Canonical Allele Identifier: CA345430038

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237760996A>G , CM000663.2:g.237760996A>G	GRCh38
NC_000001.10:g.237924296A>G , CM000663.1:g.237924296A>G	GRCh37
NC_000001.9:g.235990919A>G	NCBI36
NG_008799.2:g.723595A>G
NG_008799.3:g.723813A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.11444A>G MANE Select	NP_001026.2:p.Glu3815Gly
ENST00000366574.7:c.11444A>G MANE Select	ENSP00000355533.2:p.Glu3815Gly
NM_001035.2:c.11444A>G	NP_001026.2:p.Glu3815Gly
ENST00000360064.7:c.11396A>G	ENSP00000353174.7:p.Glu3799Gly
ENST00000366574.6:c.11444A>G	ENSP00000355533.2:p.Glu3815Gly
ENST00000609119.1:n.2639A>G
ENST00000609119.2:c.*2536A>G	ENSP00000499659.2:n.*2536A>G
ENST00000659194.1:c.3621A>G
ENST00000659194.2:c.3621A>G
ENST00000659194.3:c.11432A>G	ENSP00000499653.3:p.Glu3811Gly
ENST00000660292.1:c.1464A>G
ENST00000660292.2:c.11432A>G	ENSP00000499787.2:p.Glu3811Gly
XM_006711802.2:c.11498A>G	XP_006711865.1:p.Glu3833Gly
XM_006711802.3:c.11498A>G	XP_006711865.1:p.Glu3833Gly
XM_006711803.2:c.11495A>G	XP_006711866.1:p.Glu3832Gly
XM_006711803.3:c.11495A>G	XP_006711866.1:p.Glu3832Gly
XM_006711804.2:c.11474A>G	XP_006711867.1:p.Glu3825Gly
XM_006711804.3:c.11474A>G	XP_006711867.1:p.Glu3825Gly
XM_006711805.2:c.11468A>G	XP_006711868.1:p.Glu3823Gly
XM_006711805.3:c.11468A>G	XP_006711868.1:p.Glu3823Gly
XM_006711806.2:c.11462A>G	XP_006711869.1:p.Glu3821Gly
XM_006711806.3:c.11462A>G	XP_006711869.1:p.Glu3821Gly
XM_006711807.2:c.11438A>G	XP_006711870.1:p.Glu3813Gly
XM_006711807.3:c.11438A>G	XP_006711870.1:p.Glu3813Gly
XM_006711808.2:c.11261A>G	XP_006711871.1:p.Glu3754Gly
XM_006711808.3:c.11261A>G	XP_006711871.1:p.Glu3754Gly
XM_006711810.2:c.11405A>G	XP_006711873.1:p.Glu3802Gly
XM_006711810.3:c.11405A>G	XP_006711873.1:p.Glu3802Gly
XM_017002028.1:c.11477A>G	XP_016857517.1:p.Glu3826Gly