Canonical Allele Identifier: CA345409319

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237778726G>C , CM000663.2:g.237778726G>C	GRCh38
NC_000001.10:g.237942026G>C , CM000663.1:g.237942026G>C	GRCh37
NC_000001.9:g.236008649G>C	NCBI36
NG_008799.2:g.741325G>C
NG_008799.3:g.741543G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.11836G>C MANE Select	NP_001026.2:p.Gly3946Arg
ENST00000366574.7:c.11836G>C MANE Select	ENSP00000355533.2:p.Gly3946Arg
NM_001035.2:c.11836G>C	NP_001026.2:p.Gly3946Arg
ENST00000360064.7:c.11788G>C	ENSP00000353174.7:p.Gly3930Arg
ENST00000366574.6:c.11836G>C	ENSP00000355533.2:p.Gly3946Arg
ENST00000609119.1:n.3031G>C
ENST00000609119.2:c.*2928G>C	ENSP00000499659.2:n.*2928G>C
ENST00000659194.1:c.4013G>C
ENST00000659194.2:c.4013G>C
ENST00000659194.3:c.11824G>C	ENSP00000499653.3:p.Gly3942Arg
ENST00000660292.1:c.1889G>C
ENST00000660292.2:c.11857G>C	ENSP00000499787.2:p.Gly3953Arg
XM_006711802.2:c.11890G>C	XP_006711865.1:p.Gly3964Arg
XM_006711802.3:c.11890G>C	XP_006711865.1:p.Gly3964Arg
XM_006711803.2:c.11887G>C	XP_006711866.1:p.Gly3963Arg
XM_006711803.3:c.11887G>C	XP_006711866.1:p.Gly3963Arg
XM_006711804.2:c.11866G>C	XP_006711867.1:p.Gly3956Arg
XM_006711804.3:c.11866G>C	XP_006711867.1:p.Gly3956Arg
XM_006711805.2:c.11860G>C	XP_006711868.1:p.Gly3954Arg
XM_006711805.3:c.11860G>C	XP_006711868.1:p.Gly3954Arg
XM_006711806.2:c.11854G>C	XP_006711869.1:p.Gly3952Arg
XM_006711806.3:c.11854G>C	XP_006711869.1:p.Gly3952Arg
XM_006711807.2:c.11830G>C	XP_006711870.1:p.Gly3944Arg
XM_006711807.3:c.11830G>C	XP_006711870.1:p.Gly3944Arg
XM_006711808.2:c.11653G>C	XP_006711871.1:p.Gly3885Arg
XM_006711808.3:c.11653G>C	XP_006711871.1:p.Gly3885Arg
XM_006711810.2:c.11797G>C	XP_006711873.1:p.Gly3933Arg
XM_006711810.3:c.11797G>C	XP_006711873.1:p.Gly3933Arg
XM_017002028.1:c.11869G>C	XP_016857517.1:p.Gly3957Arg