Canonical Allele Identifier: CA085309

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784925C>T , CM000663.2:g.237784925C>T	GRCh38
NC_000001.10:g.237948225C>T , CM000663.1:g.237948225C>T	GRCh37
NC_000001.9:g.236014848C>T	NCBI36
NG_008799.2:g.747524C>T
NG_008799.3:g.747742C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.13213C>T MANE Select	NP_001026.2:p.Leu4405Phe
ENST00000366574.7:c.13213C>T MANE Select	ENSP00000355533.2:p.Leu4405Phe
NM_001035.2:c.13213C>T	NP_001026.2:p.Leu4405Phe
ENST00000360064.7:c.13165C>T	ENSP00000353174.7:p.Leu4389Phe
ENST00000366574.6:c.13213C>T	ENSP00000355533.2:p.Leu4405Phe
ENST00000609119.1:n.4408C>T
ENST00000609119.2:c.*4305C>T	ENSP00000499659.2:n.*4305C>T
ENST00000659194.1:c.5390C>T
ENST00000659194.2:c.5390C>T
ENST00000659194.3:c.13201C>T	ENSP00000499653.3:p.Leu4401Phe
ENST00000660292.1:c.3266C>T
ENST00000660292.2:c.13234C>T	ENSP00000499787.2:p.Leu4412Phe
XM_006711802.2:c.13267C>T	XP_006711865.1:p.Leu4423Phe
XM_006711802.3:c.13267C>T	XP_006711865.1:p.Leu4423Phe
XM_006711803.2:c.13264C>T	XP_006711866.1:p.Leu4422Phe
XM_006711803.3:c.13264C>T	XP_006711866.1:p.Leu4422Phe
XM_006711804.2:c.13243C>T	XP_006711867.1:p.Leu4415Phe
XM_006711804.3:c.13243C>T	XP_006711867.1:p.Leu4415Phe
XM_006711805.2:c.13237C>T	XP_006711868.1:p.Leu4413Phe
XM_006711805.3:c.13237C>T	XP_006711868.1:p.Leu4413Phe
XM_006711806.2:c.13231C>T	XP_006711869.1:p.Leu4411Phe
XM_006711806.3:c.13231C>T	XP_006711869.1:p.Leu4411Phe
XM_006711807.2:c.13207C>T	XP_006711870.1:p.Leu4403Phe
XM_006711807.3:c.13207C>T	XP_006711870.1:p.Leu4403Phe
XM_006711808.2:c.13030C>T	XP_006711871.1:p.Leu4344Phe
XM_006711808.3:c.13030C>T	XP_006711871.1:p.Leu4344Phe
XM_006711810.2:c.13174C>T	XP_006711873.1:p.Leu4392Phe
XM_006711810.3:c.13174C>T	XP_006711873.1:p.Leu4392Phe
XM_017002028.1:c.13246C>T	XP_016857517.1:p.Leu4416Phe