Canonical Allele Identifier: CA2487482434

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784230T= , CM000663.2:g.237784230T=	GRCh38
NC_000001.10:g.237947530T= , CM000663.1:g.237947530T=	GRCh37
NC_000001.9:g.236014153T=	NCBI36
NG_008799.2:g.746829T=
NG_008799.3:g.747047T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3610T=	ENSP00000499659.2:n.*3610T=
ENST00000659194.3:c.12506T=	ENSP00000499653.3:p.Ile4169=
ENST00000660292.2:c.12539T=	ENSP00000499787.2:p.Ile4180=
ENST00000659194.2:c.4695T=
ENST00000366574.7:c.12518T= MANE Select	ENSP00000355533.2:p.Ile4173=
ENST00000659194.1:c.4695T=
ENST00000660292.1:c.2571T=
ENST00000360064.7:c.12470T=	ENSP00000353174.7:p.Ile4157=
ENST00000366574.6:c.12518T=	ENSP00000355533.2:p.Ile4173=
ENST00000609119.1:n.3713T=
NM_001035.2:c.12518T=	NP_001026.2:p.Ile4173=
XM_006711802.2:c.12572T=	XP_006711865.1:p.Ile4191=
XM_006711803.2:c.12569T=	XP_006711866.1:p.Ile4190=
XM_006711804.2:c.12548T=	XP_006711867.1:p.Ile4183=
XM_006711805.2:c.12542T=	XP_006711868.1:p.Ile4181=
XM_006711806.2:c.12536T=	XP_006711869.1:p.Ile4179=
XM_006711807.2:c.12512T=	XP_006711870.1:p.Ile4171=
XM_006711808.2:c.12335T=	XP_006711871.1:p.Ile4112=
XM_006711810.2:c.12479T=	XP_006711873.1:p.Ile4160=
XM_006711802.3:c.12572T=	XP_006711865.1:p.Ile4191=
XM_006711803.3:c.12569T=	XP_006711866.1:p.Ile4190=
XM_006711804.3:c.12548T=	XP_006711867.1:p.Ile4183=
XM_006711805.3:c.12542T=	XP_006711868.1:p.Ile4181=
XM_006711806.3:c.12536T=	XP_006711869.1:p.Ile4179=
XM_006711807.3:c.12512T=	XP_006711870.1:p.Ile4171=
XM_006711808.3:c.12335T=	XP_006711871.1:p.Ile4112=
XM_006711810.3:c.12479T=	XP_006711873.1:p.Ile4160=
XM_017002028.1:c.12551T=	XP_016857517.1:p.Ile4184=
NM_001035.3:c.12518T= MANE Select	NP_001026.2:p.Ile4173=