Canonical Allele Identifier: CA2487480111

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237778702A= , CM000663.2:g.237778702A=	GRCh38
NC_000001.10:g.237942002A= , CM000663.1:g.237942002A=	GRCh37
NC_000001.9:g.236008625A=	NCBI36
NG_008799.2:g.741301A=
NG_008799.3:g.741519A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2904A=	ENSP00000499659.2:n.*2904A=
ENST00000659194.3:c.11800A=	ENSP00000499653.3:p.Ser3934=
ENST00000660292.2:c.11833A=	ENSP00000499787.2:p.Ser3945=
ENST00000659194.2:c.3989A=
ENST00000366574.7:c.11812A= MANE Select	ENSP00000355533.2:p.Ser3938=
ENST00000659194.1:c.3989A=
ENST00000660292.1:c.1865A=
ENST00000360064.7:c.11764A=	ENSP00000353174.7:p.Ser3922=
ENST00000366574.6:c.11812A=	ENSP00000355533.2:p.Ser3938=
ENST00000609119.1:n.3007A=
NM_001035.2:c.11812A=	NP_001026.2:p.Ser3938=
XM_006711802.2:c.11866A=	XP_006711865.1:p.Ser3956=
XM_006711803.2:c.11863A=	XP_006711866.1:p.Ser3955=
XM_006711804.2:c.11842A=	XP_006711867.1:p.Ser3948=
XM_006711805.2:c.11836A=	XP_006711868.1:p.Ser3946=
XM_006711806.2:c.11830A=	XP_006711869.1:p.Ser3944=
XM_006711807.2:c.11806A=	XP_006711870.1:p.Ser3936=
XM_006711808.2:c.11629A=	XP_006711871.1:p.Ser3877=
XM_006711810.2:c.11773A=	XP_006711873.1:p.Ser3925=
XM_006711802.3:c.11866A=	XP_006711865.1:p.Ser3956=
XM_006711803.3:c.11863A=	XP_006711866.1:p.Ser3955=
XM_006711804.3:c.11842A=	XP_006711867.1:p.Ser3948=
XM_006711805.3:c.11836A=	XP_006711868.1:p.Ser3946=
XM_006711806.3:c.11830A=	XP_006711869.1:p.Ser3944=
XM_006711807.3:c.11806A=	XP_006711870.1:p.Ser3936=
XM_006711808.3:c.11629A=	XP_006711871.1:p.Ser3877=
XM_006711810.3:c.11773A=	XP_006711873.1:p.Ser3925=
XM_017002028.1:c.11845A=	XP_016857517.1:p.Ser3949=
NM_001035.3:c.11812A= MANE Select	NP_001026.2:p.Ser3938=