Canonical Allele Identifier: CA2487482425

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784199C= , CM000663.2:g.237784199C=	GRCh38
NC_000001.10:g.237947499C= , CM000663.1:g.237947499C=	GRCh37
NC_000001.9:g.236014122C=	NCBI36
NG_008799.2:g.746798C=
NG_008799.3:g.747016C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3579C=	ENSP00000499659.2:n.*3579C=
ENST00000659194.3:c.12475C=	ENSP00000499653.3:p.Pro4159=
ENST00000660292.2:c.12508C=	ENSP00000499787.2:p.Pro4170=
ENST00000659194.2:c.4664C=
ENST00000366574.7:c.12487C= MANE Select	ENSP00000355533.2:p.Pro4163=
ENST00000659194.1:c.4664C=
ENST00000660292.1:c.2540C=
ENST00000360064.7:c.12439C=	ENSP00000353174.7:p.Pro4147=
ENST00000366574.6:c.12487C=	ENSP00000355533.2:p.Pro4163=
ENST00000609119.1:n.3682C=
NM_001035.2:c.12487C=	NP_001026.2:p.Pro4163=
XM_006711802.2:c.12541C=	XP_006711865.1:p.Pro4181=
XM_006711803.2:c.12538C=	XP_006711866.1:p.Pro4180=
XM_006711804.2:c.12517C=	XP_006711867.1:p.Pro4173=
XM_006711805.2:c.12511C=	XP_006711868.1:p.Pro4171=
XM_006711806.2:c.12505C=	XP_006711869.1:p.Pro4169=
XM_006711807.2:c.12481C=	XP_006711870.1:p.Pro4161=
XM_006711808.2:c.12304C=	XP_006711871.1:p.Pro4102=
XM_006711810.2:c.12448C=	XP_006711873.1:p.Pro4150=
XM_006711802.3:c.12541C=	XP_006711865.1:p.Pro4181=
XM_006711803.3:c.12538C=	XP_006711866.1:p.Pro4180=
XM_006711804.3:c.12517C=	XP_006711867.1:p.Pro4173=
XM_006711805.3:c.12511C=	XP_006711868.1:p.Pro4171=
XM_006711806.3:c.12505C=	XP_006711869.1:p.Pro4169=
XM_006711807.3:c.12481C=	XP_006711870.1:p.Pro4161=
XM_006711808.3:c.12304C=	XP_006711871.1:p.Pro4102=
XM_006711810.3:c.12448C=	XP_006711873.1:p.Pro4150=
XM_017002028.1:c.12520C=	XP_016857517.1:p.Pro4174=
NM_001035.3:c.12487C= MANE Select	NP_001026.2:p.Pro4163=