Canonical Allele Identifier: CA2487482467

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784292G= , CM000663.2:g.237784292G=	GRCh38
NC_000001.10:g.237947592G= , CM000663.1:g.237947592G=	GRCh37
NC_000001.9:g.236014215G=	NCBI36
NG_008799.2:g.746891G=
NG_008799.3:g.747109G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3672G=	ENSP00000499659.2:n.*3672G=
ENST00000659194.3:c.12568G=	ENSP00000499653.3:p.Glu4190=
ENST00000660292.2:c.12601G=	ENSP00000499787.2:p.Glu4201=
ENST00000659194.2:c.4757G=
ENST00000366574.7:c.12580G= MANE Select	ENSP00000355533.2:p.Glu4194=
ENST00000659194.1:c.4757G=
ENST00000660292.1:c.2633G=
ENST00000360064.7:c.12532G=	ENSP00000353174.7:p.Glu4178=
ENST00000366574.6:c.12580G=	ENSP00000355533.2:p.Glu4194=
ENST00000609119.1:n.3775G=
NM_001035.2:c.12580G=	NP_001026.2:p.Glu4194=
XM_006711802.2:c.12634G=	XP_006711865.1:p.Glu4212=
XM_006711803.2:c.12631G=	XP_006711866.1:p.Glu4211=
XM_006711804.2:c.12610G=	XP_006711867.1:p.Glu4204=
XM_006711805.2:c.12604G=	XP_006711868.1:p.Glu4202=
XM_006711806.2:c.12598G=	XP_006711869.1:p.Glu4200=
XM_006711807.2:c.12574G=	XP_006711870.1:p.Glu4192=
XM_006711808.2:c.12397G=	XP_006711871.1:p.Glu4133=
XM_006711810.2:c.12541G=	XP_006711873.1:p.Glu4181=
XM_006711802.3:c.12634G=	XP_006711865.1:p.Glu4212=
XM_006711803.3:c.12631G=	XP_006711866.1:p.Glu4211=
XM_006711804.3:c.12610G=	XP_006711867.1:p.Glu4204=
XM_006711805.3:c.12604G=	XP_006711868.1:p.Glu4202=
XM_006711806.3:c.12598G=	XP_006711869.1:p.Glu4200=
XM_006711807.3:c.12574G=	XP_006711870.1:p.Glu4192=
XM_006711808.3:c.12397G=	XP_006711871.1:p.Glu4133=
XM_006711810.3:c.12541G=	XP_006711873.1:p.Glu4181=
XM_017002028.1:c.12613G=	XP_016857517.1:p.Glu4205=
NM_001035.3:c.12580G= MANE Select	NP_001026.2:p.Glu4194=