Canonical Allele Identifier: CA085440

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237792259G>A , CM000663.2:g.237792259G>A	GRCh38
NC_000001.10:g.237955559G>A , CM000663.1:g.237955559G>A	GRCh37
NC_000001.9:g.236022182G>A	NCBI36
NG_008799.2:g.754858G>A
NG_008799.3:g.755076G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*4810G>A	ENSP00000499659.2:n.*4810G>A
ENST00000659194.3:c.13700G>A	ENSP00000499653.3:p.Arg4567His
ENST00000660292.2:c.13739G>A	ENSP00000499787.2:p.Arg4580His
ENST00000659194.2:c.5889G>A
ENST00000366574.7:c.13718G>A MANE Select	ENSP00000355533.2:p.Arg4573His
ENST00000660292.1:c.3771G>A
ENST00000360064.7:c.13667G>A	ENSP00000353174.7:p.Arg4556His
ENST00000366574.6:c.13718G>A	ENSP00000355533.2:p.Arg4573His
ENST00000608590.5:n.229G>A
NM_001035.2:c.13718G>A	NP_001026.2:p.Arg4573His
XM_006711802.2:c.13772G>A	XP_006711865.1:p.Arg4591His
XM_006711803.2:c.13769G>A	XP_006711866.1:p.Arg4590His
XM_006711804.2:c.13748G>A	XP_006711867.1:p.Arg4583His
XM_006711805.2:c.13742G>A	XP_006711868.1:p.Arg4581His
XM_006711806.2:c.13736G>A	XP_006711869.1:p.Arg4579His
XM_006711807.2:c.13712G>A	XP_006711870.1:p.Arg4571His
XM_006711808.2:c.13535G>A	XP_006711871.1:p.Arg4512His
XM_006711810.2:c.13679G>A	XP_006711873.1:p.Arg4560His
XM_006711802.3:c.13772G>A	XP_006711865.1:p.Arg4591His
XM_006711803.3:c.13769G>A	XP_006711866.1:p.Arg4590His
XM_006711804.3:c.13748G>A	XP_006711867.1:p.Arg4583His
XM_006711805.3:c.13742G>A	XP_006711868.1:p.Arg4581His
XM_006711806.3:c.13736G>A	XP_006711869.1:p.Arg4579His
XM_006711807.3:c.13712G>A	XP_006711870.1:p.Arg4571His
XM_006711808.3:c.13535G>A	XP_006711871.1:p.Arg4512His
XM_006711810.3:c.13679G>A	XP_006711873.1:p.Arg4560His
XM_017002028.1:c.13751G>A	XP_016857517.1:p.Arg4584His
NM_001035.3:c.13718G>A MANE Select	NP_001026.2:p.Arg4573His