Canonical Allele Identifier: CA2487482346

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237783995G= , CM000663.2:g.237783995G=	GRCh38
NC_000001.10:g.237947295G= , CM000663.1:g.237947295G=	GRCh37
NC_000001.9:g.236013918G=	NCBI36
NG_008799.2:g.746594G=
NG_008799.3:g.746812G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3375G=	ENSP00000499659.2:n.*3375G=
ENST00000659194.3:c.12271G=	ENSP00000499653.3:p.Gly4091=
ENST00000660292.2:c.12304G=	ENSP00000499787.2:p.Gly4102=
ENST00000659194.2:c.4460G=
ENST00000366574.7:c.12283G= MANE Select	ENSP00000355533.2:p.Gly4095=
ENST00000659194.1:c.4460G=
ENST00000660292.1:c.2336G=
ENST00000360064.7:c.12235G=	ENSP00000353174.7:p.Gly4079=
ENST00000366574.6:c.12283G=	ENSP00000355533.2:p.Gly4095=
ENST00000609119.1:n.3478G=
NM_001035.2:c.12283G=	NP_001026.2:p.Gly4095=
XM_006711802.2:c.12337G=	XP_006711865.1:p.Gly4113=
XM_006711803.2:c.12334G=	XP_006711866.1:p.Gly4112=
XM_006711804.2:c.12313G=	XP_006711867.1:p.Gly4105=
XM_006711805.2:c.12307G=	XP_006711868.1:p.Gly4103=
XM_006711806.2:c.12301G=	XP_006711869.1:p.Gly4101=
XM_006711807.2:c.12277G=	XP_006711870.1:p.Gly4093=
XM_006711808.2:c.12100G=	XP_006711871.1:p.Gly4034=
XM_006711810.2:c.12244G=	XP_006711873.1:p.Gly4082=
XM_006711802.3:c.12337G=	XP_006711865.1:p.Gly4113=
XM_006711803.3:c.12334G=	XP_006711866.1:p.Gly4112=
XM_006711804.3:c.12313G=	XP_006711867.1:p.Gly4105=
XM_006711805.3:c.12307G=	XP_006711868.1:p.Gly4103=
XM_006711806.3:c.12301G=	XP_006711869.1:p.Gly4101=
XM_006711807.3:c.12277G=	XP_006711870.1:p.Gly4093=
XM_006711808.3:c.12100G=	XP_006711871.1:p.Gly4034=
XM_006711810.3:c.12244G=	XP_006711873.1:p.Gly4082=
XM_017002028.1:c.12316G=	XP_016857517.1:p.Gly4106=
NM_001035.3:c.12283G= MANE Select	NP_001026.2:p.Gly4095=