Canonical Allele Identifier: CA2487482447

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784257A= , CM000663.2:g.237784257A=	GRCh38
NC_000001.10:g.237947557A= , CM000663.1:g.237947557A=	GRCh37
NC_000001.9:g.236014180A=	NCBI36
NG_008799.2:g.746856A=
NG_008799.3:g.747074A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3637A=	ENSP00000499659.2:n.*3637A=
ENST00000659194.3:c.12533A=	ENSP00000499653.3:p.Glu4178=
ENST00000660292.2:c.12566A=	ENSP00000499787.2:p.Glu4189=
ENST00000659194.2:c.4722A=
ENST00000366574.7:c.12545A= MANE Select	ENSP00000355533.2:p.Glu4182=
ENST00000659194.1:c.4722A=
ENST00000660292.1:c.2598A=
ENST00000360064.7:c.12497A=	ENSP00000353174.7:p.Glu4166=
ENST00000366574.6:c.12545A=	ENSP00000355533.2:p.Glu4182=
ENST00000609119.1:n.3740A=
NM_001035.2:c.12545A=	NP_001026.2:p.Glu4182=
XM_006711802.2:c.12599A=	XP_006711865.1:p.Glu4200=
XM_006711803.2:c.12596A=	XP_006711866.1:p.Glu4199=
XM_006711804.2:c.12575A=	XP_006711867.1:p.Glu4192=
XM_006711805.2:c.12569A=	XP_006711868.1:p.Glu4190=
XM_006711806.2:c.12563A=	XP_006711869.1:p.Glu4188=
XM_006711807.2:c.12539A=	XP_006711870.1:p.Glu4180=
XM_006711808.2:c.12362A=	XP_006711871.1:p.Glu4121=
XM_006711810.2:c.12506A=	XP_006711873.1:p.Glu4169=
XM_006711802.3:c.12599A=	XP_006711865.1:p.Glu4200=
XM_006711803.3:c.12596A=	XP_006711866.1:p.Glu4199=
XM_006711804.3:c.12575A=	XP_006711867.1:p.Glu4192=
XM_006711805.3:c.12569A=	XP_006711868.1:p.Glu4190=
XM_006711806.3:c.12563A=	XP_006711869.1:p.Glu4188=
XM_006711807.3:c.12539A=	XP_006711870.1:p.Glu4180=
XM_006711808.3:c.12362A=	XP_006711871.1:p.Glu4121=
XM_006711810.3:c.12506A=	XP_006711873.1:p.Glu4169=
XM_017002028.1:c.12578A=	XP_016857517.1:p.Glu4193=
NM_001035.3:c.12545A= MANE Select	NP_001026.2:p.Glu4182=