Canonical Allele Identifier: CA2487439298

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237678092G= , CM000663.2:g.237678092G=	GRCh38
NC_000001.10:g.237841392G= , CM000663.1:g.237841392G=	GRCh37
NC_000001.9:g.235908015G=	NCBI36
NG_008799.2:g.640691G=
NG_008799.3:g.640909G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.8831-2364G=	ENSP00000499659.2:n.8831-2364G=
ENST00000659194.3:c.8875G=	ENSP00000499653.3:p.Glu2959=
ENST00000660292.2:c.8875G=	ENSP00000499787.2:p.Glu2959=
ENST00000659194.2:c.1064G=
ENST00000366574.7:c.8875G= MANE Select	ENSP00000355533.2:p.Glu2959=
ENST00000659194.1:c.1064G=
ENST00000360064.7:c.8827G=	ENSP00000353174.7:p.Glu2943=
ENST00000366574.6:c.8875G=	ENSP00000355533.2:p.Glu2959=
ENST00000609119.1:n.84-2364G=
NM_001035.2:c.8875G=	NP_001026.2:p.Glu2959=
XM_006711802.2:c.8905G=	XP_006711865.1:p.Glu2969=
XM_006711803.2:c.8902G=	XP_006711866.1:p.Glu2968=
XM_006711804.2:c.8905G=	XP_006711867.1:p.Glu2969=
XM_006711805.2:c.8875G=	XP_006711868.1:p.Glu2959=
XM_006711806.2:c.8905G=	XP_006711869.1:p.Glu2969=
XM_006711807.2:c.8905G=	XP_006711870.1:p.Glu2969=
XM_006711808.2:c.8860+3246G=	XP_006711871.1:n.8860+3246G=
XM_006711810.2:c.8872G=	XP_006711873.1:p.Glu2958=
XR_949152.1:n.9186G=
XM_006711802.3:c.8905G=	XP_006711865.1:p.Glu2969=
XM_006711803.3:c.8902G=	XP_006711866.1:p.Glu2968=
XM_006711804.3:c.8905G=	XP_006711867.1:p.Glu2969=
XM_006711805.3:c.8875G=	XP_006711868.1:p.Glu2959=
XM_006711806.3:c.8905G=	XP_006711869.1:p.Glu2969=
XM_006711807.3:c.8905G=	XP_006711870.1:p.Glu2969=
XM_006711808.3:c.8860+3246G=	XP_006711871.1:n.8860+3246G=
XM_006711810.3:c.8872G=	XP_006711873.1:p.Glu2958=
XM_017002028.1:c.8884G=	XP_016857517.1:p.Glu2962=
XR_949152.2:n.9219G=
NM_001035.3:c.8875G= MANE Select	NP_001026.2:p.Glu2959=