Canonical Allele Identifier: CA345429935

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237760980C>T , CM000663.2:g.237760980C>T	GRCh38
NC_000001.10:g.237924280C>T , CM000663.1:g.237924280C>T	GRCh37
NC_000001.9:g.235990903C>T	NCBI36
NG_008799.2:g.723579C>T
NG_008799.3:g.723797C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2520C>T	ENSP00000499659.2:n.*2520C>T
ENST00000659194.3:c.11416C>T	ENSP00000499653.3:p.Arg3806Ter
ENST00000660292.2:c.11416C>T	ENSP00000499787.2:p.Arg3806Ter
ENST00000659194.2:c.3605C>T
ENST00000366574.7:c.11428C>T MANE Select	ENSP00000355533.2:p.Arg3810Ter
ENST00000659194.1:c.3605C>T
ENST00000660292.1:c.1448C>T
ENST00000360064.7:c.11380C>T	ENSP00000353174.7:p.Arg3794Ter
ENST00000366574.6:c.11428C>T	ENSP00000355533.2:p.Arg3810Ter
ENST00000609119.1:n.2623C>T
NM_001035.2:c.11428C>T	NP_001026.2:p.Arg3810Ter
XM_006711802.2:c.11482C>T	XP_006711865.1:p.Arg3828Ter
XM_006711803.2:c.11479C>T	XP_006711866.1:p.Arg3827Ter
XM_006711804.2:c.11458C>T	XP_006711867.1:p.Arg3820Ter
XM_006711805.2:c.11452C>T	XP_006711868.1:p.Arg3818Ter
XM_006711806.2:c.11446C>T	XP_006711869.1:p.Arg3816Ter
XM_006711807.2:c.11422C>T	XP_006711870.1:p.Arg3808Ter
XM_006711808.2:c.11245C>T	XP_006711871.1:p.Arg3749Ter
XM_006711810.2:c.11389C>T	XP_006711873.1:p.Arg3797Ter
XM_006711802.3:c.11482C>T	XP_006711865.1:p.Arg3828Ter
XM_006711803.3:c.11479C>T	XP_006711866.1:p.Arg3827Ter
XM_006711804.3:c.11458C>T	XP_006711867.1:p.Arg3820Ter
XM_006711805.3:c.11452C>T	XP_006711868.1:p.Arg3818Ter
XM_006711806.3:c.11446C>T	XP_006711869.1:p.Arg3816Ter
XM_006711807.3:c.11422C>T	XP_006711870.1:p.Arg3808Ter
XM_006711808.3:c.11245C>T	XP_006711871.1:p.Arg3749Ter
XM_006711810.3:c.11389C>T	XP_006711873.1:p.Arg3797Ter
XM_017002028.1:c.11461C>T	XP_016857517.1:p.Arg3821Ter
NM_001035.3:c.11428C>T MANE Select	NP_001026.2:p.Arg3810Ter