Canonical Allele Identifier: CA345413257

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947451A>T (hg19) ; chr1:g.237784151A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784151A>T , CM000663.2:g.237784151A>T	GRCh38
NC_000001.10:g.237947451A>T , CM000663.1:g.237947451A>T	GRCh37
NC_000001.9:g.236014074A>T	NCBI36
NG_008799.2:g.746750A>T
NG_008799.3:g.746968A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3531A>T	ENSP00000499659.2:n.*3531A>T
ENST00000659194.3:c.12427A>T	ENSP00000499653.3:p.Arg4143Trp
ENST00000660292.2:c.12460A>T	ENSP00000499787.2:p.Arg4154Trp
ENST00000659194.2:c.4616A>T
ENST00000366574.7:c.12439A>T MANE Select	ENSP00000355533.2:p.Arg4147Trp
ENST00000659194.1:c.4616A>T
ENST00000660292.1:c.2492A>T
ENST00000360064.7:c.12391A>T	ENSP00000353174.7:p.Arg4131Trp
ENST00000366574.6:c.12439A>T	ENSP00000355533.2:p.Arg4147Trp
ENST00000609119.1:n.3634A>T
NM_001035.2:c.12439A>T	NP_001026.2:p.Arg4147Trp
XM_006711802.2:c.12493A>T	XP_006711865.1:p.Arg4165Trp
XM_006711803.2:c.12490A>T	XP_006711866.1:p.Arg4164Trp
XM_006711804.2:c.12469A>T	XP_006711867.1:p.Arg4157Trp
XM_006711805.2:c.12463A>T	XP_006711868.1:p.Arg4155Trp
XM_006711806.2:c.12457A>T	XP_006711869.1:p.Arg4153Trp
XM_006711807.2:c.12433A>T	XP_006711870.1:p.Arg4145Trp
XM_006711808.2:c.12256A>T	XP_006711871.1:p.Arg4086Trp
XM_006711810.2:c.12400A>T	XP_006711873.1:p.Arg4134Trp
XM_006711802.3:c.12493A>T	XP_006711865.1:p.Arg4165Trp
XM_006711803.3:c.12490A>T	XP_006711866.1:p.Arg4164Trp
XM_006711804.3:c.12469A>T	XP_006711867.1:p.Arg4157Trp
XM_006711805.3:c.12463A>T	XP_006711868.1:p.Arg4155Trp
XM_006711806.3:c.12457A>T	XP_006711869.1:p.Arg4153Trp
XM_006711807.3:c.12433A>T	XP_006711870.1:p.Arg4145Trp
XM_006711808.3:c.12256A>T	XP_006711871.1:p.Arg4086Trp
XM_006711810.3:c.12400A>T	XP_006711873.1:p.Arg4134Trp
XM_017002028.1:c.12472A>T	XP_016857517.1:p.Arg4158Trp
NM_001035.3:c.12439A>T MANE Select	NP_001026.2:p.Arg4147Trp