Canonical Allele Identifier: CA345412527

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237783904A>T , CM000663.2:g.237783904A>T	GRCh38
NC_000001.10:g.237947204A>T , CM000663.1:g.237947204A>T	GRCh37
NC_000001.9:g.236013827A>T	NCBI36
NG_008799.2:g.746503A>T
NG_008799.3:g.746721A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.12192A>T MANE Select	NP_001026.2:p.Glu4064Asp
ENST00000366574.7:c.12192A>T MANE Select	ENSP00000355533.2:p.Glu4064Asp
NM_001035.2:c.12192A>T	NP_001026.2:p.Glu4064Asp
ENST00000360064.7:c.12144A>T	ENSP00000353174.7:p.Glu4048Asp
ENST00000366574.6:c.12192A>T	ENSP00000355533.2:p.Glu4064Asp
ENST00000609119.1:n.3387A>T
ENST00000609119.2:c.*3284A>T	ENSP00000499659.2:n.*3284A>T
ENST00000659194.1:c.4369A>T
ENST00000659194.2:c.4369A>T
ENST00000659194.3:c.12180A>T	ENSP00000499653.3:p.Glu4060Asp
ENST00000660292.1:c.2245A>T
ENST00000660292.2:c.12213A>T	ENSP00000499787.2:p.Glu4071Asp
XM_006711802.2:c.12246A>T	XP_006711865.1:p.Glu4082Asp
XM_006711802.3:c.12246A>T	XP_006711865.1:p.Glu4082Asp
XM_006711803.2:c.12243A>T	XP_006711866.1:p.Glu4081Asp
XM_006711803.3:c.12243A>T	XP_006711866.1:p.Glu4081Asp
XM_006711804.2:c.12222A>T	XP_006711867.1:p.Glu4074Asp
XM_006711804.3:c.12222A>T	XP_006711867.1:p.Glu4074Asp
XM_006711805.2:c.12216A>T	XP_006711868.1:p.Glu4072Asp
XM_006711805.3:c.12216A>T	XP_006711868.1:p.Glu4072Asp
XM_006711806.2:c.12210A>T	XP_006711869.1:p.Glu4070Asp
XM_006711806.3:c.12210A>T	XP_006711869.1:p.Glu4070Asp
XM_006711807.2:c.12186A>T	XP_006711870.1:p.Glu4062Asp
XM_006711807.3:c.12186A>T	XP_006711870.1:p.Glu4062Asp
XM_006711808.2:c.12009A>T	XP_006711871.1:p.Glu4003Asp
XM_006711808.3:c.12009A>T	XP_006711871.1:p.Glu4003Asp
XM_006711810.2:c.12153A>T	XP_006711873.1:p.Glu4051Asp
XM_006711810.3:c.12153A>T	XP_006711873.1:p.Glu4051Asp
XM_017002028.1:c.12225A>T	XP_016857517.1:p.Glu4075Asp