Canonical Allele Identifier: CA085196

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784253G>A , CM000663.2:g.237784253G>A	GRCh38
NC_000001.10:g.237947553G>A , CM000663.1:g.237947553G>A	GRCh37
NC_000001.9:g.236014176G>A	NCBI36
NG_008799.2:g.746852G>A
NG_008799.3:g.747070G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.12541G>A MANE Select	NP_001026.2:p.Gly4181Arg
ENST00000366574.7:c.12541G>A MANE Select	ENSP00000355533.2:p.Gly4181Arg
NM_001035.2:c.12541G>A	NP_001026.2:p.Gly4181Arg
ENST00000360064.7:c.12493G>A	ENSP00000353174.7:p.Gly4165Arg
ENST00000366574.6:c.12541G>A	ENSP00000355533.2:p.Gly4181Arg
ENST00000609119.1:n.3736G>A
ENST00000609119.2:c.*3633G>A	ENSP00000499659.2:n.*3633G>A
ENST00000659194.1:c.4718G>A
ENST00000659194.2:c.4718G>A
ENST00000659194.3:c.12529G>A	ENSP00000499653.3:p.Gly4177Arg
ENST00000660292.1:c.2594G>A
ENST00000660292.2:c.12562G>A	ENSP00000499787.2:p.Gly4188Arg
XM_006711802.2:c.12595G>A	XP_006711865.1:p.Gly4199Arg
XM_006711802.3:c.12595G>A	XP_006711865.1:p.Gly4199Arg
XM_006711803.2:c.12592G>A	XP_006711866.1:p.Gly4198Arg
XM_006711803.3:c.12592G>A	XP_006711866.1:p.Gly4198Arg
XM_006711804.2:c.12571G>A	XP_006711867.1:p.Gly4191Arg
XM_006711804.3:c.12571G>A	XP_006711867.1:p.Gly4191Arg
XM_006711805.2:c.12565G>A	XP_006711868.1:p.Gly4189Arg
XM_006711805.3:c.12565G>A	XP_006711868.1:p.Gly4189Arg
XM_006711806.2:c.12559G>A	XP_006711869.1:p.Gly4187Arg
XM_006711806.3:c.12559G>A	XP_006711869.1:p.Gly4187Arg
XM_006711807.2:c.12535G>A	XP_006711870.1:p.Gly4179Arg
XM_006711807.3:c.12535G>A	XP_006711870.1:p.Gly4179Arg
XM_006711808.2:c.12358G>A	XP_006711871.1:p.Gly4120Arg
XM_006711808.3:c.12358G>A	XP_006711871.1:p.Gly4120Arg
XM_006711810.2:c.12502G>A	XP_006711873.1:p.Gly4168Arg
XM_006711810.3:c.12502G>A	XP_006711873.1:p.Gly4168Arg
XM_017002028.1:c.12574G>A	XP_016857517.1:p.Gly4192Arg