Canonical Allele Identifier: CA2487482446

Gene: RYR2

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3633G=	ENSP00000499659.2:n.*3633G=
ENST00000659194.3:c.12529G=	ENSP00000499653.3:p.Gly4177=
ENST00000660292.2:c.12562G=	ENSP00000499787.2:p.Gly4188=
ENST00000659194.2:c.4718G=
ENST00000366574.7:c.12541G= MANE Select	ENSP00000355533.2:p.Gly4181=
ENST00000659194.1:c.4718G=
ENST00000660292.1:c.2594G=
ENST00000360064.7:c.12493G=	ENSP00000353174.7:p.Gly4165=
ENST00000366574.6:c.12541G=	ENSP00000355533.2:p.Gly4181=
ENST00000609119.1:n.3736G=
NM_001035.2:c.12541G=	NP_001026.2:p.Gly4181=
XM_006711802.2:c.12595G=	XP_006711865.1:p.Gly4199=
XM_006711803.2:c.12592G=	XP_006711866.1:p.Gly4198=
XM_006711804.2:c.12571G=	XP_006711867.1:p.Gly4191=
XM_006711805.2:c.12565G=	XP_006711868.1:p.Gly4189=
XM_006711806.2:c.12559G=	XP_006711869.1:p.Gly4187=
XM_006711807.2:c.12535G=	XP_006711870.1:p.Gly4179=
XM_006711808.2:c.12358G=	XP_006711871.1:p.Gly4120=
XM_006711810.2:c.12502G=	XP_006711873.1:p.Gly4168=
XM_006711802.3:c.12595G=	XP_006711865.1:p.Gly4199=
XM_006711803.3:c.12592G=	XP_006711866.1:p.Gly4198=
XM_006711804.3:c.12571G=	XP_006711867.1:p.Gly4191=
XM_006711805.3:c.12565G=	XP_006711868.1:p.Gly4189=
XM_006711806.3:c.12559G=	XP_006711869.1:p.Gly4187=
XM_006711807.3:c.12535G=	XP_006711870.1:p.Gly4179=
XM_006711808.3:c.12358G=	XP_006711871.1:p.Gly4120=
XM_006711810.3:c.12502G=	XP_006711873.1:p.Gly4168=
XM_017002028.1:c.12574G=	XP_016857517.1:p.Gly4192=
NM_001035.3:c.12541G= MANE Select	NP_001026.2:p.Gly4181=