Canonical Allele Identifier: CA2487482407

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784152G= , CM000663.2:g.237784152G=	GRCh38
NC_000001.10:g.237947452G= , CM000663.1:g.237947452G=	GRCh37
NC_000001.9:g.236014075G=	NCBI36
NG_008799.2:g.746751G=
NG_008799.3:g.746969G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3532G=	ENSP00000499659.2:n.*3532G=
ENST00000659194.3:c.12428G=	ENSP00000499653.3:p.Arg4143=
ENST00000660292.2:c.12461G=	ENSP00000499787.2:p.Arg4154=
ENST00000659194.2:c.4617G=
ENST00000366574.7:c.12440G= MANE Select	ENSP00000355533.2:p.Arg4147=
ENST00000659194.1:c.4617G=
ENST00000660292.1:c.2493G=
ENST00000360064.7:c.12392G=	ENSP00000353174.7:p.Arg4131=
ENST00000366574.6:c.12440G=	ENSP00000355533.2:p.Arg4147=
ENST00000609119.1:n.3635G=
NM_001035.2:c.12440G=	NP_001026.2:p.Arg4147=
XM_006711802.2:c.12494G=	XP_006711865.1:p.Arg4165=
XM_006711803.2:c.12491G=	XP_006711866.1:p.Arg4164=
XM_006711804.2:c.12470G=	XP_006711867.1:p.Arg4157=
XM_006711805.2:c.12464G=	XP_006711868.1:p.Arg4155=
XM_006711806.2:c.12458G=	XP_006711869.1:p.Arg4153=
XM_006711807.2:c.12434G=	XP_006711870.1:p.Arg4145=
XM_006711808.2:c.12257G=	XP_006711871.1:p.Arg4086=
XM_006711810.2:c.12401G=	XP_006711873.1:p.Arg4134=
XM_006711802.3:c.12494G=	XP_006711865.1:p.Arg4165=
XM_006711803.3:c.12491G=	XP_006711866.1:p.Arg4164=
XM_006711804.3:c.12470G=	XP_006711867.1:p.Arg4157=
XM_006711805.3:c.12464G=	XP_006711868.1:p.Arg4155=
XM_006711806.3:c.12458G=	XP_006711869.1:p.Arg4153=
XM_006711807.3:c.12434G=	XP_006711870.1:p.Arg4145=
XM_006711808.3:c.12257G=	XP_006711871.1:p.Arg4086=
XM_006711810.3:c.12401G=	XP_006711873.1:p.Arg4134=
XM_017002028.1:c.12473G=	XP_016857517.1:p.Arg4158=
NM_001035.3:c.12440G= MANE Select	NP_001026.2:p.Arg4147=