Canonical Allele Identifier: CA2487482424

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784193G= , CM000663.2:g.237784193G=	GRCh38
NC_000001.10:g.237947493G= , CM000663.1:g.237947493G=	GRCh37
NC_000001.9:g.236014116G=	NCBI36
NG_008799.2:g.746792G=
NG_008799.3:g.747010G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3573G=	ENSP00000499659.2:n.*3573G=
ENST00000659194.3:c.12469G=	ENSP00000499653.3:p.Glu4157=
ENST00000660292.2:c.12502G=	ENSP00000499787.2:p.Glu4168=
ENST00000659194.2:c.4658G=
ENST00000366574.7:c.12481G= MANE Select	ENSP00000355533.2:p.Glu4161=
ENST00000659194.1:c.4658G=
ENST00000660292.1:c.2534G=
ENST00000360064.7:c.12433G=	ENSP00000353174.7:p.Glu4145=
ENST00000366574.6:c.12481G=	ENSP00000355533.2:p.Glu4161=
ENST00000609119.1:n.3676G=
NM_001035.2:c.12481G=	NP_001026.2:p.Glu4161=
XM_006711802.2:c.12535G=	XP_006711865.1:p.Glu4179=
XM_006711803.2:c.12532G=	XP_006711866.1:p.Glu4178=
XM_006711804.2:c.12511G=	XP_006711867.1:p.Glu4171=
XM_006711805.2:c.12505G=	XP_006711868.1:p.Glu4169=
XM_006711806.2:c.12499G=	XP_006711869.1:p.Glu4167=
XM_006711807.2:c.12475G=	XP_006711870.1:p.Glu4159=
XM_006711808.2:c.12298G=	XP_006711871.1:p.Glu4100=
XM_006711810.2:c.12442G=	XP_006711873.1:p.Glu4148=
XM_006711802.3:c.12535G=	XP_006711865.1:p.Glu4179=
XM_006711803.3:c.12532G=	XP_006711866.1:p.Glu4178=
XM_006711804.3:c.12511G=	XP_006711867.1:p.Glu4171=
XM_006711805.3:c.12505G=	XP_006711868.1:p.Glu4169=
XM_006711806.3:c.12499G=	XP_006711869.1:p.Glu4167=
XM_006711807.3:c.12475G=	XP_006711870.1:p.Glu4159=
XM_006711808.3:c.12298G=	XP_006711871.1:p.Glu4100=
XM_006711810.3:c.12442G=	XP_006711873.1:p.Glu4148=
XM_017002028.1:c.12514G=	XP_016857517.1:p.Glu4172=
NM_001035.3:c.12481G= MANE Select	NP_001026.2:p.Glu4161=