Canonical Allele Identifier: CA085303

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784887A>G , CM000663.2:g.237784887A>G	GRCh38
NC_000001.10:g.237948187A>G , CM000663.1:g.237948187A>G	GRCh37
NC_000001.9:g.236014810A>G	NCBI36
NG_008799.2:g.747486A>G
NG_008799.3:g.747704A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.13175A>G MANE Select	NP_001026.2:p.Lys4392Arg
ENST00000366574.7:c.13175A>G MANE Select	ENSP00000355533.2:p.Lys4392Arg
NM_001035.2:c.13175A>G	NP_001026.2:p.Lys4392Arg
ENST00000360064.7:c.13127A>G	ENSP00000353174.7:p.Lys4376Arg
ENST00000366574.6:c.13175A>G	ENSP00000355533.2:p.Lys4392Arg
ENST00000609119.1:n.4370A>G
ENST00000609119.2:c.*4267A>G	ENSP00000499659.2:n.*4267A>G
ENST00000659194.1:c.5352A>G
ENST00000659194.2:c.5352A>G
ENST00000659194.3:c.13163A>G	ENSP00000499653.3:p.Lys4388Arg
ENST00000660292.1:c.3228A>G
ENST00000660292.2:c.13196A>G	ENSP00000499787.2:p.Lys4399Arg
XM_006711802.2:c.13229A>G	XP_006711865.1:p.Lys4410Arg
XM_006711802.3:c.13229A>G	XP_006711865.1:p.Lys4410Arg
XM_006711803.2:c.13226A>G	XP_006711866.1:p.Lys4409Arg
XM_006711803.3:c.13226A>G	XP_006711866.1:p.Lys4409Arg
XM_006711804.2:c.13205A>G	XP_006711867.1:p.Lys4402Arg
XM_006711804.3:c.13205A>G	XP_006711867.1:p.Lys4402Arg
XM_006711805.2:c.13199A>G	XP_006711868.1:p.Lys4400Arg
XM_006711805.3:c.13199A>G	XP_006711868.1:p.Lys4400Arg
XM_006711806.2:c.13193A>G	XP_006711869.1:p.Lys4398Arg
XM_006711806.3:c.13193A>G	XP_006711869.1:p.Lys4398Arg
XM_006711807.2:c.13169A>G	XP_006711870.1:p.Lys4390Arg
XM_006711807.3:c.13169A>G	XP_006711870.1:p.Lys4390Arg
XM_006711808.2:c.12992A>G	XP_006711871.1:p.Lys4331Arg
XM_006711808.3:c.12992A>G	XP_006711871.1:p.Lys4331Arg
XM_006711810.2:c.13136A>G	XP_006711873.1:p.Lys4379Arg
XM_006711810.3:c.13136A>G	XP_006711873.1:p.Lys4379Arg
XM_017002028.1:c.13208A>G	XP_016857517.1:p.Lys4403Arg