Canonical Allele Identifier: CA2487298335
Gene: RYR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237347631_237347632delinsAT , CM000663.2:g.237347631_237347632delinsAT GRCh38
NC_000001.10:g.237510931_237510932delinsAT , CM000663.1:g.237510931_237510932delinsAT GRCh37
NC_000001.9:g.235577554_235577555delinsAT NCBI36
NG_008799.2:g.310230_310231delinsAT
NG_008799.3:g.310448_310449delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000609119.2:c.274-8334_274-8333delinsAT ENSP00000499659.2:n.274-8334_274-8333delinsAT
ENST00000659194.3:c.274-8334_274-8333delinsAT ENSP00000499653.3:n.274-8334_274-8333delinsAT
ENST00000660292.2:c.274-8334_274-8333delinsAT ENSP00000499787.2:n.274-8334_274-8333delinsAT
ENST00000366574.7:c.274-8334_274-8333delinsAT MANE Select ENSP00000355533.2:n.274-8334_274-8333delinsAT
ENST00000360064.7:c.226-8334_226-8333delinsAT ENSP00000353174.7:n.226-8334_226-8333delinsAT
ENST00000366574.6:c.274-8334_274-8333delinsAT ENSP00000355533.2:n.274-8334_274-8333delinsAT
NM_001035.2:c.274-8334_274-8333delinsAT NP_001026.2:n.274-8334_274-8333delinsAT
XM_006711802.2:c.274-8334_274-8333delinsAT XP_006711865.1:n.274-8334_274-8333delinsAT
XM_006711803.2:c.274-8334_274-8333delinsAT XP_006711866.1:n.274-8334_274-8333delinsAT
XM_006711804.2:c.274-8334_274-8333delinsAT XP_006711867.1:n.274-8334_274-8333delinsAT
XM_006711805.2:c.274-8334_274-8333delinsAT XP_006711868.1:n.274-8334_274-8333delinsAT
XM_006711806.2:c.274-8334_274-8333delinsAT XP_006711869.1:n.274-8334_274-8333delinsAT
XM_006711807.2:c.274-8334_274-8333delinsAT XP_006711870.1:n.274-8334_274-8333delinsAT
XM_006711808.2:c.274-8334_274-8333delinsAT XP_006711871.1:n.274-8334_274-8333delinsAT
XM_006711809.2:c.274-8334_274-8333delinsAT XP_006711872.1:n.274-8334_274-8333delinsAT
XM_006711810.2:c.274-8334_274-8333delinsAT XP_006711873.1:n.274-8334_274-8333delinsAT
XR_949152.1:n.555-8334_555-8333delinsAT
XM_006711802.3:c.274-8334_274-8333delinsAT XP_006711865.1:n.274-8334_274-8333delinsAT
XM_006711803.3:c.274-8334_274-8333delinsAT XP_006711866.1:n.274-8334_274-8333delinsAT
XM_006711804.3:c.274-8334_274-8333delinsAT XP_006711867.1:n.274-8334_274-8333delinsAT
XM_006711805.3:c.274-8334_274-8333delinsAT XP_006711868.1:n.274-8334_274-8333delinsAT
XM_006711806.3:c.274-8334_274-8333delinsAT XP_006711869.1:n.274-8334_274-8333delinsAT
XM_006711807.3:c.274-8334_274-8333delinsAT XP_006711870.1:n.274-8334_274-8333delinsAT
XM_006711808.3:c.274-8334_274-8333delinsAT XP_006711871.1:n.274-8334_274-8333delinsAT
XM_006711810.3:c.274-8334_274-8333delinsAT XP_006711873.1:n.274-8334_274-8333delinsAT
XM_017002028.1:c.273+16649_273+16650delinsAT XP_016857517.1:n.273+16649_273+16650delinsAT
XR_002957299.1:n.588-8334_588-8333delinsAT
XR_949152.2:n.588-8334_588-8333delinsAT
NM_001035.3:c.274-8334_274-8333delinsAT MANE Select NP_001026.2:n.274-8334_274-8333delinsAT