Canonical Allele Identifier: CA2487391264
Gene: RYR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237566429_237566430delinsGA , CM000663.2:g.237566429_237566430delinsGA GRCh38
NC_000001.10:g.237729729_237729730delinsGA , CM000663.1:g.237729729_237729730delinsGA GRCh37
NC_000001.9:g.235796352_235796353delinsGA NCBI36
NG_008799.2:g.529028_529029delinsGA
NG_008799.3:g.529246_529247delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000609119.2:c.3215-138_3215-137delinsGA ENSP00000499659.2:n.3215-138_3215-137delinsGA
ENST00000659194.3:c.3215-138_3215-137delinsGA ENSP00000499653.3:n.3215-138_3215-137delinsGA
ENST00000660292.2:c.3215-138_3215-137delinsGA ENSP00000499787.2:n.3215-138_3215-137delinsGA
ENST00000366574.7:c.3215-138_3215-137delinsGA MANE Select ENSP00000355533.2:n.3215-138_3215-137delinsGA
ENST00000360064.7:c.3167-138_3167-137delinsGA ENSP00000353174.7:n.3167-138_3167-137delinsGA
ENST00000366574.6:c.3215-138_3215-137delinsGA ENSP00000355533.2:n.3215-138_3215-137delinsGA
NM_001035.2:c.3215-138_3215-137delinsGA NP_001026.2:n.3215-138_3215-137delinsGA
XM_006711802.2:c.3215-138_3215-137delinsGA XP_006711865.1:n.3215-138_3215-137delinsGA
XM_006711803.2:c.3215-141_3215-140delinsGA XP_006711866.1:n.3215-141_3215-140delinsGA
XM_006711804.2:c.3215-138_3215-137delinsGA XP_006711867.1:n.3215-138_3215-137delinsGA
XM_006711805.2:c.3215-138_3215-137delinsGA XP_006711868.1:n.3215-138_3215-137delinsGA
XM_006711806.2:c.3215-138_3215-137delinsGA XP_006711869.1:n.3215-138_3215-137delinsGA
XM_006711807.2:c.3215-138_3215-137delinsGA XP_006711870.1:n.3215-138_3215-137delinsGA
XM_006711808.2:c.3215-138_3215-137delinsGA XP_006711871.1:n.3215-138_3215-137delinsGA
XM_006711809.2:c.3215-138_3215-137delinsGA XP_006711872.1:n.3215-138_3215-137delinsGA
XM_006711810.2:c.3215-141_3215-140delinsGA XP_006711873.1:n.3215-141_3215-140delinsGA
XR_949152.1:n.3496-138_3496-137delinsGA
XM_006711802.3:c.3215-138_3215-137delinsGA XP_006711865.1:n.3215-138_3215-137delinsGA
XM_006711803.3:c.3215-141_3215-140delinsGA XP_006711866.1:n.3215-141_3215-140delinsGA
XM_006711804.3:c.3215-138_3215-137delinsGA XP_006711867.1:n.3215-138_3215-137delinsGA
XM_006711805.3:c.3215-138_3215-137delinsGA XP_006711868.1:n.3215-138_3215-137delinsGA
XM_006711806.3:c.3215-138_3215-137delinsGA XP_006711869.1:n.3215-138_3215-137delinsGA
XM_006711807.3:c.3215-138_3215-137delinsGA XP_006711870.1:n.3215-138_3215-137delinsGA
XM_006711808.3:c.3215-138_3215-137delinsGA XP_006711871.1:n.3215-138_3215-137delinsGA
XM_006711810.3:c.3215-141_3215-140delinsGA XP_006711873.1:n.3215-141_3215-140delinsGA
XM_017002028.1:c.3194-138_3194-137delinsGA XP_016857517.1:n.3194-138_3194-137delinsGA
XR_002957299.1:n.3529-138_3529-137delinsGA
XR_949152.2:n.3529-138_3529-137delinsGA
NM_001035.3:c.3215-138_3215-137delinsGA MANE Select NP_001026.2:n.3215-138_3215-137delinsGA