Canonical Allele Identifier: CA2487482383

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784097T= , CM000663.2:g.237784097T=	GRCh38
NC_000001.10:g.237947397T= , CM000663.1:g.237947397T=	GRCh37
NC_000001.9:g.236014020T=	NCBI36
NG_008799.2:g.746696T=
NG_008799.3:g.746914T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3477T=	ENSP00000499659.2:n.*3477T=
ENST00000659194.3:c.12373T=	ENSP00000499653.3:p.Phe4125=
ENST00000660292.2:c.12406T=	ENSP00000499787.2:p.Phe4136=
ENST00000659194.2:c.4562T=
ENST00000366574.7:c.12385T= MANE Select	ENSP00000355533.2:p.Phe4129=
ENST00000659194.1:c.4562T=
ENST00000660292.1:c.2438T=
ENST00000360064.7:c.12337T=	ENSP00000353174.7:p.Phe4113=
ENST00000366574.6:c.12385T=	ENSP00000355533.2:p.Phe4129=
ENST00000609119.1:n.3580T=
NM_001035.2:c.12385T=	NP_001026.2:p.Phe4129=
XM_006711802.2:c.12439T=	XP_006711865.1:p.Phe4147=
XM_006711803.2:c.12436T=	XP_006711866.1:p.Phe4146=
XM_006711804.2:c.12415T=	XP_006711867.1:p.Phe4139=
XM_006711805.2:c.12409T=	XP_006711868.1:p.Phe4137=
XM_006711806.2:c.12403T=	XP_006711869.1:p.Phe4135=
XM_006711807.2:c.12379T=	XP_006711870.1:p.Phe4127=
XM_006711808.2:c.12202T=	XP_006711871.1:p.Phe4068=
XM_006711810.2:c.12346T=	XP_006711873.1:p.Phe4116=
XM_006711802.3:c.12439T=	XP_006711865.1:p.Phe4147=
XM_006711803.3:c.12436T=	XP_006711866.1:p.Phe4146=
XM_006711804.3:c.12415T=	XP_006711867.1:p.Phe4139=
XM_006711805.3:c.12409T=	XP_006711868.1:p.Phe4137=
XM_006711806.3:c.12403T=	XP_006711869.1:p.Phe4135=
XM_006711807.3:c.12379T=	XP_006711870.1:p.Phe4127=
XM_006711808.3:c.12202T=	XP_006711871.1:p.Phe4068=
XM_006711810.3:c.12346T=	XP_006711873.1:p.Phe4116=
XM_017002028.1:c.12418T=	XP_016857517.1:p.Phe4140=
NM_001035.3:c.12385T= MANE Select	NP_001026.2:p.Phe4129=