Canonical Allele Identifier: CA2487418005

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237627980G= , CM000663.2:g.237627980G=	GRCh38
NC_000001.10:g.237791280G= , CM000663.1:g.237791280G=	GRCh37
NC_000001.9:g.235857903G=	NCBI36
NG_008799.2:g.590579G=
NG_008799.3:g.590797G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.6340G=	ENSP00000499659.2:p.Glu2114=
ENST00000659194.3:c.6340G=	ENSP00000499653.3:p.Glu2114=
ENST00000660292.2:c.6340G=	ENSP00000499787.2:p.Glu2114=
ENST00000366574.7:c.6340G= MANE Select	ENSP00000355533.2:p.Glu2114=
ENST00000360064.7:c.6292G=	ENSP00000353174.7:p.Glu2098=
ENST00000366574.6:c.6340G=	ENSP00000355533.2:p.Glu2114=
NM_001035.2:c.6340G=	NP_001026.2:p.Glu2114=
XM_006711802.2:c.6370G=	XP_006711865.1:p.Glu2124=
XM_006711803.2:c.6367G=	XP_006711866.1:p.Glu2123=
XM_006711804.2:c.6370G=	XP_006711867.1:p.Glu2124=
XM_006711805.2:c.6340G=	XP_006711868.1:p.Glu2114=
XM_006711806.2:c.6370G=	XP_006711869.1:p.Glu2124=
XM_006711807.2:c.6370G=	XP_006711870.1:p.Glu2124=
XM_006711808.2:c.6370G=	XP_006711871.1:p.Glu2124=
XM_006711809.2:c.6370G=	XP_006711872.1:p.Glu2124=
XM_006711810.2:c.6337G=	XP_006711873.1:p.Glu2113=
XR_949152.1:n.6651G=
XM_006711802.3:c.6370G=	XP_006711865.1:p.Glu2124=
XM_006711803.3:c.6367G=	XP_006711866.1:p.Glu2123=
XM_006711804.3:c.6370G=	XP_006711867.1:p.Glu2124=
XM_006711805.3:c.6340G=	XP_006711868.1:p.Glu2114=
XM_006711806.3:c.6370G=	XP_006711869.1:p.Glu2124=
XM_006711807.3:c.6370G=	XP_006711870.1:p.Glu2124=
XM_006711808.3:c.6370G=	XP_006711871.1:p.Glu2124=
XM_006711810.3:c.6337G=	XP_006711873.1:p.Glu2113=
XM_017002028.1:c.6349G=	XP_016857517.1:p.Glu2117=
XR_002957299.1:n.6684G=
XR_949152.2:n.6684G=
NM_001035.3:c.6340G= MANE Select	NP_001026.2:p.Glu2114=