1320del
XR_949152.1:n.9328+8247del
XM_006711802.3:c.9097+1320del XP_006711865.1:n.9097+1320del
XM_006711803.3:c.9094+1320del XP_006711866.1:n.9094+1320del
XM_006711804.3:c.9097+1320del XP_006711867.1:n.9097+1320del
XM_006711805.3:c.9067+1320del XP_006711868.1:n.9067+1320del
XM_006711806.3:c.9097+1320del XP_006711869.1:n.9097+1320del
XM_006711807.3:c.9097+1320del XP_006711870.1:n.9097+1320del
XM_006711808.3:c.8861-10141del XP_006711871.1:n.8861-10141del
XM_006711810.3:c.9064+1320del XP_006711873.1:n.9064+1320del
XM_017002028.1:c.9076+1320del XP_016857517.1:n.9076+1320del
XR_949152.2:n.9361+8247del
NM_001035.3:c.9067+1320del MANE Select NP_001026.2:n.9067+1320del