Canonical Allele Identifier: CA345413315

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947465A>C (hg19) ; chr1:g.237784165A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784165A>C , CM000663.2:g.237784165A>C	GRCh38
NC_000001.10:g.237947465A>C , CM000663.1:g.237947465A>C	GRCh37
NC_000001.9:g.236014088A>C	NCBI36
NG_008799.2:g.746764A>C
NG_008799.3:g.746982A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3545A>C	ENSP00000499659.2:n.*3545A>C
ENST00000659194.3:c.12441A>C	ENSP00000499653.3:p.Glu4147Asp
ENST00000660292.2:c.12474A>C	ENSP00000499787.2:p.Glu4158Asp
ENST00000659194.2:c.4630A>C
ENST00000366574.7:c.12453A>C MANE Select	ENSP00000355533.2:p.Glu4151Asp
ENST00000659194.1:c.4630A>C
ENST00000660292.1:c.2506A>C
ENST00000360064.7:c.12405A>C	ENSP00000353174.7:p.Glu4135Asp
ENST00000366574.6:c.12453A>C	ENSP00000355533.2:p.Glu4151Asp
ENST00000609119.1:n.3648A>C
NM_001035.2:c.12453A>C	NP_001026.2:p.Glu4151Asp
XM_006711802.2:c.12507A>C	XP_006711865.1:p.Glu4169Asp
XM_006711803.2:c.12504A>C	XP_006711866.1:p.Glu4168Asp
XM_006711804.2:c.12483A>C	XP_006711867.1:p.Glu4161Asp
XM_006711805.2:c.12477A>C	XP_006711868.1:p.Glu4159Asp
XM_006711806.2:c.12471A>C	XP_006711869.1:p.Glu4157Asp
XM_006711807.2:c.12447A>C	XP_006711870.1:p.Glu4149Asp
XM_006711808.2:c.12270A>C	XP_006711871.1:p.Glu4090Asp
XM_006711810.2:c.12414A>C	XP_006711873.1:p.Glu4138Asp
XM_006711802.3:c.12507A>C	XP_006711865.1:p.Glu4169Asp
XM_006711803.3:c.12504A>C	XP_006711866.1:p.Glu4168Asp
XM_006711804.3:c.12483A>C	XP_006711867.1:p.Glu4161Asp
XM_006711805.3:c.12477A>C	XP_006711868.1:p.Glu4159Asp
XM_006711806.3:c.12471A>C	XP_006711869.1:p.Glu4157Asp
XM_006711807.3:c.12447A>C	XP_006711870.1:p.Glu4149Asp
XM_006711808.3:c.12270A>C	XP_006711871.1:p.Glu4090Asp
XM_006711810.3:c.12414A>C	XP_006711873.1:p.Glu4138Asp
XM_017002028.1:c.12486A>C	XP_016857517.1:p.Glu4162Asp
NM_001035.3:c.12453A>C MANE Select	NP_001026.2:p.Glu4151Asp