Canonical Allele Identifier: CA084479

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237726292G>A , CM000663.2:g.237726292G>A	GRCh38
NC_000001.10:g.237889592G>A , CM000663.1:g.237889592G>A	GRCh37
NC_000001.9:g.235956215G>A	NCBI36
NG_008799.2:g.688891G>A
NG_008799.3:g.689109G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.10709G>A MANE Select	NP_001026.2:p.Arg3570Gln
ENST00000366574.7:c.10709G>A MANE Select	ENSP00000355533.2:p.Arg3570Gln
NM_001035.2:c.10709G>A	NP_001026.2:p.Arg3570Gln
ENST00000360064.7:c.10661G>A	ENSP00000353174.7:p.Arg3554Gln
ENST00000366574.6:c.10709G>A	ENSP00000355533.2:p.Arg3570Gln
ENST00000609119.1:n.1847G>A
ENST00000609119.2:c.*1744G>A	ENSP00000499659.2:n.*1744G>A
ENST00000609253.1:n.53-795G>A
ENST00000659194.1:c.2879-795G>A
ENST00000659194.2:c.2879-795G>A
ENST00000659194.3:c.10690-795G>A	ENSP00000499653.3:n.10690-795G>A
ENST00000660292.1:c.722-795G>A
ENST00000660292.2:c.10690-795G>A	ENSP00000499787.2:n.10690-795G>A
ENST00000661330.1:c.516G>A
XM_006711802.2:c.10739G>A	XP_006711865.1:p.Arg3580Gln
XM_006711802.3:c.10739G>A	XP_006711865.1:p.Arg3580Gln
XM_006711803.2:c.10736G>A	XP_006711866.1:p.Arg3579Gln
XM_006711803.3:c.10736G>A	XP_006711866.1:p.Arg3579Gln
XM_006711804.2:c.10739G>A	XP_006711867.1:p.Arg3580Gln
XM_006711804.3:c.10739G>A	XP_006711867.1:p.Arg3580Gln
XM_006711805.2:c.10709G>A	XP_006711868.1:p.Arg3570Gln
XM_006711805.3:c.10709G>A	XP_006711868.1:p.Arg3570Gln
XM_006711806.2:c.10720-795G>A	XP_006711869.1:n.10720-795G>A
XM_006711806.3:c.10720-795G>A	XP_006711869.1:n.10720-795G>A
XM_006711807.2:c.10720-795G>A	XP_006711870.1:n.10720-795G>A
XM_006711807.3:c.10720-795G>A	XP_006711870.1:n.10720-795G>A
XM_006711808.2:c.10502G>A	XP_006711871.1:p.Arg3501Gln
XM_006711808.3:c.10502G>A	XP_006711871.1:p.Arg3501Gln
XM_006711810.2:c.10687-795G>A	XP_006711873.1:n.10687-795G>A
XM_006711810.3:c.10687-795G>A	XP_006711873.1:n.10687-795G>A
XM_017002028.1:c.10718G>A	XP_016857517.1:p.Arg3573Gln