Canonical Allele Identifier: CA2487482423

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784189G= , CM000663.2:g.237784189G=	GRCh38
NC_000001.10:g.237947489G= , CM000663.1:g.237947489G=	GRCh37
NC_000001.9:g.236014112G=	NCBI36
NG_008799.2:g.746788G=
NG_008799.3:g.747006G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3569G=	ENSP00000499659.2:n.*3569G=
ENST00000659194.3:c.12465G=	ENSP00000499653.3:p.Gln4155=
ENST00000660292.2:c.12498G=	ENSP00000499787.2:p.Gln4166=
ENST00000659194.2:c.4654G=
ENST00000366574.7:c.12477G= MANE Select	ENSP00000355533.2:p.Gln4159=
ENST00000659194.1:c.4654G=
ENST00000660292.1:c.2530G=
ENST00000360064.7:c.12429G=	ENSP00000353174.7:p.Gln4143=
ENST00000366574.6:c.12477G=	ENSP00000355533.2:p.Gln4159=
ENST00000609119.1:n.3672G=
NM_001035.2:c.12477G=	NP_001026.2:p.Gln4159=
XM_006711802.2:c.12531G=	XP_006711865.1:p.Gln4177=
XM_006711803.2:c.12528G=	XP_006711866.1:p.Gln4176=
XM_006711804.2:c.12507G=	XP_006711867.1:p.Gln4169=
XM_006711805.2:c.12501G=	XP_006711868.1:p.Gln4167=
XM_006711806.2:c.12495G=	XP_006711869.1:p.Gln4165=
XM_006711807.2:c.12471G=	XP_006711870.1:p.Gln4157=
XM_006711808.2:c.12294G=	XP_006711871.1:p.Gln4098=
XM_006711810.2:c.12438G=	XP_006711873.1:p.Gln4146=
XM_006711802.3:c.12531G=	XP_006711865.1:p.Gln4177=
XM_006711803.3:c.12528G=	XP_006711866.1:p.Gln4176=
XM_006711804.3:c.12507G=	XP_006711867.1:p.Gln4169=
XM_006711805.3:c.12501G=	XP_006711868.1:p.Gln4167=
XM_006711806.3:c.12495G=	XP_006711869.1:p.Gln4165=
XM_006711807.3:c.12471G=	XP_006711870.1:p.Gln4157=
XM_006711808.3:c.12294G=	XP_006711871.1:p.Gln4098=
XM_006711810.3:c.12438G=	XP_006711873.1:p.Gln4146=
XM_017002028.1:c.12510G=	XP_016857517.1:p.Gln4170=
NM_001035.3:c.12477G= MANE Select	NP_001026.2:p.Gln4159=