Canonical Allele Identifier: CA2487482418

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784182G= , CM000663.2:g.237784182G=	GRCh38
NC_000001.10:g.237947482G= , CM000663.1:g.237947482G=	GRCh37
NC_000001.9:g.236014105G=	NCBI36
NG_008799.2:g.746781G=
NG_008799.3:g.746999G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3562G=	ENSP00000499659.2:n.*3562G=
ENST00000659194.3:c.12458G=	ENSP00000499653.3:p.Arg4153=
ENST00000660292.2:c.12491G=	ENSP00000499787.2:p.Arg4164=
ENST00000659194.2:c.4647G=
ENST00000366574.7:c.12470G= MANE Select	ENSP00000355533.2:p.Arg4157=
ENST00000659194.1:c.4647G=
ENST00000660292.1:c.2523G=
ENST00000360064.7:c.12422G=	ENSP00000353174.7:p.Arg4141=
ENST00000366574.6:c.12470G=	ENSP00000355533.2:p.Arg4157=
ENST00000609119.1:n.3665G=
NM_001035.2:c.12470G=	NP_001026.2:p.Arg4157=
XM_006711802.2:c.12524G=	XP_006711865.1:p.Arg4175=
XM_006711803.2:c.12521G=	XP_006711866.1:p.Arg4174=
XM_006711804.2:c.12500G=	XP_006711867.1:p.Arg4167=
XM_006711805.2:c.12494G=	XP_006711868.1:p.Arg4165=
XM_006711806.2:c.12488G=	XP_006711869.1:p.Arg4163=
XM_006711807.2:c.12464G=	XP_006711870.1:p.Arg4155=
XM_006711808.2:c.12287G=	XP_006711871.1:p.Arg4096=
XM_006711810.2:c.12431G=	XP_006711873.1:p.Arg4144=
XM_006711802.3:c.12524G=	XP_006711865.1:p.Arg4175=
XM_006711803.3:c.12521G=	XP_006711866.1:p.Arg4174=
XM_006711804.3:c.12500G=	XP_006711867.1:p.Arg4167=
XM_006711805.3:c.12494G=	XP_006711868.1:p.Arg4165=
XM_006711806.3:c.12488G=	XP_006711869.1:p.Arg4163=
XM_006711807.3:c.12464G=	XP_006711870.1:p.Arg4155=
XM_006711808.3:c.12287G=	XP_006711871.1:p.Arg4096=
XM_006711810.3:c.12431G=	XP_006711873.1:p.Arg4144=
XM_017002028.1:c.12503G=	XP_016857517.1:p.Arg4168=
NM_001035.3:c.12470G= MANE Select	NP_001026.2:p.Arg4157=