Canonical Allele Identifier: CA2487502566

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237830517C>A , CM000663.2:g.237830517C>A	GRCh38
NC_000001.10:g.237993817C>A , CM000663.1:g.237993817C>A	GRCh37
NC_000001.9:g.236060440C>A	NCBI36
NG_008799.2:g.793116C>A
NG_008799.3:g.793334C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.14656-13C>A MANE Select	NP_001026.2:n.14656-13C>A
ENST00000366574.7:c.14656-13C>A MANE Select	ENSP00000355533.2:n.14656-13C>A
NM_001035.2:c.14656-13C>A	NP_001026.2:n.14656-13C>A
ENST00000360064.7:c.14605-13C>A	ENSP00000353174.7:n.14605-13C>A
ENST00000366574.6:c.14656-13C>A	ENSP00000355533.2:n.14656-13C>A
ENST00000462585.1:n.486C>A
ENST00000608590.5:n.1167-997C>A
ENST00000609119.2:c.*5748-13C>A	ENSP00000499659.2:n.*5748-13C>A
ENST00000659194.2:c.6827-13C>A
ENST00000659194.3:c.14638-13C>A	ENSP00000499653.3:n.14638-13C>A
ENST00000660292.2:c.14677-13C>A	ENSP00000499787.2:n.14677-13C>A
XM_006711802.2:c.14710-13C>A	XP_006711865.1:n.14710-13C>A
XM_006711802.3:c.14710-13C>A	XP_006711865.1:n.14710-13C>A
XM_006711803.2:c.14707-13C>A	XP_006711866.1:n.14707-13C>A
XM_006711803.3:c.14707-13C>A	XP_006711866.1:n.14707-13C>A
XM_006711804.2:c.14686-13C>A	XP_006711867.1:n.14686-13C>A
XM_006711804.3:c.14686-13C>A	XP_006711867.1:n.14686-13C>A
XM_006711805.2:c.14680-13C>A	XP_006711868.1:n.14680-13C>A
XM_006711805.3:c.14680-13C>A	XP_006711868.1:n.14680-13C>A
XM_006711806.2:c.14674-13C>A	XP_006711869.1:n.14674-13C>A
XM_006711806.3:c.14674-13C>A	XP_006711869.1:n.14674-13C>A
XM_006711807.2:c.14650-13C>A	XP_006711870.1:n.14650-13C>A
XM_006711807.3:c.14650-13C>A	XP_006711870.1:n.14650-13C>A
XM_006711808.2:c.14473-13C>A	XP_006711871.1:n.14473-13C>A
XM_006711808.3:c.14473-13C>A	XP_006711871.1:n.14473-13C>A
XM_006711810.2:c.14617-13C>A	XP_006711873.1:n.14617-13C>A
XM_006711810.3:c.14617-13C>A	XP_006711873.1:n.14617-13C>A
XM_017002028.1:c.14689-13C>A	XP_016857517.1:n.14689-13C>A