Canonical Allele Identifier: CA008279

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237819083C>T , CM000663.2:g.237819083C>T	GRCh38
NC_000001.10:g.237982383C>T , CM000663.1:g.237982383C>T	GRCh37
NC_000001.9:g.236049006C>T	NCBI36
NG_008799.2:g.781682C>T
NG_008799.3:g.781900C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5573C>T	ENSP00000499659.2:n.*5573C>T
ENST00000659194.3:c.14463C>T	ENSP00000499653.3:p.Ile4821=
ENST00000660292.2:c.14502C>T	ENSP00000499787.2:p.Ile4834=
ENST00000659194.2:c.6652C>T
ENST00000366574.7:c.14481C>T MANE Select	ENSP00000355533.2:p.Ile4827=
ENST00000360064.7:c.14430C>T	ENSP00000353174.7:p.Ile4810=
ENST00000366574.6:c.14481C>T	ENSP00000355533.2:p.Ile4827=
ENST00000608590.5:n.992C>T
NM_001035.2:c.14481C>T	NP_001026.2:p.Ile4827=
XM_006711802.2:c.14535C>T	XP_006711865.1:p.Ile4845=
XM_006711803.2:c.14532C>T	XP_006711866.1:p.Ile4844=
XM_006711804.2:c.14511C>T	XP_006711867.1:p.Ile4837=
XM_006711805.2:c.14505C>T	XP_006711868.1:p.Ile4835=
XM_006711806.2:c.14499C>T	XP_006711869.1:p.Ile4833=
XM_006711807.2:c.14475C>T	XP_006711870.1:p.Ile4825=
XM_006711808.2:c.14298C>T	XP_006711871.1:p.Ile4766=
XM_006711810.2:c.14442C>T	XP_006711873.1:p.Ile4814=
XM_006711802.3:c.14535C>T	XP_006711865.1:p.Ile4845=
XM_006711803.3:c.14532C>T	XP_006711866.1:p.Ile4844=
XM_006711804.3:c.14511C>T	XP_006711867.1:p.Ile4837=
XM_006711805.3:c.14505C>T	XP_006711868.1:p.Ile4835=
XM_006711806.3:c.14499C>T	XP_006711869.1:p.Ile4833=
XM_006711807.3:c.14475C>T	XP_006711870.1:p.Ile4825=
XM_006711808.3:c.14298C>T	XP_006711871.1:p.Ile4766=
XM_006711810.3:c.14442C>T	XP_006711873.1:p.Ile4814=
XM_017002028.1:c.14514C>T	XP_016857517.1:p.Ile4838=
NM_001035.3:c.14481C>T MANE Select	NP_001026.2:p.Ile4827=