Canonical Allele Identifier: CA2487482436

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784237C= , CM000663.2:g.237784237C=	GRCh38
NC_000001.10:g.237947537C= , CM000663.1:g.237947537C=	GRCh37
NC_000001.9:g.236014160C=	NCBI36
NG_008799.2:g.746836C=
NG_008799.3:g.747054C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3617C=	ENSP00000499659.2:n.*3617C=
ENST00000659194.3:c.12513C=	ENSP00000499653.3:p.Asp4171=
ENST00000660292.2:c.12546C=	ENSP00000499787.2:p.Asp4182=
ENST00000659194.2:c.4702C=
ENST00000366574.7:c.12525C= MANE Select	ENSP00000355533.2:p.Asp4175=
ENST00000659194.1:c.4702C=
ENST00000660292.1:c.2578C=
ENST00000360064.7:c.12477C=	ENSP00000353174.7:p.Asp4159=
ENST00000366574.6:c.12525C=	ENSP00000355533.2:p.Asp4175=
ENST00000609119.1:n.3720C=
NM_001035.2:c.12525C=	NP_001026.2:p.Asp4175=
XM_006711802.2:c.12579C=	XP_006711865.1:p.Asp4193=
XM_006711803.2:c.12576C=	XP_006711866.1:p.Asp4192=
XM_006711804.2:c.12555C=	XP_006711867.1:p.Asp4185=
XM_006711805.2:c.12549C=	XP_006711868.1:p.Asp4183=
XM_006711806.2:c.12543C=	XP_006711869.1:p.Asp4181=
XM_006711807.2:c.12519C=	XP_006711870.1:p.Asp4173=
XM_006711808.2:c.12342C=	XP_006711871.1:p.Asp4114=
XM_006711810.2:c.12486C=	XP_006711873.1:p.Asp4162=
XM_006711802.3:c.12579C=	XP_006711865.1:p.Asp4193=
XM_006711803.3:c.12576C=	XP_006711866.1:p.Asp4192=
XM_006711804.3:c.12555C=	XP_006711867.1:p.Asp4185=
XM_006711805.3:c.12549C=	XP_006711868.1:p.Asp4183=
XM_006711806.3:c.12543C=	XP_006711869.1:p.Asp4181=
XM_006711807.3:c.12519C=	XP_006711870.1:p.Asp4173=
XM_006711808.3:c.12342C=	XP_006711871.1:p.Asp4114=
XM_006711810.3:c.12486C=	XP_006711873.1:p.Asp4162=
XM_017002028.1:c.12558C=	XP_016857517.1:p.Asp4186=
NM_001035.3:c.12525C= MANE Select	NP_001026.2:p.Asp4175=