Canonical Allele Identifier: CA345409992

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237831564A>G , CM000663.2:g.237831564A>G	GRCh38
NC_000001.10:g.237994864A>G , CM000663.1:g.237994864A>G	GRCh37
NC_000001.9:g.236061487A>G	NCBI36
NG_008799.2:g.794163A>G
NG_008799.3:g.794381A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.14807A>G MANE Select	NP_001026.2:p.Gln4936Arg
ENST00000366574.7:c.14807A>G MANE Select	ENSP00000355533.2:p.Gln4936Arg
NM_001035.2:c.14807A>G	NP_001026.2:p.Gln4936Arg
ENST00000360064.7:c.14756A>G	ENSP00000353174.7:p.Gln4919Arg
ENST00000366574.6:c.14807A>G	ENSP00000355533.2:p.Gln4936Arg
ENST00000462585.1:n.650A>G
ENST00000608590.5:n.1217A>G
ENST00000609119.2:c.*5899A>G	ENSP00000499659.2:n.*5899A>G
ENST00000659194.2:c.6978A>G
ENST00000659194.3:c.14789A>G	ENSP00000499653.3:p.Gln4930Arg
ENST00000660292.2:c.14828A>G	ENSP00000499787.2:p.Gln4943Arg
XM_006711802.2:c.14861A>G	XP_006711865.1:p.Gln4954Arg
XM_006711802.3:c.14861A>G	XP_006711865.1:p.Gln4954Arg
XM_006711803.2:c.14858A>G	XP_006711866.1:p.Gln4953Arg
XM_006711803.3:c.14858A>G	XP_006711866.1:p.Gln4953Arg
XM_006711804.2:c.14837A>G	XP_006711867.1:p.Gln4946Arg
XM_006711804.3:c.14837A>G	XP_006711867.1:p.Gln4946Arg
XM_006711805.2:c.14831A>G	XP_006711868.1:p.Gln4944Arg
XM_006711805.3:c.14831A>G	XP_006711868.1:p.Gln4944Arg
XM_006711806.2:c.14825A>G	XP_006711869.1:p.Gln4942Arg
XM_006711806.3:c.14825A>G	XP_006711869.1:p.Gln4942Arg
XM_006711807.2:c.14801A>G	XP_006711870.1:p.Gln4934Arg
XM_006711807.3:c.14801A>G	XP_006711870.1:p.Gln4934Arg
XM_006711808.2:c.14624A>G	XP_006711871.1:p.Gln4875Arg
XM_006711808.3:c.14624A>G	XP_006711871.1:p.Gln4875Arg
XM_006711810.2:c.14768A>G	XP_006711873.1:p.Gln4923Arg
XM_006711810.3:c.14768A>G	XP_006711873.1:p.Gln4923Arg
XM_017002028.1:c.14840A>G	XP_016857517.1:p.Gln4947Arg