Canonical Allele Identifier: CA087731

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237674832A>G , CM000663.2:g.237674832A>G	GRCh38
NC_000001.10:g.237838132A>G , CM000663.1:g.237838132A>G	GRCh37
NC_000001.9:g.235904755A>G	NCBI36
NG_008799.2:g.637431A>G
NG_008799.3:g.637649A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.8816A>G MANE Select	NP_001026.2:p.Tyr2939Cys
ENST00000366574.7:c.8816A>G MANE Select	ENSP00000355533.2:p.Tyr2939Cys
NM_001035.2:c.8816A>G	NP_001026.2:p.Tyr2939Cys
ENST00000360064.7:c.8768A>G	ENSP00000353174.7:p.Tyr2923Cys
ENST00000366574.6:c.8816A>G	ENSP00000355533.2:p.Tyr2939Cys
ENST00000609119.1:n.69A>G
ENST00000609119.2:c.8816A>G	ENSP00000499659.2:p.Tyr2939Cys
ENST00000659194.1:c.1005A>G
ENST00000659194.2:c.1005A>G
ENST00000659194.3:c.8816A>G	ENSP00000499653.3:p.Tyr2939Cys
ENST00000660292.2:c.8816A>G	ENSP00000499787.2:p.Tyr2939Cys
XM_006711802.2:c.8846A>G	XP_006711865.1:p.Tyr2949Cys
XM_006711802.3:c.8846A>G	XP_006711865.1:p.Tyr2949Cys
XM_006711803.2:c.8843A>G	XP_006711866.1:p.Tyr2948Cys
XM_006711803.3:c.8843A>G	XP_006711866.1:p.Tyr2948Cys
XM_006711804.2:c.8846A>G	XP_006711867.1:p.Tyr2949Cys
XM_006711804.3:c.8846A>G	XP_006711867.1:p.Tyr2949Cys
XM_006711805.2:c.8816A>G	XP_006711868.1:p.Tyr2939Cys
XM_006711805.3:c.8816A>G	XP_006711868.1:p.Tyr2939Cys
XM_006711806.2:c.8846A>G	XP_006711869.1:p.Tyr2949Cys
XM_006711806.3:c.8846A>G	XP_006711869.1:p.Tyr2949Cys
XM_006711807.2:c.8846A>G	XP_006711870.1:p.Tyr2949Cys
XM_006711807.3:c.8846A>G	XP_006711870.1:p.Tyr2949Cys
XM_006711808.2:c.8846A>G	XP_006711871.1:p.Tyr2949Cys
XM_006711808.3:c.8846A>G	XP_006711871.1:p.Tyr2949Cys
XM_006711810.2:c.8813A>G	XP_006711873.1:p.Tyr2938Cys
XM_006711810.3:c.8813A>G	XP_006711873.1:p.Tyr2938Cys
XM_017002028.1:c.8825A>G	XP_016857517.1:p.Tyr2942Cys
XR_949152.1:n.9127A>G
XR_949152.2:n.9160A>G