Canonical Allele Identifier: CA2487477013

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237770796_237770797delinsAT , CM000663.2:g.237770796_237770797delinsAT	GRCh38
NC_000001.10:g.237934096_237934097delinsAT , CM000663.1:g.237934096_237934097delinsAT	GRCh37
NC_000001.9:g.236000719_236000720delinsAT	NCBI36
NG_008799.2:g.733395_733396delinsAT
NG_008799.3:g.733613_733614delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2569-11_*2569-10delinsAT	ENSP00000499659.2:n.*2569-11_*2569-10delinsAT
ENST00000659194.3:c.11465-11_11465-10delinsAT	ENSP00000499653.3:n.11465-11_11465-10delinsAT
ENST00000660292.2:c.11498-11_11498-10delinsAT	ENSP00000499787.2:n.11498-11_11498-10delinsAT
ENST00000659194.2:c.3654-11_3654-10delinsAT
ENST00000366574.7:c.11477-11_11477-10delinsAT MANE Select	ENSP00000355533.2:n.11477-11_11477-10delinsAT
ENST00000659194.1:c.3654-11_3654-10delinsAT
ENST00000660292.1:c.1530-11_1530-10delinsAT
ENST00000360064.7:c.11429-11_11429-10delinsAT	ENSP00000353174.7:n.11429-11_11429-10delinsAT
ENST00000366574.6:c.11477-11_11477-10delinsAT	ENSP00000355533.2:n.11477-11_11477-10delinsAT
ENST00000609119.1:n.2672-11_2672-10delinsAT
NM_001035.2:c.11477-11_11477-10delinsAT	NP_001026.2:n.11477-11_11477-10delinsAT
XM_006711802.2:c.11531-11_11531-10delinsAT	XP_006711865.1:n.11531-11_11531-10delinsAT
XM_006711803.2:c.11528-11_11528-10delinsAT	XP_006711866.1:n.11528-11_11528-10delinsAT
XM_006711804.2:c.11507-11_11507-10delinsAT	XP_006711867.1:n.11507-11_11507-10delinsAT
XM_006711805.2:c.11501-11_11501-10delinsAT	XP_006711868.1:n.11501-11_11501-10delinsAT
XM_006711806.2:c.11495-11_11495-10delinsAT	XP_006711869.1:n.11495-11_11495-10delinsAT
XM_006711807.2:c.11471-11_11471-10delinsAT	XP_006711870.1:n.11471-11_11471-10delinsAT
XM_006711808.2:c.11294-11_11294-10delinsAT	XP_006711871.1:n.11294-11_11294-10delinsAT
XM_006711810.2:c.11438-11_11438-10delinsAT	XP_006711873.1:n.11438-11_11438-10delinsAT
XM_006711802.3:c.11531-11_11531-10delinsAT	XP_006711865.1:n.11531-11_11531-10delinsAT
XM_006711803.3:c.11528-11_11528-10delinsAT	XP_006711866.1:n.11528-11_11528-10delinsAT
XM_006711804.3:c.11507-11_11507-10delinsAT	XP_006711867.1:n.11507-11_11507-10delinsAT
XM_006711805.3:c.11501-11_11501-10delinsAT	XP_006711868.1:n.11501-11_11501-10delinsAT
XM_006711806.3:c.11495-11_11495-10delinsAT	XP_006711869.1:n.11495-11_11495-10delinsAT
XM_006711807.3:c.11471-11_11471-10delinsAT	XP_006711870.1:n.11471-11_11471-10delinsAT
XM_006711808.3:c.11294-11_11294-10delinsAT	XP_006711871.1:n.11294-11_11294-10delinsAT
XM_006711810.3:c.11438-11_11438-10delinsAT	XP_006711873.1:n.11438-11_11438-10delinsAT
XM_017002028.1:c.11510-11_11510-10delinsAT	XP_016857517.1:n.11510-11_11510-10delinsAT
NM_001035.3:c.11477-11_11477-10delinsAT MANE Select	NP_001026.2:n.11477-11_11477-10delinsAT