Canonical Allele Identifier: CA424032218

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947477C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784177C>A , CM000663.2:g.237784177C>A	GRCh38
NC_000001.10:g.237947477C>A , CM000663.1:g.237947477C>A	GRCh37
NC_000001.9:g.236014100C>A	NCBI36
NG_008799.2:g.746776C>A
NG_008799.3:g.746994C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3557C>A	ENSP00000499659.2:n.*3557C>A
ENST00000659194.3:c.12453C>A	ENSP00000499653.3:p.Ser4151=
ENST00000660292.2:c.12486C>A	ENSP00000499787.2:p.Ser4162=
ENST00000659194.2:c.4642C>A
ENST00000366574.7:c.12465C>A MANE Select	ENSP00000355533.2:p.Ser4155=
ENST00000659194.1:c.4642C>A
ENST00000660292.1:c.2518C>A
ENST00000360064.7:c.12417C>A	ENSP00000353174.7:p.Ser4139=
ENST00000366574.6:c.12465C>A	ENSP00000355533.2:p.Ser4155=
ENST00000609119.1:n.3660C>A
NM_001035.2:c.12465C>A	NP_001026.2:p.Ser4155=
XM_006711802.2:c.12519C>A	XP_006711865.1:p.Ser4173=
XM_006711803.2:c.12516C>A	XP_006711866.1:p.Ser4172=
XM_006711804.2:c.12495C>A	XP_006711867.1:p.Ser4165=
XM_006711805.2:c.12489C>A	XP_006711868.1:p.Ser4163=
XM_006711806.2:c.12483C>A	XP_006711869.1:p.Ser4161=
XM_006711807.2:c.12459C>A	XP_006711870.1:p.Ser4153=
XM_006711808.2:c.12282C>A	XP_006711871.1:p.Ser4094=
XM_006711810.2:c.12426C>A	XP_006711873.1:p.Ser4142=
XM_006711802.3:c.12519C>A	XP_006711865.1:p.Ser4173=
XM_006711803.3:c.12516C>A	XP_006711866.1:p.Ser4172=
XM_006711804.3:c.12495C>A	XP_006711867.1:p.Ser4165=
XM_006711805.3:c.12489C>A	XP_006711868.1:p.Ser4163=
XM_006711806.3:c.12483C>A	XP_006711869.1:p.Ser4161=
XM_006711807.3:c.12459C>A	XP_006711870.1:p.Ser4153=
XM_006711808.3:c.12282C>A	XP_006711871.1:p.Ser4094=
XM_006711810.3:c.12426C>A	XP_006711873.1:p.Ser4142=
XM_017002028.1:c.12498C>A	XP_016857517.1:p.Ser4166=
NM_001035.3:c.12465C>A MANE Select	NP_001026.2:p.Ser4155=