Canonical Allele Identifier: CA2487482412

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784169A= , CM000663.2:g.237784169A=	GRCh38
NC_000001.10:g.237947469A= , CM000663.1:g.237947469A=	GRCh37
NC_000001.9:g.236014092A=	NCBI36
NG_008799.2:g.746768A=
NG_008799.3:g.746986A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3549A=	ENSP00000499659.2:n.*3549A=
ENST00000659194.3:c.12445A=	ENSP00000499653.3:p.Ser4149=
ENST00000660292.2:c.12478A=	ENSP00000499787.2:p.Ser4160=
ENST00000659194.2:c.4634A=
ENST00000366574.7:c.12457A= MANE Select	ENSP00000355533.2:p.Ser4153=
ENST00000659194.1:c.4634A=
ENST00000660292.1:c.2510A=
ENST00000360064.7:c.12409A=	ENSP00000353174.7:p.Ser4137=
ENST00000366574.6:c.12457A=	ENSP00000355533.2:p.Ser4153=
ENST00000609119.1:n.3652A=
NM_001035.2:c.12457A=	NP_001026.2:p.Ser4153=
XM_006711802.2:c.12511A=	XP_006711865.1:p.Ser4171=
XM_006711803.2:c.12508A=	XP_006711866.1:p.Ser4170=
XM_006711804.2:c.12487A=	XP_006711867.1:p.Ser4163=
XM_006711805.2:c.12481A=	XP_006711868.1:p.Ser4161=
XM_006711806.2:c.12475A=	XP_006711869.1:p.Ser4159=
XM_006711807.2:c.12451A=	XP_006711870.1:p.Ser4151=
XM_006711808.2:c.12274A=	XP_006711871.1:p.Ser4092=
XM_006711810.2:c.12418A=	XP_006711873.1:p.Ser4140=
XM_006711802.3:c.12511A=	XP_006711865.1:p.Ser4171=
XM_006711803.3:c.12508A=	XP_006711866.1:p.Ser4170=
XM_006711804.3:c.12487A=	XP_006711867.1:p.Ser4163=
XM_006711805.3:c.12481A=	XP_006711868.1:p.Ser4161=
XM_006711806.3:c.12475A=	XP_006711869.1:p.Ser4159=
XM_006711807.3:c.12451A=	XP_006711870.1:p.Ser4151=
XM_006711808.3:c.12274A=	XP_006711871.1:p.Ser4092=
XM_006711810.3:c.12418A=	XP_006711873.1:p.Ser4140=
XM_017002028.1:c.12490A=	XP_016857517.1:p.Ser4164=
NM_001035.3:c.12457A= MANE Select	NP_001026.2:p.Ser4153=