Canonical Allele Identifier: CA2487482433

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784222A= , CM000663.2:g.237784222A=	GRCh38
NC_000001.10:g.237947522A= , CM000663.1:g.237947522A=	GRCh37
NC_000001.9:g.236014145A=	NCBI36
NG_008799.2:g.746821A=
NG_008799.3:g.747039A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3602A=	ENSP00000499659.2:n.*3602A=
ENST00000659194.3:c.12498A=	ENSP00000499653.3:p.Arg4166=
ENST00000660292.2:c.12531A=	ENSP00000499787.2:p.Arg4177=
ENST00000659194.2:c.4687A=
ENST00000366574.7:c.12510A= MANE Select	ENSP00000355533.2:p.Arg4170=
ENST00000659194.1:c.4687A=
ENST00000660292.1:c.2563A=
ENST00000360064.7:c.12462A=	ENSP00000353174.7:p.Arg4154=
ENST00000366574.6:c.12510A=	ENSP00000355533.2:p.Arg4170=
ENST00000609119.1:n.3705A=
NM_001035.2:c.12510A=	NP_001026.2:p.Arg4170=
XM_006711802.2:c.12564A=	XP_006711865.1:p.Arg4188=
XM_006711803.2:c.12561A=	XP_006711866.1:p.Arg4187=
XM_006711804.2:c.12540A=	XP_006711867.1:p.Arg4180=
XM_006711805.2:c.12534A=	XP_006711868.1:p.Arg4178=
XM_006711806.2:c.12528A=	XP_006711869.1:p.Arg4176=
XM_006711807.2:c.12504A=	XP_006711870.1:p.Arg4168=
XM_006711808.2:c.12327A=	XP_006711871.1:p.Arg4109=
XM_006711810.2:c.12471A=	XP_006711873.1:p.Arg4157=
XM_006711802.3:c.12564A=	XP_006711865.1:p.Arg4188=
XM_006711803.3:c.12561A=	XP_006711866.1:p.Arg4187=
XM_006711804.3:c.12540A=	XP_006711867.1:p.Arg4180=
XM_006711805.3:c.12534A=	XP_006711868.1:p.Arg4178=
XM_006711806.3:c.12528A=	XP_006711869.1:p.Arg4176=
XM_006711807.3:c.12504A=	XP_006711870.1:p.Arg4168=
XM_006711808.3:c.12327A=	XP_006711871.1:p.Arg4109=
XM_006711810.3:c.12471A=	XP_006711873.1:p.Arg4157=
XM_017002028.1:c.12543A=	XP_016857517.1:p.Arg4181=
NM_001035.3:c.12510A= MANE Select	NP_001026.2:p.Arg4170=