Canonical Allele Identifier: CA424032262

Gene: RYR2

Linked Data

• COSMIC: COSM906261
• MyVariant Identifiers: chr1:g.237947507C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784207C>G , CM000663.2:g.237784207C>G	GRCh38
NC_000001.10:g.237947507C>G , CM000663.1:g.237947507C>G	GRCh37
NC_000001.9:g.236014130C>G	NCBI36
NG_008799.2:g.746806C>G
NG_008799.3:g.747024C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3587C>G	ENSP00000499659.2:n.*3587C>G
ENST00000659194.3:c.12483C>G	ENSP00000499653.3:p.Val4161=
ENST00000660292.2:c.12516C>G	ENSP00000499787.2:p.Val4172=
ENST00000659194.2:c.4672C>G
ENST00000366574.7:c.12495C>G MANE Select	ENSP00000355533.2:p.Val4165=
ENST00000659194.1:c.4672C>G
ENST00000660292.1:c.2548C>G
ENST00000360064.7:c.12447C>G	ENSP00000353174.7:p.Val4149=
ENST00000366574.6:c.12495C>G	ENSP00000355533.2:p.Val4165=
ENST00000609119.1:n.3690C>G
NM_001035.2:c.12495C>G	NP_001026.2:p.Val4165=
XM_006711802.2:c.12549C>G	XP_006711865.1:p.Val4183=
XM_006711803.2:c.12546C>G	XP_006711866.1:p.Val4182=
XM_006711804.2:c.12525C>G	XP_006711867.1:p.Val4175=
XM_006711805.2:c.12519C>G	XP_006711868.1:p.Val4173=
XM_006711806.2:c.12513C>G	XP_006711869.1:p.Val4171=
XM_006711807.2:c.12489C>G	XP_006711870.1:p.Val4163=
XM_006711808.2:c.12312C>G	XP_006711871.1:p.Val4104=
XM_006711810.2:c.12456C>G	XP_006711873.1:p.Val4152=
XM_006711802.3:c.12549C>G	XP_006711865.1:p.Val4183=
XM_006711803.3:c.12546C>G	XP_006711866.1:p.Val4182=
XM_006711804.3:c.12525C>G	XP_006711867.1:p.Val4175=
XM_006711805.3:c.12519C>G	XP_006711868.1:p.Val4173=
XM_006711806.3:c.12513C>G	XP_006711869.1:p.Val4171=
XM_006711807.3:c.12489C>G	XP_006711870.1:p.Val4163=
XM_006711808.3:c.12312C>G	XP_006711871.1:p.Val4104=
XM_006711810.3:c.12456C>G	XP_006711873.1:p.Val4152=
XM_017002028.1:c.12528C>G	XP_016857517.1:p.Val4176=
NM_001035.3:c.12495C>G MANE Select	NP_001026.2:p.Val4165=