Canonical Allele Identifier: CA2574453304

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237770784del , CM000663.2:g.237770784del	GRCh38
NC_000001.10:g.237934084del , CM000663.1:g.237934084del	GRCh37
NC_000001.9:g.236000707del	NCBI36
NG_008799.2:g.733383del
NG_008799.3:g.733601del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2569-23del	ENSP00000499659.2:n.*2569-23del
ENST00000659194.3:c.11465-23del	ENSP00000499653.3:n.11465-23del
ENST00000660292.2:c.11498-23del	ENSP00000499787.2:n.11498-23del
ENST00000659194.2:c.3654-23del
ENST00000366574.7:c.11477-23del MANE Select	ENSP00000355533.2:n.11477-23del
ENST00000659194.1:c.3654-23del
ENST00000660292.1:c.1530-23del
ENST00000360064.7:c.11429-23del	ENSP00000353174.7:n.11429-23del
ENST00000366574.6:c.11477-23del	ENSP00000355533.2:n.11477-23del
ENST00000609119.1:n.2672-23del
NM_001035.2:c.11477-23del	NP_001026.2:n.11477-23del
XM_006711802.2:c.11531-23del	XP_006711865.1:n.11531-23del
XM_006711803.2:c.11528-23del	XP_006711866.1:n.11528-23del
XM_006711804.2:c.11507-23del	XP_006711867.1:n.11507-23del
XM_006711805.2:c.11501-23del	XP_006711868.1:n.11501-23del
XM_006711806.2:c.11495-23del	XP_006711869.1:n.11495-23del
XM_006711807.2:c.11471-23del	XP_006711870.1:n.11471-23del
XM_006711808.2:c.11294-23del	XP_006711871.1:n.11294-23del
XM_006711810.2:c.11438-23del	XP_006711873.1:n.11438-23del
XM_006711802.3:c.11531-23del	XP_006711865.1:n.11531-23del
XM_006711803.3:c.11528-23del	XP_006711866.1:n.11528-23del
XM_006711804.3:c.11507-23del	XP_006711867.1:n.11507-23del
XM_006711805.3:c.11501-23del	XP_006711868.1:n.11501-23del
XM_006711806.3:c.11495-23del	XP_006711869.1:n.11495-23del
XM_006711807.3:c.11471-23del	XP_006711870.1:n.11471-23del
XM_006711808.3:c.11294-23del	XP_006711871.1:n.11294-23del
XM_006711810.3:c.11438-23del	XP_006711873.1:n.11438-23del
XM_017002028.1:c.11510-23del	XP_016857517.1:n.11510-23del
NM_001035.3:c.11477-23del MANE Select	NP_001026.2:n.11477-23del