Canonical Allele Identifier: CA345409335

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237778727G>A , CM000663.2:g.237778727G>A	GRCh38
NC_000001.10:g.237942027G>A , CM000663.1:g.237942027G>A	GRCh37
NC_000001.9:g.236008650G>A	NCBI36
NG_008799.2:g.741326G>A
NG_008799.3:g.741544G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.11837G>A MANE Select	NP_001026.2:p.Gly3946Asp
ENST00000366574.7:c.11837G>A MANE Select	ENSP00000355533.2:p.Gly3946Asp
NM_001035.2:c.11837G>A	NP_001026.2:p.Gly3946Asp
ENST00000360064.7:c.11789G>A	ENSP00000353174.7:p.Gly3930Asp
ENST00000366574.6:c.11837G>A	ENSP00000355533.2:p.Gly3946Asp
ENST00000609119.1:n.3032G>A
ENST00000609119.2:c.*2929G>A	ENSP00000499659.2:n.*2929G>A
ENST00000659194.1:c.4014G>A
ENST00000659194.2:c.4014G>A
ENST00000659194.3:c.11825G>A	ENSP00000499653.3:p.Gly3942Asp
ENST00000660292.1:c.1890G>A
ENST00000660292.2:c.11858G>A	ENSP00000499787.2:p.Gly3953Asp
XM_006711802.2:c.11891G>A	XP_006711865.1:p.Gly3964Asp
XM_006711802.3:c.11891G>A	XP_006711865.1:p.Gly3964Asp
XM_006711803.2:c.11888G>A	XP_006711866.1:p.Gly3963Asp
XM_006711803.3:c.11888G>A	XP_006711866.1:p.Gly3963Asp
XM_006711804.2:c.11867G>A	XP_006711867.1:p.Gly3956Asp
XM_006711804.3:c.11867G>A	XP_006711867.1:p.Gly3956Asp
XM_006711805.2:c.11861G>A	XP_006711868.1:p.Gly3954Asp
XM_006711805.3:c.11861G>A	XP_006711868.1:p.Gly3954Asp
XM_006711806.2:c.11855G>A	XP_006711869.1:p.Gly3952Asp
XM_006711806.3:c.11855G>A	XP_006711869.1:p.Gly3952Asp
XM_006711807.2:c.11831G>A	XP_006711870.1:p.Gly3944Asp
XM_006711807.3:c.11831G>A	XP_006711870.1:p.Gly3944Asp
XM_006711808.2:c.11654G>A	XP_006711871.1:p.Gly3885Asp
XM_006711808.3:c.11654G>A	XP_006711871.1:p.Gly3885Asp
XM_006711810.2:c.11798G>A	XP_006711873.1:p.Gly3933Asp
XM_006711810.3:c.11798G>A	XP_006711873.1:p.Gly3933Asp
XM_017002028.1:c.11870G>A	XP_016857517.1:p.Gly3957Asp