Canonical Allele Identifier: CA1144183738

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784204G= , CM000663.2:g.237784204G=	GRCh38
NC_000001.10:g.237947504G= , CM000663.1:g.237947504G=	GRCh37
NC_000001.9:g.236014127G=	NCBI36
NG_008799.2:g.746803G=
NG_008799.3:g.747021G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3584G=	ENSP00000499659.2:n.*3584G=
ENST00000659194.3:c.12480G=	ENSP00000499653.3:p.Gln4160=
ENST00000660292.2:c.12513G=	ENSP00000499787.2:p.Gln4171=
ENST00000659194.2:c.4669G=
ENST00000366574.7:c.12492G= MANE Select	ENSP00000355533.2:p.Gln4164=
ENST00000659194.1:c.4669G=
ENST00000660292.1:c.2545G=
ENST00000360064.7:c.12444G=	ENSP00000353174.7:p.Gln4148=
ENST00000366574.6:c.12492G=	ENSP00000355533.2:p.Gln4164=
ENST00000609119.1:n.3687G=
NM_001035.2:c.12492G=	NP_001026.2:p.Gln4164=
XM_006711802.2:c.12546G=	XP_006711865.1:p.Gln4182=
XM_006711803.2:c.12543G=	XP_006711866.1:p.Gln4181=
XM_006711804.2:c.12522G=	XP_006711867.1:p.Gln4174=
XM_006711805.2:c.12516G=	XP_006711868.1:p.Gln4172=
XM_006711806.2:c.12510G=	XP_006711869.1:p.Gln4170=
XM_006711807.2:c.12486G=	XP_006711870.1:p.Gln4162=
XM_006711808.2:c.12309G=	XP_006711871.1:p.Gln4103=
XM_006711810.2:c.12453G=	XP_006711873.1:p.Gln4151=
XM_006711802.3:c.12546G=	XP_006711865.1:p.Gln4182=
XM_006711803.3:c.12543G=	XP_006711866.1:p.Gln4181=
XM_006711804.3:c.12522G=	XP_006711867.1:p.Gln4174=
XM_006711805.3:c.12516G=	XP_006711868.1:p.Gln4172=
XM_006711806.3:c.12510G=	XP_006711869.1:p.Gln4170=
XM_006711807.3:c.12486G=	XP_006711870.1:p.Gln4162=
XM_006711808.3:c.12309G=	XP_006711871.1:p.Gln4103=
XM_006711810.3:c.12453G=	XP_006711873.1:p.Gln4151=
XM_017002028.1:c.12525G=	XP_016857517.1:p.Gln4175=
NM_001035.3:c.12492G= MANE Select	NP_001026.2:p.Gln4164=