Canonical Allele Identifier: CA424032213

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947471T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784171T>C , CM000663.2:g.237784171T>C	GRCh38
NC_000001.10:g.237947471T>C , CM000663.1:g.237947471T>C	GRCh37
NC_000001.9:g.236014094T>C	NCBI36
NG_008799.2:g.746770T>C
NG_008799.3:g.746988T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3551T>C	ENSP00000499659.2:n.*3551T>C
ENST00000659194.3:c.12447T>C	ENSP00000499653.3:p.Ser4149=
ENST00000660292.2:c.12480T>C	ENSP00000499787.2:p.Ser4160=
ENST00000659194.2:c.4636T>C
ENST00000366574.7:c.12459T>C MANE Select	ENSP00000355533.2:p.Ser4153=
ENST00000659194.1:c.4636T>C
ENST00000660292.1:c.2512T>C
ENST00000360064.7:c.12411T>C	ENSP00000353174.7:p.Ser4137=
ENST00000366574.6:c.12459T>C	ENSP00000355533.2:p.Ser4153=
ENST00000609119.1:n.3654T>C
NM_001035.2:c.12459T>C	NP_001026.2:p.Ser4153=
XM_006711802.2:c.12513T>C	XP_006711865.1:p.Ser4171=
XM_006711803.2:c.12510T>C	XP_006711866.1:p.Ser4170=
XM_006711804.2:c.12489T>C	XP_006711867.1:p.Ser4163=
XM_006711805.2:c.12483T>C	XP_006711868.1:p.Ser4161=
XM_006711806.2:c.12477T>C	XP_006711869.1:p.Ser4159=
XM_006711807.2:c.12453T>C	XP_006711870.1:p.Ser4151=
XM_006711808.2:c.12276T>C	XP_006711871.1:p.Ser4092=
XM_006711810.2:c.12420T>C	XP_006711873.1:p.Ser4140=
XM_006711802.3:c.12513T>C	XP_006711865.1:p.Ser4171=
XM_006711803.3:c.12510T>C	XP_006711866.1:p.Ser4170=
XM_006711804.3:c.12489T>C	XP_006711867.1:p.Ser4163=
XM_006711805.3:c.12483T>C	XP_006711868.1:p.Ser4161=
XM_006711806.3:c.12477T>C	XP_006711869.1:p.Ser4159=
XM_006711807.3:c.12453T>C	XP_006711870.1:p.Ser4151=
XM_006711808.3:c.12276T>C	XP_006711871.1:p.Ser4092=
XM_006711810.3:c.12420T>C	XP_006711873.1:p.Ser4140=
XM_017002028.1:c.12492T>C	XP_016857517.1:p.Ser4164=
NM_001035.3:c.12459T>C MANE Select	NP_001026.2:p.Ser4153=