Canonical Allele Identifier: CA2698436138

Gene: RYR2

Linked Data

• dbSNP Id: rs2149353851

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784151dup , CM000663.2:g.237784151dup	GRCh38
NC_000001.10:g.237947451dup , CM000663.1:g.237947451dup	GRCh37
NC_000001.9:g.236014074dup	NCBI36
NG_008799.2:g.746750dup
NG_008799.3:g.746968dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3531dup	ENSP00000499659.2:n.*3531dup
ENST00000659194.3:c.12427dup	ENSP00000499653.3:p.Arg4143LysfsTer5
ENST00000660292.2:c.12460dup	ENSP00000499787.2:p.Arg4154LysfsTer5
ENST00000659194.2:c.4616dup
ENST00000366574.7:c.12439dup MANE Select	ENSP00000355533.2:p.Arg4147LysfsTer5
ENST00000659194.1:c.4616dup
ENST00000660292.1:c.2492dup
ENST00000360064.7:c.12391dup	ENSP00000353174.7:p.Arg4131LysfsTer5
ENST00000366574.6:c.12439dup	ENSP00000355533.2:p.Arg4147LysfsTer5
ENST00000609119.1:n.3634dup
NM_001035.2:c.12439dup	NP_001026.2:p.Arg4147LysfsTer5
XM_006711802.2:c.12493dup	XP_006711865.1:p.Arg4165LysfsTer5
XM_006711803.2:c.12490dup	XP_006711866.1:p.Arg4164LysfsTer5
XM_006711804.2:c.12469dup	XP_006711867.1:p.Arg4157LysfsTer5
XM_006711805.2:c.12463dup	XP_006711868.1:p.Arg4155LysfsTer5
XM_006711806.2:c.12457dup	XP_006711869.1:p.Arg4153LysfsTer5
XM_006711807.2:c.12433dup	XP_006711870.1:p.Arg4145LysfsTer5
XM_006711808.2:c.12256dup	XP_006711871.1:p.Arg4086LysfsTer5
XM_006711810.2:c.12400dup	XP_006711873.1:p.Arg4134LysfsTer5
XM_006711802.3:c.12493dup	XP_006711865.1:p.Arg4165LysfsTer5
XM_006711803.3:c.12490dup	XP_006711866.1:p.Arg4164LysfsTer5
XM_006711804.3:c.12469dup	XP_006711867.1:p.Arg4157LysfsTer5
XM_006711805.3:c.12463dup	XP_006711868.1:p.Arg4155LysfsTer5
XM_006711806.3:c.12457dup	XP_006711869.1:p.Arg4153LysfsTer5
XM_006711807.3:c.12433dup	XP_006711870.1:p.Arg4145LysfsTer5
XM_006711808.3:c.12256dup	XP_006711871.1:p.Arg4086LysfsTer5
XM_006711810.3:c.12400dup	XP_006711873.1:p.Arg4134LysfsTer5
XM_017002028.1:c.12472dup	XP_016857517.1:p.Arg4158LysfsTer5
NM_001035.3:c.12439dup MANE Select	NP_001026.2:p.Arg4147LysfsTer5