Canonical Allele Identifier: CA084147

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237709081A>G , CM000663.2:g.237709081A>G	GRCh38
NC_000001.10:g.237872381A>G , CM000663.1:g.237872381A>G	GRCh37
NC_000001.9:g.235939004A>G	NCBI36
NG_008799.2:g.671680A>G
NG_008799.3:g.671898A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*1160A>G	ENSP00000499659.2:n.*1160A>G
ENST00000659194.3:c.10125A>G	ENSP00000499653.3:p.Arg3375=
ENST00000660292.2:c.10125A>G	ENSP00000499787.2:p.Arg3375=
ENST00000659194.2:c.2314A>G
ENST00000366574.7:c.10125A>G MANE Select	ENSP00000355533.2:p.Arg3375=
ENST00000659194.1:c.2314A>G
ENST00000660292.1:c.157A>G
ENST00000360064.7:c.10077A>G	ENSP00000353174.7:p.Arg3359=
ENST00000366574.6:c.10125A>G	ENSP00000355533.2:p.Arg3375=
ENST00000609119.1:n.1263A>G
NM_001035.2:c.10125A>G	NP_001026.2:p.Arg3375=
XM_006711802.2:c.10155A>G	XP_006711865.1:p.Arg3385=
XM_006711803.2:c.10152A>G	XP_006711866.1:p.Arg3384=
XM_006711804.2:c.10155A>G	XP_006711867.1:p.Arg3385=
XM_006711805.2:c.10125A>G	XP_006711868.1:p.Arg3375=
XM_006711806.2:c.10155A>G	XP_006711869.1:p.Arg3385=
XM_006711807.2:c.10155A>G	XP_006711870.1:p.Arg3385=
XM_006711808.2:c.9918A>G	XP_006711871.1:p.Arg3306=
XM_006711810.2:c.10122A>G	XP_006711873.1:p.Arg3374=
XM_006711802.3:c.10155A>G	XP_006711865.1:p.Arg3385=
XM_006711803.3:c.10152A>G	XP_006711866.1:p.Arg3384=
XM_006711804.3:c.10155A>G	XP_006711867.1:p.Arg3385=
XM_006711805.3:c.10125A>G	XP_006711868.1:p.Arg3375=
XM_006711806.3:c.10155A>G	XP_006711869.1:p.Arg3385=
XM_006711807.3:c.10155A>G	XP_006711870.1:p.Arg3385=
XM_006711808.3:c.9918A>G	XP_006711871.1:p.Arg3306=
XM_006711810.3:c.10122A>G	XP_006711873.1:p.Arg3374=
XM_017002028.1:c.10134A>G	XP_016857517.1:p.Arg3378=
NM_001035.3:c.10125A>G MANE Select	NP_001026.2:p.Arg3375=