Canonical Allele Identifier: CA2487439302

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237678100G= , CM000663.2:g.237678100G=	GRCh38
NC_000001.10:g.237841400G= , CM000663.1:g.237841400G=	GRCh37
NC_000001.9:g.235908023G=	NCBI36
NG_008799.2:g.640699G=
NG_008799.3:g.640917G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.8831-2356G=	ENSP00000499659.2:n.8831-2356G=
ENST00000659194.3:c.8883G=	ENSP00000499653.3:p.Lys2961=
ENST00000660292.2:c.8883G=	ENSP00000499787.2:p.Lys2961=
ENST00000659194.2:c.1072G=
ENST00000366574.7:c.8883G= MANE Select	ENSP00000355533.2:p.Lys2961=
ENST00000659194.1:c.1072G=
ENST00000360064.7:c.8835G=	ENSP00000353174.7:p.Lys2945=
ENST00000366574.6:c.8883G=	ENSP00000355533.2:p.Lys2961=
ENST00000609119.1:n.84-2356G=
NM_001035.2:c.8883G=	NP_001026.2:p.Lys2961=
XM_006711802.2:c.8913G=	XP_006711865.1:p.Lys2971=
XM_006711803.2:c.8910G=	XP_006711866.1:p.Lys2970=
XM_006711804.2:c.8913G=	XP_006711867.1:p.Lys2971=
XM_006711805.2:c.8883G=	XP_006711868.1:p.Lys2961=
XM_006711806.2:c.8913G=	XP_006711869.1:p.Lys2971=
XM_006711807.2:c.8913G=	XP_006711870.1:p.Lys2971=
XM_006711808.2:c.8860+3254G=	XP_006711871.1:n.8860+3254G=
XM_006711810.2:c.8880G=	XP_006711873.1:p.Lys2960=
XR_949152.1:n.9194G=
XM_006711802.3:c.8913G=	XP_006711865.1:p.Lys2971=
XM_006711803.3:c.8910G=	XP_006711866.1:p.Lys2970=
XM_006711804.3:c.8913G=	XP_006711867.1:p.Lys2971=
XM_006711805.3:c.8883G=	XP_006711868.1:p.Lys2961=
XM_006711806.3:c.8913G=	XP_006711869.1:p.Lys2971=
XM_006711807.3:c.8913G=	XP_006711870.1:p.Lys2971=
XM_006711808.3:c.8860+3254G=	XP_006711871.1:n.8860+3254G=
XM_006711810.3:c.8880G=	XP_006711873.1:p.Lys2960=
XM_017002028.1:c.8892G=	XP_016857517.1:p.Lys2964=
XR_949152.2:n.9227G=
NM_001035.3:c.8883G= MANE Select	NP_001026.2:p.Lys2961=