Canonical Allele Identifier: CA345416005

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237786035G>A , CM000663.2:g.237786035G>A	GRCh38
NC_000001.10:g.237949335G>A , CM000663.1:g.237949335G>A	GRCh37
NC_000001.9:g.236015958G>A	NCBI36
NG_008799.2:g.748634G>A
NG_008799.3:g.748852G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.13327G>A MANE Select	NP_001026.2:p.Glu4443Lys
ENST00000366574.7:c.13327G>A MANE Select	ENSP00000355533.2:p.Glu4443Lys
NM_001035.2:c.13327G>A	NP_001026.2:p.Glu4443Lys
ENST00000360064.7:c.13243+1029G>A	ENSP00000353174.7:n.13243+1029G>A
ENST00000366574.6:c.13327G>A	ENSP00000355533.2:p.Glu4443Lys
ENST00000609119.1:n.4522G>A
ENST00000609119.2:c.*4419G>A	ENSP00000499659.2:n.*4419G>A
ENST00000659194.2:c.5498G>A
ENST00000659194.3:c.13309G>A	ENSP00000499653.3:p.Glu4437Lys
ENST00000660292.1:c.3380G>A
ENST00000660292.2:c.13348G>A	ENSP00000499787.2:p.Glu4450Lys
XM_006711802.2:c.13381G>A	XP_006711865.1:p.Glu4461Lys
XM_006711802.3:c.13381G>A	XP_006711865.1:p.Glu4461Lys
XM_006711803.2:c.13378G>A	XP_006711866.1:p.Glu4460Lys
XM_006711803.3:c.13378G>A	XP_006711866.1:p.Glu4460Lys
XM_006711804.2:c.13357G>A	XP_006711867.1:p.Glu4453Lys
XM_006711804.3:c.13357G>A	XP_006711867.1:p.Glu4453Lys
XM_006711805.2:c.13351G>A	XP_006711868.1:p.Glu4451Lys
XM_006711805.3:c.13351G>A	XP_006711868.1:p.Glu4451Lys
XM_006711806.2:c.13345G>A	XP_006711869.1:p.Glu4449Lys
XM_006711806.3:c.13345G>A	XP_006711869.1:p.Glu4449Lys
XM_006711807.2:c.13321G>A	XP_006711870.1:p.Glu4441Lys
XM_006711807.3:c.13321G>A	XP_006711870.1:p.Glu4441Lys
XM_006711808.2:c.13144G>A	XP_006711871.1:p.Glu4382Lys
XM_006711808.3:c.13144G>A	XP_006711871.1:p.Glu4382Lys
XM_006711810.2:c.13288G>A	XP_006711873.1:p.Glu4430Lys
XM_006711810.3:c.13288G>A	XP_006711873.1:p.Glu4430Lys
XM_017002028.1:c.13360G>A	XP_016857517.1:p.Glu4454Lys