Canonical Allele Identifier: CA008466

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237832628A>G , CM000663.2:g.237832628A>G	GRCh38
NC_000001.10:g.237995928A>G , CM000663.1:g.237995928A>G	GRCh37
NC_000001.9:g.236062551A>G	NCBI36
NG_008799.2:g.795227A>G
NG_008799.3:g.795445A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5977A>G	ENSP00000499659.2:n.*5977A>G
ENST00000659194.3:c.14867A>G	ENSP00000499653.3:p.Tyr4956Cys
ENST00000660292.2:c.14906A>G	ENSP00000499787.2:p.Tyr4969Cys
ENST00000659194.2:c.7056A>G
ENST00000366574.7:c.14885A>G MANE Select	ENSP00000355533.2:p.Tyr4962Cys
ENST00000360064.7:c.14834A>G	ENSP00000353174.7:p.Tyr4945Cys
ENST00000366574.6:c.14885A>G	ENSP00000355533.2:p.Tyr4962Cys
ENST00000462585.1:n.728A>G
ENST00000608590.5:n.1295A>G
NM_001035.2:c.14885A>G	NP_001026.2:p.Tyr4962Cys
XM_006711802.2:c.14939A>G	XP_006711865.1:p.Tyr4980Cys
XM_006711803.2:c.14936A>G	XP_006711866.1:p.Tyr4979Cys
XM_006711804.2:c.14915A>G	XP_006711867.1:p.Tyr4972Cys
XM_006711805.2:c.14909A>G	XP_006711868.1:p.Tyr4970Cys
XM_006711806.2:c.14903A>G	XP_006711869.1:p.Tyr4968Cys
XM_006711807.2:c.14879A>G	XP_006711870.1:p.Tyr4960Cys
XM_006711808.2:c.14702A>G	XP_006711871.1:p.Tyr4901Cys
XM_006711810.2:c.14846A>G	XP_006711873.1:p.Tyr4949Cys
XM_006711802.3:c.14939A>G	XP_006711865.1:p.Tyr4980Cys
XM_006711803.3:c.14936A>G	XP_006711866.1:p.Tyr4979Cys
XM_006711804.3:c.14915A>G	XP_006711867.1:p.Tyr4972Cys
XM_006711805.3:c.14909A>G	XP_006711868.1:p.Tyr4970Cys
XM_006711806.3:c.14903A>G	XP_006711869.1:p.Tyr4968Cys
XM_006711807.3:c.14879A>G	XP_006711870.1:p.Tyr4960Cys
XM_006711808.3:c.14702A>G	XP_006711871.1:p.Tyr4901Cys
XM_006711810.3:c.14846A>G	XP_006711873.1:p.Tyr4949Cys
XM_017002028.1:c.14918A>G	XP_016857517.1:p.Tyr4973Cys
NM_001035.3:c.14885A>G MANE Select	NP_001026.2:p.Tyr4962Cys