Canonical Allele Identifier: CA204281

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237666545C>T , CM000663.2:g.237666545C>T	GRCh38
NC_000001.10:g.237829845C>T , CM000663.1:g.237829845C>T	GRCh37
NC_000001.9:g.235896468C>T	NCBI36
NG_008799.2:g.629144C>T
NG_008799.3:g.629362C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.8470C>T MANE Select	NP_001026.2:p.Arg2824Trp
ENST00000366574.7:c.8470C>T MANE Select	ENSP00000355533.2:p.Arg2824Trp
NM_001035.2:c.8470C>T	NP_001026.2:p.Arg2824Trp
ENST00000360064.7:c.8422C>T	ENSP00000353174.7:p.Arg2808Trp
ENST00000366574.6:c.8470C>T	ENSP00000355533.2:p.Arg2824Trp
ENST00000609119.2:c.8470C>T	ENSP00000499659.2:p.Arg2824Trp
ENST00000659194.1:c.659C>T
ENST00000659194.2:c.659C>T
ENST00000659194.3:c.8470C>T	ENSP00000499653.3:p.Arg2824Trp
ENST00000660292.2:c.8470C>T	ENSP00000499787.2:p.Arg2824Trp
XM_006711802.2:c.8500C>T	XP_006711865.1:p.Arg2834Trp
XM_006711802.3:c.8500C>T	XP_006711865.1:p.Arg2834Trp
XM_006711803.2:c.8497C>T	XP_006711866.1:p.Arg2833Trp
XM_006711803.3:c.8497C>T	XP_006711866.1:p.Arg2833Trp
XM_006711804.2:c.8500C>T	XP_006711867.1:p.Arg2834Trp
XM_006711804.3:c.8500C>T	XP_006711867.1:p.Arg2834Trp
XM_006711805.2:c.8470C>T	XP_006711868.1:p.Arg2824Trp
XM_006711805.3:c.8470C>T	XP_006711868.1:p.Arg2824Trp
XM_006711806.2:c.8500C>T	XP_006711869.1:p.Arg2834Trp
XM_006711806.3:c.8500C>T	XP_006711869.1:p.Arg2834Trp
XM_006711807.2:c.8500C>T	XP_006711870.1:p.Arg2834Trp
XM_006711807.3:c.8500C>T	XP_006711870.1:p.Arg2834Trp
XM_006711808.2:c.8500C>T	XP_006711871.1:p.Arg2834Trp
XM_006711808.3:c.8500C>T	XP_006711871.1:p.Arg2834Trp
XM_006711810.2:c.8467C>T	XP_006711873.1:p.Arg2823Trp
XM_006711810.3:c.8467C>T	XP_006711873.1:p.Arg2823Trp
XM_017002028.1:c.8479C>T	XP_016857517.1:p.Arg2827Trp
XR_002957299.1:n.8881C>T
XR_949152.1:n.8781C>T
XR_949152.2:n.8814C>T