Canonical Allele Identifier: CA2487482404

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784148G= , CM000663.2:g.237784148G=	GRCh38
NC_000001.10:g.237947448G= , CM000663.1:g.237947448G=	GRCh37
NC_000001.9:g.236014071G=	NCBI36
NG_008799.2:g.746747G=
NG_008799.3:g.746965G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3528G=	ENSP00000499659.2:n.*3528G=
ENST00000659194.3:c.12424G=	ENSP00000499653.3:p.Glu4142=
ENST00000660292.2:c.12457G=	ENSP00000499787.2:p.Glu4153=
ENST00000659194.2:c.4613G=
ENST00000366574.7:c.12436G= MANE Select	ENSP00000355533.2:p.Glu4146=
ENST00000659194.1:c.4613G=
ENST00000660292.1:c.2489G=
ENST00000360064.7:c.12388G=	ENSP00000353174.7:p.Glu4130=
ENST00000366574.6:c.12436G=	ENSP00000355533.2:p.Glu4146=
ENST00000609119.1:n.3631G=
NM_001035.2:c.12436G=	NP_001026.2:p.Glu4146=
XM_006711802.2:c.12490G=	XP_006711865.1:p.Glu4164=
XM_006711803.2:c.12487G=	XP_006711866.1:p.Glu4163=
XM_006711804.2:c.12466G=	XP_006711867.1:p.Glu4156=
XM_006711805.2:c.12460G=	XP_006711868.1:p.Glu4154=
XM_006711806.2:c.12454G=	XP_006711869.1:p.Glu4152=
XM_006711807.2:c.12430G=	XP_006711870.1:p.Glu4144=
XM_006711808.2:c.12253G=	XP_006711871.1:p.Glu4085=
XM_006711810.2:c.12397G=	XP_006711873.1:p.Glu4133=
XM_006711802.3:c.12490G=	XP_006711865.1:p.Glu4164=
XM_006711803.3:c.12487G=	XP_006711866.1:p.Glu4163=
XM_006711804.3:c.12466G=	XP_006711867.1:p.Glu4156=
XM_006711805.3:c.12460G=	XP_006711868.1:p.Glu4154=
XM_006711806.3:c.12454G=	XP_006711869.1:p.Glu4152=
XM_006711807.3:c.12430G=	XP_006711870.1:p.Glu4144=
XM_006711808.3:c.12253G=	XP_006711871.1:p.Glu4085=
XM_006711810.3:c.12397G=	XP_006711873.1:p.Glu4133=
XM_017002028.1:c.12469G=	XP_016857517.1:p.Glu4157=
NM_001035.3:c.12436G= MANE Select	NP_001026.2:p.Glu4146=