Canonical Allele Identifier: CA345413575

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947549A>T (hg19) ; chr1:g.237784249A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784249A>T , CM000663.2:g.237784249A>T	GRCh38
NC_000001.10:g.237947549A>T , CM000663.1:g.237947549A>T	GRCh37
NC_000001.9:g.236014172A>T	NCBI36
NG_008799.2:g.746848A>T
NG_008799.3:g.747066A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3629A>T	ENSP00000499659.2:n.*3629A>T
ENST00000659194.3:c.12525A>T	ENSP00000499653.3:p.Glu4175Asp
ENST00000660292.2:c.12558A>T	ENSP00000499787.2:p.Glu4186Asp
ENST00000659194.2:c.4714A>T
ENST00000366574.7:c.12537A>T MANE Select	ENSP00000355533.2:p.Glu4179Asp
ENST00000659194.1:c.4714A>T
ENST00000660292.1:c.2590A>T
ENST00000360064.7:c.12489A>T	ENSP00000353174.7:p.Glu4163Asp
ENST00000366574.6:c.12537A>T	ENSP00000355533.2:p.Glu4179Asp
ENST00000609119.1:n.3732A>T
NM_001035.2:c.12537A>T	NP_001026.2:p.Glu4179Asp
XM_006711802.2:c.12591A>T	XP_006711865.1:p.Glu4197Asp
XM_006711803.2:c.12588A>T	XP_006711866.1:p.Glu4196Asp
XM_006711804.2:c.12567A>T	XP_006711867.1:p.Glu4189Asp
XM_006711805.2:c.12561A>T	XP_006711868.1:p.Glu4187Asp
XM_006711806.2:c.12555A>T	XP_006711869.1:p.Glu4185Asp
XM_006711807.2:c.12531A>T	XP_006711870.1:p.Glu4177Asp
XM_006711808.2:c.12354A>T	XP_006711871.1:p.Glu4118Asp
XM_006711810.2:c.12498A>T	XP_006711873.1:p.Glu4166Asp
XM_006711802.3:c.12591A>T	XP_006711865.1:p.Glu4197Asp
XM_006711803.3:c.12588A>T	XP_006711866.1:p.Glu4196Asp
XM_006711804.3:c.12567A>T	XP_006711867.1:p.Glu4189Asp
XM_006711805.3:c.12561A>T	XP_006711868.1:p.Glu4187Asp
XM_006711806.3:c.12555A>T	XP_006711869.1:p.Glu4185Asp
XM_006711807.3:c.12531A>T	XP_006711870.1:p.Glu4177Asp
XM_006711808.3:c.12354A>T	XP_006711871.1:p.Glu4118Asp
XM_006711810.3:c.12498A>T	XP_006711873.1:p.Glu4166Asp
XM_017002028.1:c.12570A>T	XP_016857517.1:p.Glu4190Asp
NM_001035.3:c.12537A>T MANE Select	NP_001026.2:p.Glu4179Asp