Canonical Allele Identifier: CA2651204897
Gene: RYR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237633530del , CM000663.2:g.237633530del GRCh38
NC_000001.10:g.237796830del , CM000663.1:g.237796830del GRCh37
NC_000001.9:g.235863453del NCBI36
NG_008799.2:g.596129del
NG_008799.3:g.596347del

Transcript Alleles

HGVS Amino-acid Change
ENST00000609119.2:c.6556-48del ENSP00000499659.2:n.6556-48del
ENST00000659194.3:c.6556-48del ENSP00000499653.3:n.6556-48del
ENST00000660292.2:c.6556-48del ENSP00000499787.2:n.6556-48del
ENST00000366574.7:c.6556-48del MANE Select ENSP00000355533.2:n.6556-48del
ENST00000360064.7:c.6508-48del ENSP00000353174.7:n.6508-48del
ENST00000366574.6:c.6556-48del ENSP00000355533.2:n.6556-48del
NM_001035.2:c.6556-48del NP_001026.2:n.6556-48del
XM_006711802.2:c.6586-48del XP_006711865.1:n.6586-48del
XM_006711803.2:c.6583-48del XP_006711866.1:n.6583-48del
XM_006711804.2:c.6586-48del XP_006711867.1:n.6586-48del
XM_006711805.2:c.6556-48del XP_006711868.1:n.6556-48del
XM_006711806.2:c.6586-48del XP_006711869.1:n.6586-48del
XM_006711807.2:c.6586-48del XP_006711870.1:n.6586-48del
XM_006711808.2:c.6586-48del XP_006711871.1:n.6586-48del
XM_006711809.2:c.6586-48del XP_006711872.1:n.6586-48del
XM_006711810.2:c.6553-48del XP_006711873.1:n.6553-48del
XR_949152.1:n.6867-48del
XM_006711802.3:c.6586-48del XP_006711865.1:n.6586-48del
XM_006711803.3:c.6583-48del XP_006711866.1:n.6583-48del
XM_006711804.3:c.6586-48del XP_006711867.1:n.6586-48del
XM_006711805.3:c.6556-48del XP_006711868.1:n.6556-48del
XM_006711806.3:c.6586-48del XP_006711869.1:n.6586-48del
XM_006711807.3:c.6586-48del XP_006711870.1:n.6586-48del
XM_006711808.3:c.6586-48del XP_006711871.1:n.6586-48del
XM_006711810.3:c.6553-48del XP_006711873.1:n.6553-48del
XM_017002028.1:c.6565-48del XP_016857517.1:n.6565-48del
XR_002957299.1:n.6900-48del
XR_949152.2:n.6900-48del
NM_001035.3:c.6556-48del MANE Select NP_001026.2:n.6556-48del