Canonical Allele Identifier: CA086863

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237614406C>T , CM000663.2:g.237614406C>T	GRCh38
NC_000001.10:g.237777706C>T , CM000663.1:g.237777706C>T	GRCh37
NC_000001.9:g.235844329C>T	NCBI36
NG_008799.2:g.577005C>T
NG_008799.3:g.577223C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.5278C>T MANE Select	NP_001026.2:p.Arg1760Trp
ENST00000366574.7:c.5278C>T MANE Select	ENSP00000355533.2:p.Arg1760Trp
NM_001035.2:c.5278C>T	NP_001026.2:p.Arg1760Trp
ENST00000360064.7:c.5230C>T	ENSP00000353174.7:p.Arg1744Trp
ENST00000366574.6:c.5278C>T	ENSP00000355533.2:p.Arg1760Trp
ENST00000609119.2:c.5278C>T	ENSP00000499659.2:p.Arg1760Trp
ENST00000659194.3:c.5278C>T	ENSP00000499653.3:p.Arg1760Trp
ENST00000660292.2:c.5278C>T	ENSP00000499787.2:p.Arg1760Trp
XM_006711802.2:c.5308C>T	XP_006711865.1:p.Arg1770Trp
XM_006711802.3:c.5308C>T	XP_006711865.1:p.Arg1770Trp
XM_006711803.2:c.5305C>T	XP_006711866.1:p.Arg1769Trp
XM_006711803.3:c.5305C>T	XP_006711866.1:p.Arg1769Trp
XM_006711804.2:c.5308C>T	XP_006711867.1:p.Arg1770Trp
XM_006711804.3:c.5308C>T	XP_006711867.1:p.Arg1770Trp
XM_006711805.2:c.5278C>T	XP_006711868.1:p.Arg1760Trp
XM_006711805.3:c.5278C>T	XP_006711868.1:p.Arg1760Trp
XM_006711806.2:c.5308C>T	XP_006711869.1:p.Arg1770Trp
XM_006711806.3:c.5308C>T	XP_006711869.1:p.Arg1770Trp
XM_006711807.2:c.5308C>T	XP_006711870.1:p.Arg1770Trp
XM_006711807.3:c.5308C>T	XP_006711870.1:p.Arg1770Trp
XM_006711808.2:c.5308C>T	XP_006711871.1:p.Arg1770Trp
XM_006711808.3:c.5308C>T	XP_006711871.1:p.Arg1770Trp
XM_006711809.2:c.5308C>T	XP_006711872.1:p.Arg1770Trp
XM_006711810.2:c.5275C>T	XP_006711873.1:p.Arg1759Trp
XM_006711810.3:c.5275C>T	XP_006711873.1:p.Arg1759Trp
XM_017002028.1:c.5287C>T	XP_016857517.1:p.Arg1763Trp
XR_002957299.1:n.5622C>T
XR_949152.1:n.5589C>T
XR_949152.2:n.5622C>T