Canonical Allele Identifier: CA424032253

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947501C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784201C>G , CM000663.2:g.237784201C>G	GRCh38
NC_000001.10:g.237947501C>G , CM000663.1:g.237947501C>G	GRCh37
NC_000001.9:g.236014124C>G	NCBI36
NG_008799.2:g.746800C>G
NG_008799.3:g.747018C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3581C>G	ENSP00000499659.2:n.*3581C>G
ENST00000659194.3:c.12477C>G	ENSP00000499653.3:p.Pro4159=
ENST00000660292.2:c.12510C>G	ENSP00000499787.2:p.Pro4170=
ENST00000659194.2:c.4666C>G
ENST00000366574.7:c.12489C>G MANE Select	ENSP00000355533.2:p.Pro4163=
ENST00000659194.1:c.4666C>G
ENST00000660292.1:c.2542C>G
ENST00000360064.7:c.12441C>G	ENSP00000353174.7:p.Pro4147=
ENST00000366574.6:c.12489C>G	ENSP00000355533.2:p.Pro4163=
ENST00000609119.1:n.3684C>G
NM_001035.2:c.12489C>G	NP_001026.2:p.Pro4163=
XM_006711802.2:c.12543C>G	XP_006711865.1:p.Pro4181=
XM_006711803.2:c.12540C>G	XP_006711866.1:p.Pro4180=
XM_006711804.2:c.12519C>G	XP_006711867.1:p.Pro4173=
XM_006711805.2:c.12513C>G	XP_006711868.1:p.Pro4171=
XM_006711806.2:c.12507C>G	XP_006711869.1:p.Pro4169=
XM_006711807.2:c.12483C>G	XP_006711870.1:p.Pro4161=
XM_006711808.2:c.12306C>G	XP_006711871.1:p.Pro4102=
XM_006711810.2:c.12450C>G	XP_006711873.1:p.Pro4150=
XM_006711802.3:c.12543C>G	XP_006711865.1:p.Pro4181=
XM_006711803.3:c.12540C>G	XP_006711866.1:p.Pro4180=
XM_006711804.3:c.12519C>G	XP_006711867.1:p.Pro4173=
XM_006711805.3:c.12513C>G	XP_006711868.1:p.Pro4171=
XM_006711806.3:c.12507C>G	XP_006711869.1:p.Pro4169=
XM_006711807.3:c.12483C>G	XP_006711870.1:p.Pro4161=
XM_006711808.3:c.12306C>G	XP_006711871.1:p.Pro4102=
XM_006711810.3:c.12450C>G	XP_006711873.1:p.Pro4150=
XM_017002028.1:c.12522C>G	XP_016857517.1:p.Pro4174=
NM_001035.3:c.12489C>G MANE Select	NP_001026.2:p.Pro4163=