Canonical Allele Identifier: CA2748278463

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237688702C>A , CM000663.2:g.237688702C>A	GRCh38
NC_000001.10:g.237852002C>A , CM000663.1:g.237852002C>A	GRCh37
NC_000001.9:g.235918625C>A	NCBI36
NG_008799.2:g.651301C>A
NG_008799.3:g.651519C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*102+8125C>A	ENSP00000499659.2:n.*102+8125C>A
ENST00000659194.3:c.9067+1198C>A	ENSP00000499653.3:n.9067+1198C>A
ENST00000660292.2:c.9067+1198C>A	ENSP00000499787.2:n.9067+1198C>A
ENST00000659194.2:c.1256+1198C>A
ENST00000366574.7:c.9067+1198C>A MANE Select	ENSP00000355533.2:n.9067+1198C>A
ENST00000659194.1:c.1256+1198C>A
ENST00000360064.7:c.9019+1198C>A	ENSP00000353174.7:n.9019+1198C>A
ENST00000366574.6:c.9067+1198C>A	ENSP00000355533.2:n.9067+1198C>A
ENST00000609119.1:n.205+8125C>A
NM_001035.2:c.9067+1198C>A	NP_001026.2:n.9067+1198C>A
XM_006711802.2:c.9097+1198C>A	XP_006711865.1:n.9097+1198C>A
XM_006711803.2:c.9094+1198C>A	XP_006711866.1:n.9094+1198C>A
XM_006711804.2:c.9097+1198C>A	XP_006711867.1:n.9097+1198C>A
XM_006711805.2:c.9067+1198C>A	XP_006711868.1:n.9067+1198C>A
XM_006711806.2:c.9097+1198C>A	XP_006711869.1:n.9097+1198C>A
XM_006711807.2:c.9097+1198C>A	XP_006711870.1:n.9097+1198C>A
XM_006711808.2:c.8861-10263C>A	XP_006711871.1:n.8861-10263C>A
XM_006711810.2:c.9064+1198C>A	XP_006711873.1:n.9064+1198C>A
XR_949152.1:n.9328+8125C>A
XM_006711802.3:c.9097+1198C>A	XP_006711865.1:n.9097+1198C>A
XM_006711803.3:c.9094+1198C>A	XP_006711866.1:n.9094+1198C>A
XM_006711804.3:c.9097+1198C>A	XP_006711867.1:n.9097+1198C>A
XM_006711805.3:c.9067+1198C>A	XP_006711868.1:n.9067+1198C>A
XM_006711806.3:c.9097+1198C>A	XP_006711869.1:n.9097+1198C>A
XM_006711807.3:c.9097+1198C>A	XP_006711870.1:n.9097+1198C>A
XM_006711808.3:c.8861-10263C>A	XP_006711871.1:n.8861-10263C>A
XM_006711810.3:c.9064+1198C>A	XP_006711873.1:n.9064+1198C>A
XM_017002028.1:c.9076+1198C>A	XP_016857517.1:n.9076+1198C>A
XR_949152.2:n.9361+8125C>A
NM_001035.3:c.9067+1198C>A MANE Select	NP_001026.2:n.9067+1198C>A