Canonical Allele Identifier: CA2487482411

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784167T= , CM000663.2:g.237784167T=	GRCh38
NC_000001.10:g.237947467T= , CM000663.1:g.237947467T=	GRCh37
NC_000001.9:g.236014090T=	NCBI36
NG_008799.2:g.746766T=
NG_008799.3:g.746984T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3547T=	ENSP00000499659.2:n.*3547T=
ENST00000659194.3:c.12443T=	ENSP00000499653.3:p.Ile4148=
ENST00000660292.2:c.12476T=	ENSP00000499787.2:p.Ile4159=
ENST00000659194.2:c.4632T=
ENST00000366574.7:c.12455T= MANE Select	ENSP00000355533.2:p.Ile4152=
ENST00000659194.1:c.4632T=
ENST00000660292.1:c.2508T=
ENST00000360064.7:c.12407T=	ENSP00000353174.7:p.Ile4136=
ENST00000366574.6:c.12455T=	ENSP00000355533.2:p.Ile4152=
ENST00000609119.1:n.3650T=
NM_001035.2:c.12455T=	NP_001026.2:p.Ile4152=
XM_006711802.2:c.12509T=	XP_006711865.1:p.Ile4170=
XM_006711803.2:c.12506T=	XP_006711866.1:p.Ile4169=
XM_006711804.2:c.12485T=	XP_006711867.1:p.Ile4162=
XM_006711805.2:c.12479T=	XP_006711868.1:p.Ile4160=
XM_006711806.2:c.12473T=	XP_006711869.1:p.Ile4158=
XM_006711807.2:c.12449T=	XP_006711870.1:p.Ile4150=
XM_006711808.2:c.12272T=	XP_006711871.1:p.Ile4091=
XM_006711810.2:c.12416T=	XP_006711873.1:p.Ile4139=
XM_006711802.3:c.12509T=	XP_006711865.1:p.Ile4170=
XM_006711803.3:c.12506T=	XP_006711866.1:p.Ile4169=
XM_006711804.3:c.12485T=	XP_006711867.1:p.Ile4162=
XM_006711805.3:c.12479T=	XP_006711868.1:p.Ile4160=
XM_006711806.3:c.12473T=	XP_006711869.1:p.Ile4158=
XM_006711807.3:c.12449T=	XP_006711870.1:p.Ile4150=
XM_006711808.3:c.12272T=	XP_006711871.1:p.Ile4091=
XM_006711810.3:c.12416T=	XP_006711873.1:p.Ile4139=
XM_017002028.1:c.12488T=	XP_016857517.1:p.Ile4163=
NM_001035.3:c.12455T= MANE Select	NP_001026.2:p.Ile4152=