Canonical Allele Identifier: CA2487482428

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784210G= , CM000663.2:g.237784210G=	GRCh38
NC_000001.10:g.237947510G= , CM000663.1:g.237947510G=	GRCh37
NC_000001.9:g.236014133G=	NCBI36
NG_008799.2:g.746809G=
NG_008799.3:g.747027G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3590G=	ENSP00000499659.2:n.*3590G=
ENST00000659194.3:c.12486G=	ENSP00000499653.3:p.Lys4162=
ENST00000660292.2:c.12519G=	ENSP00000499787.2:p.Lys4173=
ENST00000659194.2:c.4675G=
ENST00000366574.7:c.12498G= MANE Select	ENSP00000355533.2:p.Lys4166=
ENST00000659194.1:c.4675G=
ENST00000660292.1:c.2551G=
ENST00000360064.7:c.12450G=	ENSP00000353174.7:p.Lys4150=
ENST00000366574.6:c.12498G=	ENSP00000355533.2:p.Lys4166=
ENST00000609119.1:n.3693G=
NM_001035.2:c.12498G=	NP_001026.2:p.Lys4166=
XM_006711802.2:c.12552G=	XP_006711865.1:p.Lys4184=
XM_006711803.2:c.12549G=	XP_006711866.1:p.Lys4183=
XM_006711804.2:c.12528G=	XP_006711867.1:p.Lys4176=
XM_006711805.2:c.12522G=	XP_006711868.1:p.Lys4174=
XM_006711806.2:c.12516G=	XP_006711869.1:p.Lys4172=
XM_006711807.2:c.12492G=	XP_006711870.1:p.Lys4164=
XM_006711808.2:c.12315G=	XP_006711871.1:p.Lys4105=
XM_006711810.2:c.12459G=	XP_006711873.1:p.Lys4153=
XM_006711802.3:c.12552G=	XP_006711865.1:p.Lys4184=
XM_006711803.3:c.12549G=	XP_006711866.1:p.Lys4183=
XM_006711804.3:c.12528G=	XP_006711867.1:p.Lys4176=
XM_006711805.3:c.12522G=	XP_006711868.1:p.Lys4174=
XM_006711806.3:c.12516G=	XP_006711869.1:p.Lys4172=
XM_006711807.3:c.12492G=	XP_006711870.1:p.Lys4164=
XM_006711808.3:c.12315G=	XP_006711871.1:p.Lys4105=
XM_006711810.3:c.12459G=	XP_006711873.1:p.Lys4153=
XM_017002028.1:c.12531G=	XP_016857517.1:p.Lys4177=
NM_001035.3:c.12498G= MANE Select	NP_001026.2:p.Lys4166=