Canonical Allele Identifier: CA2487493414

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809033A= , CM000663.2:g.237809033A=	GRCh38
NC_000001.10:g.237972333A= , CM000663.1:g.237972333A=	GRCh37
NC_000001.9:g.236038956A=	NCBI36
NG_008799.2:g.771632A=
NG_008799.3:g.771850A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5523A=	ENSP00000499659.2:n.*5523A=
ENST00000659194.3:c.14413A=	ENSP00000499653.3:p.Thr4805=
ENST00000660292.2:c.14452A=	ENSP00000499787.2:p.Thr4818=
ENST00000659194.2:c.6602A=
ENST00000366574.7:c.14431A= MANE Select	ENSP00000355533.2:p.Thr4811=
ENST00000360064.7:c.14380A=	ENSP00000353174.7:p.Thr4794=
ENST00000366574.6:c.14431A=	ENSP00000355533.2:p.Thr4811=
ENST00000608590.5:n.942A=
NM_001035.2:c.14431A=	NP_001026.2:p.Thr4811=
XM_006711802.2:c.14485A=	XP_006711865.1:p.Thr4829=
XM_006711803.2:c.14482A=	XP_006711866.1:p.Thr4828=
XM_006711804.2:c.14461A=	XP_006711867.1:p.Thr4821=
XM_006711805.2:c.14455A=	XP_006711868.1:p.Thr4819=
XM_006711806.2:c.14449A=	XP_006711869.1:p.Thr4817=
XM_006711807.2:c.14425A=	XP_006711870.1:p.Thr4809=
XM_006711808.2:c.14248A=	XP_006711871.1:p.Thr4750=
XM_006711810.2:c.14392A=	XP_006711873.1:p.Thr4798=
XM_006711802.3:c.14485A=	XP_006711865.1:p.Thr4829=
XM_006711803.3:c.14482A=	XP_006711866.1:p.Thr4828=
XM_006711804.3:c.14461A=	XP_006711867.1:p.Thr4821=
XM_006711805.3:c.14455A=	XP_006711868.1:p.Thr4819=
XM_006711806.3:c.14449A=	XP_006711869.1:p.Thr4817=
XM_006711807.3:c.14425A=	XP_006711870.1:p.Thr4809=
XM_006711808.3:c.14248A=	XP_006711871.1:p.Thr4750=
XM_006711810.3:c.14392A=	XP_006711873.1:p.Thr4798=
XM_017002028.1:c.14464A=	XP_016857517.1:p.Thr4822=
NM_001035.3:c.14431A= MANE Select	NP_001026.2:p.Thr4811=