Canonical Allele Identifier: CA2487477021

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237770827G= , CM000663.2:g.237770827G=	GRCh38
NC_000001.10:g.237934127G= , CM000663.1:g.237934127G=	GRCh37
NC_000001.9:g.236000750G=	NCBI36
NG_008799.2:g.733426G=
NG_008799.3:g.733644G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*2589G=	ENSP00000499659.2:n.*2589G=
ENST00000659194.3:c.11485G=	ENSP00000499653.3:p.Asp3829=
ENST00000660292.2:c.11518G=	ENSP00000499787.2:p.Asp3840=
ENST00000659194.2:c.3674G=
ENST00000366574.7:c.11497G= MANE Select	ENSP00000355533.2:p.Asp3833=
ENST00000659194.1:c.3674G=
ENST00000660292.1:c.1550G=
ENST00000360064.7:c.11449G=	ENSP00000353174.7:p.Asp3817=
ENST00000366574.6:c.11497G=	ENSP00000355533.2:p.Asp3833=
ENST00000609119.1:n.2692G=
NM_001035.2:c.11497G=	NP_001026.2:p.Asp3833=
XM_006711802.2:c.11551G=	XP_006711865.1:p.Asp3851=
XM_006711803.2:c.11548G=	XP_006711866.1:p.Asp3850=
XM_006711804.2:c.11527G=	XP_006711867.1:p.Asp3843=
XM_006711805.2:c.11521G=	XP_006711868.1:p.Asp3841=
XM_006711806.2:c.11515G=	XP_006711869.1:p.Asp3839=
XM_006711807.2:c.11491G=	XP_006711870.1:p.Asp3831=
XM_006711808.2:c.11314G=	XP_006711871.1:p.Asp3772=
XM_006711810.2:c.11458G=	XP_006711873.1:p.Asp3820=
XM_006711802.3:c.11551G=	XP_006711865.1:p.Asp3851=
XM_006711803.3:c.11548G=	XP_006711866.1:p.Asp3850=
XM_006711804.3:c.11527G=	XP_006711867.1:p.Asp3843=
XM_006711805.3:c.11521G=	XP_006711868.1:p.Asp3841=
XM_006711806.3:c.11515G=	XP_006711869.1:p.Asp3839=
XM_006711807.3:c.11491G=	XP_006711870.1:p.Asp3831=
XM_006711808.3:c.11314G=	XP_006711871.1:p.Asp3772=
XM_006711810.3:c.11458G=	XP_006711873.1:p.Asp3820=
XM_017002028.1:c.11530G=	XP_016857517.1:p.Asp3844=
NM_001035.3:c.11497G= MANE Select	NP_001026.2:p.Asp3833=