Canonical Allele Identifier: CA2487482429

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784211G= , CM000663.2:g.237784211G=	GRCh38
NC_000001.10:g.237947511G= , CM000663.1:g.237947511G=	GRCh37
NC_000001.9:g.236014134G=	NCBI36
NG_008799.2:g.746810G=
NG_008799.3:g.747028G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3591G=	ENSP00000499659.2:n.*3591G=
ENST00000659194.3:c.12487G=	ENSP00000499653.3:p.Glu4163=
ENST00000660292.2:c.12520G=	ENSP00000499787.2:p.Glu4174=
ENST00000659194.2:c.4676G=
ENST00000366574.7:c.12499G= MANE Select	ENSP00000355533.2:p.Glu4167=
ENST00000659194.1:c.4676G=
ENST00000660292.1:c.2552G=
ENST00000360064.7:c.12451G=	ENSP00000353174.7:p.Glu4151=
ENST00000366574.6:c.12499G=	ENSP00000355533.2:p.Glu4167=
ENST00000609119.1:n.3694G=
NM_001035.2:c.12499G=	NP_001026.2:p.Glu4167=
XM_006711802.2:c.12553G=	XP_006711865.1:p.Glu4185=
XM_006711803.2:c.12550G=	XP_006711866.1:p.Glu4184=
XM_006711804.2:c.12529G=	XP_006711867.1:p.Glu4177=
XM_006711805.2:c.12523G=	XP_006711868.1:p.Glu4175=
XM_006711806.2:c.12517G=	XP_006711869.1:p.Glu4173=
XM_006711807.2:c.12493G=	XP_006711870.1:p.Glu4165=
XM_006711808.2:c.12316G=	XP_006711871.1:p.Glu4106=
XM_006711810.2:c.12460G=	XP_006711873.1:p.Glu4154=
XM_006711802.3:c.12553G=	XP_006711865.1:p.Glu4185=
XM_006711803.3:c.12550G=	XP_006711866.1:p.Glu4184=
XM_006711804.3:c.12529G=	XP_006711867.1:p.Glu4177=
XM_006711805.3:c.12523G=	XP_006711868.1:p.Glu4175=
XM_006711806.3:c.12517G=	XP_006711869.1:p.Glu4173=
XM_006711807.3:c.12493G=	XP_006711870.1:p.Glu4165=
XM_006711808.3:c.12316G=	XP_006711871.1:p.Glu4106=
XM_006711810.3:c.12460G=	XP_006711873.1:p.Glu4154=
XM_017002028.1:c.12532G=	XP_016857517.1:p.Glu4178=
NM_001035.3:c.12499G= MANE Select	NP_001026.2:p.Glu4167=