Canonical Allele Identifier: CA2487480115

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237778712G= , CM000663.2:g.237778712G=	GRCh38
NC_000001.10:g.237942012G= , CM000663.1:g.237942012G=	GRCh37
NC_000001.9:g.236008635G=	NCBI36
NG_008799.2:g.741311G=
NG_008799.3:g.741529G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2914G=	ENSP00000499659.2:n.*2914G=
ENST00000659194.3:c.11810G=	ENSP00000499653.3:p.Trp3937=
ENST00000660292.2:c.11843G=	ENSP00000499787.2:p.Trp3948=
ENST00000659194.2:c.3999G=
ENST00000366574.7:c.11822G= MANE Select	ENSP00000355533.2:p.Trp3941=
ENST00000659194.1:c.3999G=
ENST00000660292.1:c.1875G=
ENST00000360064.7:c.11774G=	ENSP00000353174.7:p.Trp3925=
ENST00000366574.6:c.11822G=	ENSP00000355533.2:p.Trp3941=
ENST00000609119.1:n.3017G=
NM_001035.2:c.11822G=	NP_001026.2:p.Trp3941=
XM_006711802.2:c.11876G=	XP_006711865.1:p.Trp3959=
XM_006711803.2:c.11873G=	XP_006711866.1:p.Trp3958=
XM_006711804.2:c.11852G=	XP_006711867.1:p.Trp3951=
XM_006711805.2:c.11846G=	XP_006711868.1:p.Trp3949=
XM_006711806.2:c.11840G=	XP_006711869.1:p.Trp3947=
XM_006711807.2:c.11816G=	XP_006711870.1:p.Trp3939=
XM_006711808.2:c.11639G=	XP_006711871.1:p.Trp3880=
XM_006711810.2:c.11783G=	XP_006711873.1:p.Trp3928=
XM_006711802.3:c.11876G=	XP_006711865.1:p.Trp3959=
XM_006711803.3:c.11873G=	XP_006711866.1:p.Trp3958=
XM_006711804.3:c.11852G=	XP_006711867.1:p.Trp3951=
XM_006711805.3:c.11846G=	XP_006711868.1:p.Trp3949=
XM_006711806.3:c.11840G=	XP_006711869.1:p.Trp3947=
XM_006711807.3:c.11816G=	XP_006711870.1:p.Trp3939=
XM_006711808.3:c.11639G=	XP_006711871.1:p.Trp3880=
XM_006711810.3:c.11783G=	XP_006711873.1:p.Trp3928=
XM_017002028.1:c.11855G=	XP_016857517.1:p.Trp3952=
NM_001035.3:c.11822G= MANE Select	NP_001026.2:p.Trp3941=