Canonical Allele Identifier: CA1140547554

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237678090A= , CM000663.2:g.237678090A=	GRCh38
NC_000001.10:g.237841390A= , CM000663.1:g.237841390A=	GRCh37
NC_000001.9:g.235908013A=	NCBI36
NG_008799.2:g.640689A=
NG_008799.3:g.640907A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.8831-2366A=	ENSP00000499659.2:n.8831-2366A=
ENST00000659194.3:c.8873A=	ENSP00000499653.3:p.Gln2958=
ENST00000660292.2:c.8873A=	ENSP00000499787.2:p.Gln2958=
ENST00000659194.2:c.1062A=
ENST00000366574.7:c.8873A= MANE Select	ENSP00000355533.2:p.Gln2958=
ENST00000659194.1:c.1062A=
ENST00000360064.7:c.8825A=	ENSP00000353174.7:p.Gln2942=
ENST00000366574.6:c.8873A=	ENSP00000355533.2:p.Gln2958=
ENST00000609119.1:n.84-2366A=
NM_001035.2:c.8873A=	NP_001026.2:p.Gln2958=
XM_006711802.2:c.8903A=	XP_006711865.1:p.Gln2968=
XM_006711803.2:c.8900A=	XP_006711866.1:p.Gln2967=
XM_006711804.2:c.8903A=	XP_006711867.1:p.Gln2968=
XM_006711805.2:c.8873A=	XP_006711868.1:p.Gln2958=
XM_006711806.2:c.8903A=	XP_006711869.1:p.Gln2968=
XM_006711807.2:c.8903A=	XP_006711870.1:p.Gln2968=
XM_006711808.2:c.8860+3244A=	XP_006711871.1:n.8860+3244A=
XM_006711810.2:c.8870A=	XP_006711873.1:p.Gln2957=
XR_949152.1:n.9184A=
XM_006711802.3:c.8903A=	XP_006711865.1:p.Gln2968=
XM_006711803.3:c.8900A=	XP_006711866.1:p.Gln2967=
XM_006711804.3:c.8903A=	XP_006711867.1:p.Gln2968=
XM_006711805.3:c.8873A=	XP_006711868.1:p.Gln2958=
XM_006711806.3:c.8903A=	XP_006711869.1:p.Gln2968=
XM_006711807.3:c.8903A=	XP_006711870.1:p.Gln2968=
XM_006711808.3:c.8860+3244A=	XP_006711871.1:n.8860+3244A=
XM_006711810.3:c.8870A=	XP_006711873.1:p.Gln2957=
XM_017002028.1:c.8882A=	XP_016857517.1:p.Gln2961=
XR_949152.2:n.9217A=
NM_001035.3:c.8873A= MANE Select	NP_001026.2:p.Gln2958=