Canonical Allele Identifier: CA424051783

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237819077A>T , CM000663.2:g.237819077A>T	GRCh38
NC_000001.10:g.237982377A>T , CM000663.1:g.237982377A>T	GRCh37
NC_000001.9:g.236049000A>T	NCBI36
NG_008799.2:g.781676A>T
NG_008799.3:g.781894A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.14475A>T MANE Select	NP_001026.2:p.Gly4825=
ENST00000366574.7:c.14475A>T MANE Select	ENSP00000355533.2:p.Gly4825=
NM_001035.2:c.14475A>T	NP_001026.2:p.Gly4825=
ENST00000360064.7:c.14424A>T	ENSP00000353174.7:p.Gly4808=
ENST00000366574.6:c.14475A>T	ENSP00000355533.2:p.Gly4825=
ENST00000608590.5:n.986A>T
ENST00000609119.2:c.*5567A>T	ENSP00000499659.2:n.*5567A>T
ENST00000659194.2:c.6646A>T
ENST00000659194.3:c.14457A>T	ENSP00000499653.3:p.Gly4819=
ENST00000660292.2:c.14496A>T	ENSP00000499787.2:p.Gly4832=
XM_006711802.2:c.14529A>T	XP_006711865.1:p.Gly4843=
XM_006711802.3:c.14529A>T	XP_006711865.1:p.Gly4843=
XM_006711803.2:c.14526A>T	XP_006711866.1:p.Gly4842=
XM_006711803.3:c.14526A>T	XP_006711866.1:p.Gly4842=
XM_006711804.2:c.14505A>T	XP_006711867.1:p.Gly4835=
XM_006711804.3:c.14505A>T	XP_006711867.1:p.Gly4835=
XM_006711805.2:c.14499A>T	XP_006711868.1:p.Gly4833=
XM_006711805.3:c.14499A>T	XP_006711868.1:p.Gly4833=
XM_006711806.2:c.14493A>T	XP_006711869.1:p.Gly4831=
XM_006711806.3:c.14493A>T	XP_006711869.1:p.Gly4831=
XM_006711807.2:c.14469A>T	XP_006711870.1:p.Gly4823=
XM_006711807.3:c.14469A>T	XP_006711870.1:p.Gly4823=
XM_006711808.2:c.14292A>T	XP_006711871.1:p.Gly4764=
XM_006711808.3:c.14292A>T	XP_006711871.1:p.Gly4764=
XM_006711810.2:c.14436A>T	XP_006711873.1:p.Gly4812=
XM_006711810.3:c.14436A>T	XP_006711873.1:p.Gly4812=
XM_017002028.1:c.14508A>T	XP_016857517.1:p.Gly4836=