Canonical Allele Identifier: CA2487503395

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237832592A= , CM000663.2:g.237832592A=	GRCh38
NC_000001.10:g.237995892A= , CM000663.1:g.237995892A=	GRCh37
NC_000001.9:g.236062515A=	NCBI36
NG_008799.2:g.795191A=
NG_008799.3:g.795409A=

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.14849A= MANE Select	NP_001026.2:p.Glu4950=
ENST00000366574.7:c.14849A= MANE Select	ENSP00000355533.2:p.Glu4950=
NM_001035.2:c.14849A=	NP_001026.2:p.Glu4950=
ENST00000360064.7:c.14798A=	ENSP00000353174.7:p.Glu4933=
ENST00000366574.6:c.14849A=	ENSP00000355533.2:p.Glu4950=
ENST00000462585.1:n.692A=
ENST00000608590.5:n.1259A=
ENST00000609119.2:c.*5941A=	ENSP00000499659.2:n.*5941A=
ENST00000659194.2:c.7020A=
ENST00000659194.3:c.14831A=	ENSP00000499653.3:p.Glu4944=
ENST00000660292.2:c.14870A=	ENSP00000499787.2:p.Glu4957=
XM_006711802.2:c.14903A=	XP_006711865.1:p.Glu4968=
XM_006711802.3:c.14903A=	XP_006711865.1:p.Glu4968=
XM_006711803.2:c.14900A=	XP_006711866.1:p.Glu4967=
XM_006711803.3:c.14900A=	XP_006711866.1:p.Glu4967=
XM_006711804.2:c.14879A=	XP_006711867.1:p.Glu4960=
XM_006711804.3:c.14879A=	XP_006711867.1:p.Glu4960=
XM_006711805.2:c.14873A=	XP_006711868.1:p.Glu4958=
XM_006711805.3:c.14873A=	XP_006711868.1:p.Glu4958=
XM_006711806.2:c.14867A=	XP_006711869.1:p.Glu4956=
XM_006711806.3:c.14867A=	XP_006711869.1:p.Glu4956=
XM_006711807.2:c.14843A=	XP_006711870.1:p.Glu4948=
XM_006711807.3:c.14843A=	XP_006711870.1:p.Glu4948=
XM_006711808.2:c.14666A=	XP_006711871.1:p.Glu4889=
XM_006711808.3:c.14666A=	XP_006711871.1:p.Glu4889=
XM_006711810.2:c.14810A=	XP_006711873.1:p.Glu4937=
XM_006711810.3:c.14810A=	XP_006711873.1:p.Glu4937=
XM_017002028.1:c.14882A=	XP_016857517.1:p.Glu4961=