Canonical Allele Identifier: CA087749

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237678055C>T , CM000663.2:g.237678055C>T	GRCh38
NC_000001.10:g.237841355C>T , CM000663.1:g.237841355C>T	GRCh37
NC_000001.9:g.235907978C>T	NCBI36
NG_008799.2:g.640654C>T
NG_008799.3:g.640872C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.8838C>T MANE Select	NP_001026.2:p.Gly2946=
ENST00000366574.7:c.8838C>T MANE Select	ENSP00000355533.2:p.Gly2946=
NM_001035.2:c.8838C>T	NP_001026.2:p.Gly2946=
ENST00000360064.7:c.8790C>T	ENSP00000353174.7:p.Gly2930=
ENST00000366574.6:c.8838C>T	ENSP00000355533.2:p.Gly2946=
ENST00000609119.1:n.84-2401C>T
ENST00000609119.2:c.8831-2401C>T	ENSP00000499659.2:n.8831-2401C>T
ENST00000659194.1:c.1027C>T
ENST00000659194.2:c.1027C>T
ENST00000659194.3:c.8838C>T	ENSP00000499653.3:p.Gly2946=
ENST00000660292.2:c.8838C>T	ENSP00000499787.2:p.Gly2946=
XM_006711802.2:c.8868C>T	XP_006711865.1:p.Gly2956=
XM_006711802.3:c.8868C>T	XP_006711865.1:p.Gly2956=
XM_006711803.2:c.8865C>T	XP_006711866.1:p.Gly2955=
XM_006711803.3:c.8865C>T	XP_006711866.1:p.Gly2955=
XM_006711804.2:c.8868C>T	XP_006711867.1:p.Gly2956=
XM_006711804.3:c.8868C>T	XP_006711867.1:p.Gly2956=
XM_006711805.2:c.8838C>T	XP_006711868.1:p.Gly2946=
XM_006711805.3:c.8838C>T	XP_006711868.1:p.Gly2946=
XM_006711806.2:c.8868C>T	XP_006711869.1:p.Gly2956=
XM_006711806.3:c.8868C>T	XP_006711869.1:p.Gly2956=
XM_006711807.2:c.8868C>T	XP_006711870.1:p.Gly2956=
XM_006711807.3:c.8868C>T	XP_006711870.1:p.Gly2956=
XM_006711808.2:c.8860+3209C>T	XP_006711871.1:n.8860+3209C>T
XM_006711808.3:c.8860+3209C>T	XP_006711871.1:n.8860+3209C>T
XM_006711810.2:c.8835C>T	XP_006711873.1:p.Gly2945=
XM_006711810.3:c.8835C>T	XP_006711873.1:p.Gly2945=
XM_017002028.1:c.8847C>T	XP_016857517.1:p.Gly2949=
XR_949152.1:n.9149C>T
XR_949152.2:n.9182C>T