Canonical Allele Identifier: CA085277

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784656G>A , CM000663.2:g.237784656G>A	GRCh38
NC_000001.10:g.237947956G>A , CM000663.1:g.237947956G>A	GRCh37
NC_000001.9:g.236014579G>A	NCBI36
NG_008799.2:g.747255G>A
NG_008799.3:g.747473G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.12944G>A MANE Select	NP_001026.2:p.Gly4315Glu
ENST00000366574.7:c.12944G>A MANE Select	ENSP00000355533.2:p.Gly4315Glu
NM_001035.2:c.12944G>A	NP_001026.2:p.Gly4315Glu
ENST00000360064.7:c.12896G>A	ENSP00000353174.7:p.Gly4299Glu
ENST00000366574.6:c.12944G>A	ENSP00000355533.2:p.Gly4315Glu
ENST00000609119.1:n.4139G>A
ENST00000609119.2:c.*4036G>A	ENSP00000499659.2:n.*4036G>A
ENST00000659194.1:c.5121G>A
ENST00000659194.2:c.5121G>A
ENST00000659194.3:c.12932G>A	ENSP00000499653.3:p.Gly4311Glu
ENST00000660292.1:c.2997G>A
ENST00000660292.2:c.12965G>A	ENSP00000499787.2:p.Gly4322Glu
XM_006711802.2:c.12998G>A	XP_006711865.1:p.Gly4333Glu
XM_006711802.3:c.12998G>A	XP_006711865.1:p.Gly4333Glu
XM_006711803.2:c.12995G>A	XP_006711866.1:p.Gly4332Glu
XM_006711803.3:c.12995G>A	XP_006711866.1:p.Gly4332Glu
XM_006711804.2:c.12974G>A	XP_006711867.1:p.Gly4325Glu
XM_006711804.3:c.12974G>A	XP_006711867.1:p.Gly4325Glu
XM_006711805.2:c.12968G>A	XP_006711868.1:p.Gly4323Glu
XM_006711805.3:c.12968G>A	XP_006711868.1:p.Gly4323Glu
XM_006711806.2:c.12962G>A	XP_006711869.1:p.Gly4321Glu
XM_006711806.3:c.12962G>A	XP_006711869.1:p.Gly4321Glu
XM_006711807.2:c.12938G>A	XP_006711870.1:p.Gly4313Glu
XM_006711807.3:c.12938G>A	XP_006711870.1:p.Gly4313Glu
XM_006711808.2:c.12761G>A	XP_006711871.1:p.Gly4254Glu
XM_006711808.3:c.12761G>A	XP_006711871.1:p.Gly4254Glu
XM_006711810.2:c.12905G>A	XP_006711873.1:p.Gly4302Glu
XM_006711810.3:c.12905G>A	XP_006711873.1:p.Gly4302Glu
XM_017002028.1:c.12977G>A	XP_016857517.1:p.Gly4326Glu