Canonical Allele Identifier: CA084368

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237718484G>A , CM000663.2:g.237718484G>A	GRCh38
NC_000001.10:g.237881784G>A , CM000663.1:g.237881784G>A	GRCh37
NC_000001.9:g.235948407G>A	NCBI36
NG_008799.2:g.681083G>A
NG_008799.3:g.681301G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*1552G>A	ENSP00000499659.2:n.*1552G>A
ENST00000659194.3:c.10517G>A	ENSP00000499653.3:p.Arg3506Gln
ENST00000660292.2:c.10517G>A	ENSP00000499787.2:p.Arg3506Gln
ENST00000659194.2:c.2706G>A
ENST00000366574.7:c.10517G>A MANE Select	ENSP00000355533.2:p.Arg3506Gln
ENST00000659194.1:c.2706G>A
ENST00000660292.1:c.549G>A
ENST00000661330.1:c.324G>A
ENST00000360064.7:c.10469G>A	ENSP00000353174.7:p.Arg3490Gln
ENST00000366574.6:c.10517G>A	ENSP00000355533.2:p.Arg3506Gln
ENST00000609119.1:n.1655G>A
NM_001035.2:c.10517G>A	NP_001026.2:p.Arg3506Gln
XM_006711802.2:c.10547G>A	XP_006711865.1:p.Arg3516Gln
XM_006711803.2:c.10544G>A	XP_006711866.1:p.Arg3515Gln
XM_006711804.2:c.10547G>A	XP_006711867.1:p.Arg3516Gln
XM_006711805.2:c.10517G>A	XP_006711868.1:p.Arg3506Gln
XM_006711806.2:c.10547G>A	XP_006711869.1:p.Arg3516Gln
XM_006711807.2:c.10547G>A	XP_006711870.1:p.Arg3516Gln
XM_006711808.2:c.10310G>A	XP_006711871.1:p.Arg3437Gln
XM_006711810.2:c.10514G>A	XP_006711873.1:p.Arg3505Gln
XM_006711802.3:c.10547G>A	XP_006711865.1:p.Arg3516Gln
XM_006711803.3:c.10544G>A	XP_006711866.1:p.Arg3515Gln
XM_006711804.3:c.10547G>A	XP_006711867.1:p.Arg3516Gln
XM_006711805.3:c.10517G>A	XP_006711868.1:p.Arg3506Gln
XM_006711806.3:c.10547G>A	XP_006711869.1:p.Arg3516Gln
XM_006711807.3:c.10547G>A	XP_006711870.1:p.Arg3516Gln
XM_006711808.3:c.10310G>A	XP_006711871.1:p.Arg3437Gln
XM_006711810.3:c.10514G>A	XP_006711873.1:p.Arg3505Gln
XM_017002028.1:c.10526G>A	XP_016857517.1:p.Arg3509Gln
NM_001035.3:c.10517G>A MANE Select	NP_001026.2:p.Arg3506Gln