Canonical Allele Identifier: CA084958

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237760979G>A , CM000663.2:g.237760979G>A	GRCh38
NC_000001.10:g.237924279G>A , CM000663.1:g.237924279G>A	GRCh37
NC_000001.9:g.235990902G>A	NCBI36
NG_008799.2:g.723578G>A
NG_008799.3:g.723796G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.11427G>A MANE Select	NP_001026.2:p.Glu3809=
ENST00000366574.7:c.11427G>A MANE Select	ENSP00000355533.2:p.Glu3809=
NM_001035.2:c.11427G>A	NP_001026.2:p.Glu3809=
ENST00000360064.7:c.11379G>A	ENSP00000353174.7:p.Glu3793=
ENST00000366574.6:c.11427G>A	ENSP00000355533.2:p.Glu3809=
ENST00000609119.1:n.2622G>A
ENST00000609119.2:c.*2519G>A	ENSP00000499659.2:n.*2519G>A
ENST00000659194.1:c.3604G>A
ENST00000659194.2:c.3604G>A
ENST00000659194.3:c.11415G>A	ENSP00000499653.3:p.Glu3805=
ENST00000660292.1:c.1447G>A
ENST00000660292.2:c.11415G>A	ENSP00000499787.2:p.Glu3805=
XM_006711802.2:c.11481G>A	XP_006711865.1:p.Glu3827=
XM_006711802.3:c.11481G>A	XP_006711865.1:p.Glu3827=
XM_006711803.2:c.11478G>A	XP_006711866.1:p.Glu3826=
XM_006711803.3:c.11478G>A	XP_006711866.1:p.Glu3826=
XM_006711804.2:c.11457G>A	XP_006711867.1:p.Glu3819=
XM_006711804.3:c.11457G>A	XP_006711867.1:p.Glu3819=
XM_006711805.2:c.11451G>A	XP_006711868.1:p.Glu3817=
XM_006711805.3:c.11451G>A	XP_006711868.1:p.Glu3817=
XM_006711806.2:c.11445G>A	XP_006711869.1:p.Glu3815=
XM_006711806.3:c.11445G>A	XP_006711869.1:p.Glu3815=
XM_006711807.2:c.11421G>A	XP_006711870.1:p.Glu3807=
XM_006711807.3:c.11421G>A	XP_006711870.1:p.Glu3807=
XM_006711808.2:c.11244G>A	XP_006711871.1:p.Glu3748=
XM_006711808.3:c.11244G>A	XP_006711871.1:p.Glu3748=
XM_006711810.2:c.11388G>A	XP_006711873.1:p.Glu3796=
XM_006711810.3:c.11388G>A	XP_006711873.1:p.Glu3796=
XM_017002028.1:c.11460G>A	XP_016857517.1:p.Glu3820=