Canonical Allele Identifier: CA2487482408

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784158A= , CM000663.2:g.237784158A=	GRCh38
NC_000001.10:g.237947458A= , CM000663.1:g.237947458A=	GRCh37
NC_000001.9:g.236014081A=	NCBI36
NG_008799.2:g.746757A=
NG_008799.3:g.746975A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3538A=	ENSP00000499659.2:n.*3538A=
ENST00000659194.3:c.12434A=	ENSP00000499653.3:p.Tyr4145=
ENST00000660292.2:c.12467A=	ENSP00000499787.2:p.Tyr4156=
ENST00000659194.2:c.4623A=
ENST00000366574.7:c.12446A= MANE Select	ENSP00000355533.2:p.Tyr4149=
ENST00000659194.1:c.4623A=
ENST00000660292.1:c.2499A=
ENST00000360064.7:c.12398A=	ENSP00000353174.7:p.Tyr4133=
ENST00000366574.6:c.12446A=	ENSP00000355533.2:p.Tyr4149=
ENST00000609119.1:n.3641A=
NM_001035.2:c.12446A=	NP_001026.2:p.Tyr4149=
XM_006711802.2:c.12500A=	XP_006711865.1:p.Tyr4167=
XM_006711803.2:c.12497A=	XP_006711866.1:p.Tyr4166=
XM_006711804.2:c.12476A=	XP_006711867.1:p.Tyr4159=
XM_006711805.2:c.12470A=	XP_006711868.1:p.Tyr4157=
XM_006711806.2:c.12464A=	XP_006711869.1:p.Tyr4155=
XM_006711807.2:c.12440A=	XP_006711870.1:p.Tyr4147=
XM_006711808.2:c.12263A=	XP_006711871.1:p.Tyr4088=
XM_006711810.2:c.12407A=	XP_006711873.1:p.Tyr4136=
XM_006711802.3:c.12500A=	XP_006711865.1:p.Tyr4167=
XM_006711803.3:c.12497A=	XP_006711866.1:p.Tyr4166=
XM_006711804.3:c.12476A=	XP_006711867.1:p.Tyr4159=
XM_006711805.3:c.12470A=	XP_006711868.1:p.Tyr4157=
XM_006711806.3:c.12464A=	XP_006711869.1:p.Tyr4155=
XM_006711807.3:c.12440A=	XP_006711870.1:p.Tyr4147=
XM_006711808.3:c.12263A=	XP_006711871.1:p.Tyr4088=
XM_006711810.3:c.12407A=	XP_006711873.1:p.Tyr4136=
XM_017002028.1:c.12479A=	XP_016857517.1:p.Tyr4160=
NM_001035.3:c.12446A= MANE Select	NP_001026.2:p.Tyr4149=