Canonical Allele Identifier: CA424032279

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947522A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784222A>G , CM000663.2:g.237784222A>G	GRCh38
NC_000001.10:g.237947522A>G , CM000663.1:g.237947522A>G	GRCh37
NC_000001.9:g.236014145A>G	NCBI36
NG_008799.2:g.746821A>G
NG_008799.3:g.747039A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3602A>G	ENSP00000499659.2:n.*3602A>G
ENST00000659194.3:c.12498A>G	ENSP00000499653.3:p.Arg4166=
ENST00000660292.2:c.12531A>G	ENSP00000499787.2:p.Arg4177=
ENST00000659194.2:c.4687A>G
ENST00000366574.7:c.12510A>G MANE Select	ENSP00000355533.2:p.Arg4170=
ENST00000659194.1:c.4687A>G
ENST00000660292.1:c.2563A>G
ENST00000360064.7:c.12462A>G	ENSP00000353174.7:p.Arg4154=
ENST00000366574.6:c.12510A>G	ENSP00000355533.2:p.Arg4170=
ENST00000609119.1:n.3705A>G
NM_001035.2:c.12510A>G	NP_001026.2:p.Arg4170=
XM_006711802.2:c.12564A>G	XP_006711865.1:p.Arg4188=
XM_006711803.2:c.12561A>G	XP_006711866.1:p.Arg4187=
XM_006711804.2:c.12540A>G	XP_006711867.1:p.Arg4180=
XM_006711805.2:c.12534A>G	XP_006711868.1:p.Arg4178=
XM_006711806.2:c.12528A>G	XP_006711869.1:p.Arg4176=
XM_006711807.2:c.12504A>G	XP_006711870.1:p.Arg4168=
XM_006711808.2:c.12327A>G	XP_006711871.1:p.Arg4109=
XM_006711810.2:c.12471A>G	XP_006711873.1:p.Arg4157=
XM_006711802.3:c.12564A>G	XP_006711865.1:p.Arg4188=
XM_006711803.3:c.12561A>G	XP_006711866.1:p.Arg4187=
XM_006711804.3:c.12540A>G	XP_006711867.1:p.Arg4180=
XM_006711805.3:c.12534A>G	XP_006711868.1:p.Arg4178=
XM_006711806.3:c.12528A>G	XP_006711869.1:p.Arg4176=
XM_006711807.3:c.12504A>G	XP_006711870.1:p.Arg4168=
XM_006711808.3:c.12327A>G	XP_006711871.1:p.Arg4109=
XM_006711810.3:c.12471A>G	XP_006711873.1:p.Arg4157=
XM_017002028.1:c.12543A>G	XP_016857517.1:p.Arg4181=
NM_001035.3:c.12510A>G MANE Select	NP_001026.2:p.Arg4170=