Canonical Allele Identifier: CA345413806

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784350A>G , CM000663.2:g.237784350A>G	GRCh38
NC_000001.10:g.237947650A>G , CM000663.1:g.237947650A>G	GRCh37
NC_000001.9:g.236014273A>G	NCBI36
NG_008799.2:g.746949A>G
NG_008799.3:g.747167A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.12638A>G MANE Select	NP_001026.2:p.Glu4213Gly
ENST00000366574.7:c.12638A>G MANE Select	ENSP00000355533.2:p.Glu4213Gly
NM_001035.2:c.12638A>G	NP_001026.2:p.Glu4213Gly
ENST00000360064.7:c.12590A>G	ENSP00000353174.7:p.Glu4197Gly
ENST00000366574.6:c.12638A>G	ENSP00000355533.2:p.Glu4213Gly
ENST00000609119.1:n.3833A>G
ENST00000609119.2:c.*3730A>G	ENSP00000499659.2:n.*3730A>G
ENST00000659194.1:c.4815A>G
ENST00000659194.2:c.4815A>G
ENST00000659194.3:c.12626A>G	ENSP00000499653.3:p.Glu4209Gly
ENST00000660292.1:c.2691A>G
ENST00000660292.2:c.12659A>G	ENSP00000499787.2:p.Glu4220Gly
XM_006711802.2:c.12692A>G	XP_006711865.1:p.Glu4231Gly
XM_006711802.3:c.12692A>G	XP_006711865.1:p.Glu4231Gly
XM_006711803.2:c.12689A>G	XP_006711866.1:p.Glu4230Gly
XM_006711803.3:c.12689A>G	XP_006711866.1:p.Glu4230Gly
XM_006711804.2:c.12668A>G	XP_006711867.1:p.Glu4223Gly
XM_006711804.3:c.12668A>G	XP_006711867.1:p.Glu4223Gly
XM_006711805.2:c.12662A>G	XP_006711868.1:p.Glu4221Gly
XM_006711805.3:c.12662A>G	XP_006711868.1:p.Glu4221Gly
XM_006711806.2:c.12656A>G	XP_006711869.1:p.Glu4219Gly
XM_006711806.3:c.12656A>G	XP_006711869.1:p.Glu4219Gly
XM_006711807.2:c.12632A>G	XP_006711870.1:p.Glu4211Gly
XM_006711807.3:c.12632A>G	XP_006711870.1:p.Glu4211Gly
XM_006711808.2:c.12455A>G	XP_006711871.1:p.Glu4152Gly
XM_006711808.3:c.12455A>G	XP_006711871.1:p.Glu4152Gly
XM_006711810.2:c.12599A>G	XP_006711873.1:p.Glu4200Gly
XM_006711810.3:c.12599A>G	XP_006711873.1:p.Glu4200Gly
XM_017002028.1:c.12671A>G	XP_016857517.1:p.Glu4224Gly