Canonical Allele Identifier: CA2487482421

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784186C= , CM000663.2:g.237784186C=	GRCh38
NC_000001.10:g.237947486C= , CM000663.1:g.237947486C=	GRCh37
NC_000001.9:g.236014109C=	NCBI36
NG_008799.2:g.746785C=
NG_008799.3:g.747003C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3566C=	ENSP00000499659.2:n.*3566C=
ENST00000659194.3:c.12462C=	ENSP00000499653.3:p.Thr4154=
ENST00000660292.2:c.12495C=	ENSP00000499787.2:p.Thr4165=
ENST00000659194.2:c.4651C=
ENST00000366574.7:c.12474C= MANE Select	ENSP00000355533.2:p.Thr4158=
ENST00000659194.1:c.4651C=
ENST00000660292.1:c.2527C=
ENST00000360064.7:c.12426C=	ENSP00000353174.7:p.Thr4142=
ENST00000366574.6:c.12474C=	ENSP00000355533.2:p.Thr4158=
ENST00000609119.1:n.3669C=
NM_001035.2:c.12474C=	NP_001026.2:p.Thr4158=
XM_006711802.2:c.12528C=	XP_006711865.1:p.Thr4176=
XM_006711803.2:c.12525C=	XP_006711866.1:p.Thr4175=
XM_006711804.2:c.12504C=	XP_006711867.1:p.Thr4168=
XM_006711805.2:c.12498C=	XP_006711868.1:p.Thr4166=
XM_006711806.2:c.12492C=	XP_006711869.1:p.Thr4164=
XM_006711807.2:c.12468C=	XP_006711870.1:p.Thr4156=
XM_006711808.2:c.12291C=	XP_006711871.1:p.Thr4097=
XM_006711810.2:c.12435C=	XP_006711873.1:p.Thr4145=
XM_006711802.3:c.12528C=	XP_006711865.1:p.Thr4176=
XM_006711803.3:c.12525C=	XP_006711866.1:p.Thr4175=
XM_006711804.3:c.12504C=	XP_006711867.1:p.Thr4168=
XM_006711805.3:c.12498C=	XP_006711868.1:p.Thr4166=
XM_006711806.3:c.12492C=	XP_006711869.1:p.Thr4164=
XM_006711807.3:c.12468C=	XP_006711870.1:p.Thr4156=
XM_006711808.3:c.12291C=	XP_006711871.1:p.Thr4097=
XM_006711810.3:c.12435C=	XP_006711873.1:p.Thr4145=
XM_017002028.1:c.12507C=	XP_016857517.1:p.Thr4169=
NM_001035.3:c.12474C= MANE Select	NP_001026.2:p.Thr4158=