Canonical Allele Identifier: CA345426127

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237819084G>A , CM000663.2:g.237819084G>A	GRCh38
NC_000001.10:g.237982384G>A , CM000663.1:g.237982384G>A	GRCh37
NC_000001.9:g.236049007G>A	NCBI36
NG_008799.2:g.781683G>A
NG_008799.3:g.781901G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.14482G>A MANE Select	NP_001026.2:p.Gly4828Arg
ENST00000366574.7:c.14482G>A MANE Select	ENSP00000355533.2:p.Gly4828Arg
NM_001035.2:c.14482G>A	NP_001026.2:p.Gly4828Arg
ENST00000360064.7:c.14431G>A	ENSP00000353174.7:p.Gly4811Arg
ENST00000366574.6:c.14482G>A	ENSP00000355533.2:p.Gly4828Arg
ENST00000608590.5:n.993G>A
ENST00000609119.2:c.*5574G>A	ENSP00000499659.2:n.*5574G>A
ENST00000659194.2:c.6653G>A
ENST00000659194.3:c.14464G>A	ENSP00000499653.3:p.Gly4822Arg
ENST00000660292.2:c.14503G>A	ENSP00000499787.2:p.Gly4835Arg
XM_006711802.2:c.14536G>A	XP_006711865.1:p.Gly4846Arg
XM_006711802.3:c.14536G>A	XP_006711865.1:p.Gly4846Arg
XM_006711803.2:c.14533G>A	XP_006711866.1:p.Gly4845Arg
XM_006711803.3:c.14533G>A	XP_006711866.1:p.Gly4845Arg
XM_006711804.2:c.14512G>A	XP_006711867.1:p.Gly4838Arg
XM_006711804.3:c.14512G>A	XP_006711867.1:p.Gly4838Arg
XM_006711805.2:c.14506G>A	XP_006711868.1:p.Gly4836Arg
XM_006711805.3:c.14506G>A	XP_006711868.1:p.Gly4836Arg
XM_006711806.2:c.14500G>A	XP_006711869.1:p.Gly4834Arg
XM_006711806.3:c.14500G>A	XP_006711869.1:p.Gly4834Arg
XM_006711807.2:c.14476G>A	XP_006711870.1:p.Gly4826Arg
XM_006711807.3:c.14476G>A	XP_006711870.1:p.Gly4826Arg
XM_006711808.2:c.14299G>A	XP_006711871.1:p.Gly4767Arg
XM_006711808.3:c.14299G>A	XP_006711871.1:p.Gly4767Arg
XM_006711810.2:c.14443G>A	XP_006711873.1:p.Gly4815Arg
XM_006711810.3:c.14443G>A	XP_006711873.1:p.Gly4815Arg
XM_017002028.1:c.14515G>A	XP_016857517.1:p.Gly4839Arg