Canonical Allele Identifier: CA085422

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237792145C>T , CM000663.2:g.237792145C>T	GRCh38
NC_000001.10:g.237955445C>T , CM000663.1:g.237955445C>T	GRCh37
NC_000001.9:g.236022068C>T	NCBI36
NG_008799.2:g.754744C>T
NG_008799.3:g.754962C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.13604C>T MANE Select	NP_001026.2:p.Thr4535Met
ENST00000366574.7:c.13604C>T MANE Select	ENSP00000355533.2:p.Thr4535Met
NM_001035.2:c.13604C>T	NP_001026.2:p.Thr4535Met
ENST00000360064.7:c.13553C>T	ENSP00000353174.7:p.Thr4518Met
ENST00000366574.6:c.13604C>T	ENSP00000355533.2:p.Thr4535Met
ENST00000608590.5:n.115C>T
ENST00000609119.2:c.*4696C>T	ENSP00000499659.2:n.*4696C>T
ENST00000659194.2:c.5775C>T
ENST00000659194.3:c.13586C>T	ENSP00000499653.3:p.Thr4529Met
ENST00000660292.1:c.3657C>T
ENST00000660292.2:c.13625C>T	ENSP00000499787.2:p.Thr4542Met
XM_006711802.2:c.13658C>T	XP_006711865.1:p.Thr4553Met
XM_006711802.3:c.13658C>T	XP_006711865.1:p.Thr4553Met
XM_006711803.2:c.13655C>T	XP_006711866.1:p.Thr4552Met
XM_006711803.3:c.13655C>T	XP_006711866.1:p.Thr4552Met
XM_006711804.2:c.13634C>T	XP_006711867.1:p.Thr4545Met
XM_006711804.3:c.13634C>T	XP_006711867.1:p.Thr4545Met
XM_006711805.2:c.13628C>T	XP_006711868.1:p.Thr4543Met
XM_006711805.3:c.13628C>T	XP_006711868.1:p.Thr4543Met
XM_006711806.2:c.13622C>T	XP_006711869.1:p.Thr4541Met
XM_006711806.3:c.13622C>T	XP_006711869.1:p.Thr4541Met
XM_006711807.2:c.13598C>T	XP_006711870.1:p.Thr4533Met
XM_006711807.3:c.13598C>T	XP_006711870.1:p.Thr4533Met
XM_006711808.2:c.13421C>T	XP_006711871.1:p.Thr4474Met
XM_006711808.3:c.13421C>T	XP_006711871.1:p.Thr4474Met
XM_006711810.2:c.13565C>T	XP_006711873.1:p.Thr4522Met
XM_006711810.3:c.13565C>T	XP_006711873.1:p.Thr4522Met
XM_017002028.1:c.13637C>T	XP_016857517.1:p.Thr4546Met