Canonical Allele Identifier: CA2487493394

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808970C= , CM000663.2:g.237808970C=	GRCh38
NC_000001.10:g.237972270C= , CM000663.1:g.237972270C=	GRCh37
NC_000001.9:g.236038893C=	NCBI36
NG_008799.2:g.771569C=
NG_008799.3:g.771787C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5460C=	ENSP00000499659.2:n.*5460C=
ENST00000659194.3:c.14350C=	ENSP00000499653.3:p.Arg4784=
ENST00000660292.2:c.14389C=	ENSP00000499787.2:p.Arg4797=
ENST00000659194.2:c.6539C=
ENST00000366574.7:c.14368C= MANE Select	ENSP00000355533.2:p.Arg4790=
ENST00000360064.7:c.14317C=	ENSP00000353174.7:p.Arg4773=
ENST00000366574.6:c.14368C=	ENSP00000355533.2:p.Arg4790=
ENST00000608590.5:n.879C=
NM_001035.2:c.14368C=	NP_001026.2:p.Arg4790=
XM_006711802.2:c.14422C=	XP_006711865.1:p.Arg4808=
XM_006711803.2:c.14419C=	XP_006711866.1:p.Arg4807=
XM_006711804.2:c.14398C=	XP_006711867.1:p.Arg4800=
XM_006711805.2:c.14392C=	XP_006711868.1:p.Arg4798=
XM_006711806.2:c.14386C=	XP_006711869.1:p.Arg4796=
XM_006711807.2:c.14362C=	XP_006711870.1:p.Arg4788=
XM_006711808.2:c.14185C=	XP_006711871.1:p.Arg4729=
XM_006711810.2:c.14329C=	XP_006711873.1:p.Arg4777=
XM_006711802.3:c.14422C=	XP_006711865.1:p.Arg4808=
XM_006711803.3:c.14419C=	XP_006711866.1:p.Arg4807=
XM_006711804.3:c.14398C=	XP_006711867.1:p.Arg4800=
XM_006711805.3:c.14392C=	XP_006711868.1:p.Arg4798=
XM_006711806.3:c.14386C=	XP_006711869.1:p.Arg4796=
XM_006711807.3:c.14362C=	XP_006711870.1:p.Arg4788=
XM_006711808.3:c.14185C=	XP_006711871.1:p.Arg4729=
XM_006711810.3:c.14329C=	XP_006711873.1:p.Arg4777=
XM_017002028.1:c.14401C=	XP_016857517.1:p.Arg4801=
NM_001035.3:c.14368C= MANE Select	NP_001026.2:p.Arg4790=