Canonical Allele Identifier: CA2487493412

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809019G= , CM000663.2:g.237809019G=	GRCh38
NC_000001.10:g.237972319G= , CM000663.1:g.237972319G=	GRCh37
NC_000001.9:g.236038942G=	NCBI36
NG_008799.2:g.771618G=
NG_008799.3:g.771836G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5509G=	ENSP00000499659.2:n.*5509G=
ENST00000659194.3:c.14399G=	ENSP00000499653.3:p.Cys4800=
ENST00000660292.2:c.14438G=	ENSP00000499787.2:p.Cys4813=
ENST00000659194.2:c.6588G=
ENST00000366574.7:c.14417G= MANE Select	ENSP00000355533.2:p.Cys4806=
ENST00000360064.7:c.14366G=	ENSP00000353174.7:p.Cys4789=
ENST00000366574.6:c.14417G=	ENSP00000355533.2:p.Cys4806=
ENST00000608590.5:n.928G=
NM_001035.2:c.14417G=	NP_001026.2:p.Cys4806=
XM_006711802.2:c.14471G=	XP_006711865.1:p.Cys4824=
XM_006711803.2:c.14468G=	XP_006711866.1:p.Cys4823=
XM_006711804.2:c.14447G=	XP_006711867.1:p.Cys4816=
XM_006711805.2:c.14441G=	XP_006711868.1:p.Cys4814=
XM_006711806.2:c.14435G=	XP_006711869.1:p.Cys4812=
XM_006711807.2:c.14411G=	XP_006711870.1:p.Cys4804=
XM_006711808.2:c.14234G=	XP_006711871.1:p.Cys4745=
XM_006711810.2:c.14378G=	XP_006711873.1:p.Cys4793=
XM_006711802.3:c.14471G=	XP_006711865.1:p.Cys4824=
XM_006711803.3:c.14468G=	XP_006711866.1:p.Cys4823=
XM_006711804.3:c.14447G=	XP_006711867.1:p.Cys4816=
XM_006711805.3:c.14441G=	XP_006711868.1:p.Cys4814=
XM_006711806.3:c.14435G=	XP_006711869.1:p.Cys4812=
XM_006711807.3:c.14411G=	XP_006711870.1:p.Cys4804=
XM_006711808.3:c.14234G=	XP_006711871.1:p.Cys4745=
XM_006711810.3:c.14378G=	XP_006711873.1:p.Cys4793=
XM_017002028.1:c.14450G=	XP_016857517.1:p.Cys4817=
NM_001035.3:c.14417G= MANE Select	NP_001026.2:p.Cys4806=