Canonical Allele Identifier: CA2487417992

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237627931T= , CM000663.2:g.237627931T=	GRCh38
NC_000001.10:g.237791231T= , CM000663.1:g.237791231T=	GRCh37
NC_000001.9:g.235857854T=	NCBI36
NG_008799.2:g.590530T=
NG_008799.3:g.590748T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.6291T=	ENSP00000499659.2:p.Gly2097=
ENST00000659194.3:c.6291T=	ENSP00000499653.3:p.Gly2097=
ENST00000660292.2:c.6291T=	ENSP00000499787.2:p.Gly2097=
ENST00000366574.7:c.6291T= MANE Select	ENSP00000355533.2:p.Gly2097=
ENST00000360064.7:c.6243T=	ENSP00000353174.7:p.Gly2081=
ENST00000366574.6:c.6291T=	ENSP00000355533.2:p.Gly2097=
NM_001035.2:c.6291T=	NP_001026.2:p.Gly2097=
XM_006711802.2:c.6321T=	XP_006711865.1:p.Gly2107=
XM_006711803.2:c.6318T=	XP_006711866.1:p.Gly2106=
XM_006711804.2:c.6321T=	XP_006711867.1:p.Gly2107=
XM_006711805.2:c.6291T=	XP_006711868.1:p.Gly2097=
XM_006711806.2:c.6321T=	XP_006711869.1:p.Gly2107=
XM_006711807.2:c.6321T=	XP_006711870.1:p.Gly2107=
XM_006711808.2:c.6321T=	XP_006711871.1:p.Gly2107=
XM_006711809.2:c.6321T=	XP_006711872.1:p.Gly2107=
XM_006711810.2:c.6288T=	XP_006711873.1:p.Gly2096=
XR_949152.1:n.6602T=
XM_006711802.3:c.6321T=	XP_006711865.1:p.Gly2107=
XM_006711803.3:c.6318T=	XP_006711866.1:p.Gly2106=
XM_006711804.3:c.6321T=	XP_006711867.1:p.Gly2107=
XM_006711805.3:c.6291T=	XP_006711868.1:p.Gly2097=
XM_006711806.3:c.6321T=	XP_006711869.1:p.Gly2107=
XM_006711807.3:c.6321T=	XP_006711870.1:p.Gly2107=
XM_006711808.3:c.6321T=	XP_006711871.1:p.Gly2107=
XM_006711810.3:c.6288T=	XP_006711873.1:p.Gly2096=
XM_017002028.1:c.6300T=	XP_016857517.1:p.Gly2100=
XR_002957299.1:n.6635T=
XR_949152.2:n.6635T=
NM_001035.3:c.6291T= MANE Select	NP_001026.2:p.Gly2097=