Canonical Allele Identifier: CA2487482465

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784286T= , CM000663.2:g.237784286T=	GRCh38
NC_000001.10:g.237947586T= , CM000663.1:g.237947586T=	GRCh37
NC_000001.9:g.236014209T=	NCBI36
NG_008799.2:g.746885T=
NG_008799.3:g.747103T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3666T=	ENSP00000499659.2:n.*3666T=
ENST00000659194.3:c.12562T=	ENSP00000499653.3:p.Phe4188=
ENST00000660292.2:c.12595T=	ENSP00000499787.2:p.Phe4199=
ENST00000659194.2:c.4751T=
ENST00000366574.7:c.12574T= MANE Select	ENSP00000355533.2:p.Phe4192=
ENST00000659194.1:c.4751T=
ENST00000660292.1:c.2627T=
ENST00000360064.7:c.12526T=	ENSP00000353174.7:p.Phe4176=
ENST00000366574.6:c.12574T=	ENSP00000355533.2:p.Phe4192=
ENST00000609119.1:n.3769T=
NM_001035.2:c.12574T=	NP_001026.2:p.Phe4192=
XM_006711802.2:c.12628T=	XP_006711865.1:p.Phe4210=
XM_006711803.2:c.12625T=	XP_006711866.1:p.Phe4209=
XM_006711804.2:c.12604T=	XP_006711867.1:p.Phe4202=
XM_006711805.2:c.12598T=	XP_006711868.1:p.Phe4200=
XM_006711806.2:c.12592T=	XP_006711869.1:p.Phe4198=
XM_006711807.2:c.12568T=	XP_006711870.1:p.Phe4190=
XM_006711808.2:c.12391T=	XP_006711871.1:p.Phe4131=
XM_006711810.2:c.12535T=	XP_006711873.1:p.Phe4179=
XM_006711802.3:c.12628T=	XP_006711865.1:p.Phe4210=
XM_006711803.3:c.12625T=	XP_006711866.1:p.Phe4209=
XM_006711804.3:c.12604T=	XP_006711867.1:p.Phe4202=
XM_006711805.3:c.12598T=	XP_006711868.1:p.Phe4200=
XM_006711806.3:c.12592T=	XP_006711869.1:p.Phe4198=
XM_006711807.3:c.12568T=	XP_006711870.1:p.Phe4190=
XM_006711808.3:c.12391T=	XP_006711871.1:p.Phe4131=
XM_006711810.3:c.12535T=	XP_006711873.1:p.Phe4179=
XM_017002028.1:c.12607T=	XP_016857517.1:p.Phe4203=
NM_001035.3:c.12574T= MANE Select	NP_001026.2:p.Phe4192=