Canonical Allele Identifier: CA39857577
Gene: RYR2 HGNC NCBI

Linked Data

dbSNP Id: rs554460933

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237828314del , CM000663.2:g.237828314del GRCh38
NC_000001.10:g.237991614del , CM000663.1:g.237991614del GRCh37
NC_000001.9:g.236058237del NCBI36
NG_008799.2:g.790913del
NG_008799.3:g.791131del

Transcript Alleles

HGVS Amino-acid change
ENST00000609119.2:c.*5683-67del ENSP00000499659.2:n.*5683-67del
ENST00000659194.3:c.14573-67del ENSP00000499653.3:n.14573-67del
ENST00000660292.2:c.14612-67del ENSP00000499787.2:n.14612-67del
ENST00000659194.2:c.6762-67del
ENST00000366574.7:c.14591-67del MANE Select ENSP00000355533.2:n.14591-67del
ENST00000360064.7:c.14540-67del ENSP00000353174.7:n.14540-67del
ENST00000366574.6:c.14591-67del ENSP00000355533.2:n.14591-67del
ENST00000608590.5:n.1102-67del
NM_001035.2:c.14591-67del NP_001026.2:n.14591-67del
XM_006711802.2:c.14645-67del XP_006711865.1:n.14645-67del
XM_006711803.2:c.14642-67del XP_006711866.1:n.14642-67del
XM_006711804.2:c.14621-67del XP_006711867.1:n.14621-67del
XM_006711805.2:c.14615-67del XP_006711868.1:n.14615-67del
XM_006711806.2:c.14609-67del XP_006711869.1:n.14609-67del
XM_006711807.2:c.14585-67del XP_006711870.1:n.14585-67del
XM_006711808.2:c.14408-67del XP_006711871.1:n.14408-67del
XM_006711810.2:c.14552-67del XP_006711873.1:n.14552-67del
XM_006711802.3:c.14645-67del XP_006711865.1:n.14645-67del
XM_006711803.3:c.14642-67del XP_006711866.1:n.14642-67del
XM_006711804.3:c.14621-67del XP_006711867.1:n.14621-67del
XM_006711805.3:c.14615-67del XP_006711868.1:n.14615-67del
XM_006711806.3:c.14609-67del XP_006711869.1:n.14609-67del
XM_006711807.3:c.14585-67del XP_006711870.1:n.14585-67del
XM_006711808.3:c.14408-67del XP_006711871.1:n.14408-67del
XM_006711810.3:c.14552-67del XP_006711873.1:n.14552-67del
XM_017002028.1:c.14624-67del XP_016857517.1:n.14624-67del
NM_001035.3:c.14591-67del MANE Select NP_001026.2:n.14591-67del