Canonical Allele Identifier: CA085257

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784632G>A , CM000663.2:g.237784632G>A	GRCh38
NC_000001.10:g.237947932G>A , CM000663.1:g.237947932G>A	GRCh37
NC_000001.9:g.236014555G>A	NCBI36
NG_008799.2:g.747231G>A
NG_008799.3:g.747449G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.12920G>A MANE Select	NP_001026.2:p.Arg4307His
ENST00000366574.7:c.12920G>A MANE Select	ENSP00000355533.2:p.Arg4307His
NM_001035.2:c.12920G>A	NP_001026.2:p.Arg4307His
ENST00000360064.7:c.12872G>A	ENSP00000353174.7:p.Arg4291His
ENST00000366574.6:c.12920G>A	ENSP00000355533.2:p.Arg4307His
ENST00000609119.1:n.4115G>A
ENST00000609119.2:c.*4012G>A	ENSP00000499659.2:n.*4012G>A
ENST00000659194.1:c.5097G>A
ENST00000659194.2:c.5097G>A
ENST00000659194.3:c.12908G>A	ENSP00000499653.3:p.Arg4303His
ENST00000660292.1:c.2973G>A
ENST00000660292.2:c.12941G>A	ENSP00000499787.2:p.Arg4314His
XM_006711802.2:c.12974G>A	XP_006711865.1:p.Arg4325His
XM_006711802.3:c.12974G>A	XP_006711865.1:p.Arg4325His
XM_006711803.2:c.12971G>A	XP_006711866.1:p.Arg4324His
XM_006711803.3:c.12971G>A	XP_006711866.1:p.Arg4324His
XM_006711804.2:c.12950G>A	XP_006711867.1:p.Arg4317His
XM_006711804.3:c.12950G>A	XP_006711867.1:p.Arg4317His
XM_006711805.2:c.12944G>A	XP_006711868.1:p.Arg4315His
XM_006711805.3:c.12944G>A	XP_006711868.1:p.Arg4315His
XM_006711806.2:c.12938G>A	XP_006711869.1:p.Arg4313His
XM_006711806.3:c.12938G>A	XP_006711869.1:p.Arg4313His
XM_006711807.2:c.12914G>A	XP_006711870.1:p.Arg4305His
XM_006711807.3:c.12914G>A	XP_006711870.1:p.Arg4305His
XM_006711808.2:c.12737G>A	XP_006711871.1:p.Arg4246His
XM_006711808.3:c.12737G>A	XP_006711871.1:p.Arg4246His
XM_006711810.2:c.12881G>A	XP_006711873.1:p.Arg4294His
XM_006711810.3:c.12881G>A	XP_006711873.1:p.Arg4294His
XM_017002028.1:c.12953G>A	XP_016857517.1:p.Arg4318His