Canonical Allele Identifier: CA345414501

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784577A>G , CM000663.2:g.237784577A>G	GRCh38
NC_000001.10:g.237947877A>G , CM000663.1:g.237947877A>G	GRCh37
NC_000001.9:g.236014500A>G	NCBI36
NG_008799.2:g.747176A>G
NG_008799.3:g.747394A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.12865A>G MANE Select	NP_001026.2:p.Ser4289Gly
ENST00000366574.7:c.12865A>G MANE Select	ENSP00000355533.2:p.Ser4289Gly
NM_001035.2:c.12865A>G	NP_001026.2:p.Ser4289Gly
ENST00000360064.7:c.12817A>G	ENSP00000353174.7:p.Ser4273Gly
ENST00000366574.6:c.12865A>G	ENSP00000355533.2:p.Ser4289Gly
ENST00000609119.1:n.4060A>G
ENST00000609119.2:c.*3957A>G	ENSP00000499659.2:n.*3957A>G
ENST00000659194.1:c.5042A>G
ENST00000659194.2:c.5042A>G
ENST00000659194.3:c.12853A>G	ENSP00000499653.3:p.Ser4285Gly
ENST00000660292.1:c.2918A>G
ENST00000660292.2:c.12886A>G	ENSP00000499787.2:p.Ser4296Gly
XM_006711802.2:c.12919A>G	XP_006711865.1:p.Ser4307Gly
XM_006711802.3:c.12919A>G	XP_006711865.1:p.Ser4307Gly
XM_006711803.2:c.12916A>G	XP_006711866.1:p.Ser4306Gly
XM_006711803.3:c.12916A>G	XP_006711866.1:p.Ser4306Gly
XM_006711804.2:c.12895A>G	XP_006711867.1:p.Ser4299Gly
XM_006711804.3:c.12895A>G	XP_006711867.1:p.Ser4299Gly
XM_006711805.2:c.12889A>G	XP_006711868.1:p.Ser4297Gly
XM_006711805.3:c.12889A>G	XP_006711868.1:p.Ser4297Gly
XM_006711806.2:c.12883A>G	XP_006711869.1:p.Ser4295Gly
XM_006711806.3:c.12883A>G	XP_006711869.1:p.Ser4295Gly
XM_006711807.2:c.12859A>G	XP_006711870.1:p.Ser4287Gly
XM_006711807.3:c.12859A>G	XP_006711870.1:p.Ser4287Gly
XM_006711808.2:c.12682A>G	XP_006711871.1:p.Ser4228Gly
XM_006711808.3:c.12682A>G	XP_006711871.1:p.Ser4228Gly
XM_006711810.2:c.12826A>G	XP_006711873.1:p.Ser4276Gly
XM_006711810.3:c.12826A>G	XP_006711873.1:p.Ser4276Gly
XM_017002028.1:c.12898A>G	XP_016857517.1:p.Ser4300Gly