Canonical Allele Identifier: CA2487482415

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784175T= , CM000663.2:g.237784175T=	GRCh38
NC_000001.10:g.237947475T= , CM000663.1:g.237947475T=	GRCh37
NC_000001.9:g.236014098T=	NCBI36
NG_008799.2:g.746774T=
NG_008799.3:g.746992T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3555T=	ENSP00000499659.2:n.*3555T=
ENST00000659194.3:c.12451T=	ENSP00000499653.3:p.Ser4151=
ENST00000660292.2:c.12484T=	ENSP00000499787.2:p.Ser4162=
ENST00000659194.2:c.4640T=
ENST00000366574.7:c.12463T= MANE Select	ENSP00000355533.2:p.Ser4155=
ENST00000659194.1:c.4640T=
ENST00000660292.1:c.2516T=
ENST00000360064.7:c.12415T=	ENSP00000353174.7:p.Ser4139=
ENST00000366574.6:c.12463T=	ENSP00000355533.2:p.Ser4155=
ENST00000609119.1:n.3658T=
NM_001035.2:c.12463T=	NP_001026.2:p.Ser4155=
XM_006711802.2:c.12517T=	XP_006711865.1:p.Ser4173=
XM_006711803.2:c.12514T=	XP_006711866.1:p.Ser4172=
XM_006711804.2:c.12493T=	XP_006711867.1:p.Ser4165=
XM_006711805.2:c.12487T=	XP_006711868.1:p.Ser4163=
XM_006711806.2:c.12481T=	XP_006711869.1:p.Ser4161=
XM_006711807.2:c.12457T=	XP_006711870.1:p.Ser4153=
XM_006711808.2:c.12280T=	XP_006711871.1:p.Ser4094=
XM_006711810.2:c.12424T=	XP_006711873.1:p.Ser4142=
XM_006711802.3:c.12517T=	XP_006711865.1:p.Ser4173=
XM_006711803.3:c.12514T=	XP_006711866.1:p.Ser4172=
XM_006711804.3:c.12493T=	XP_006711867.1:p.Ser4165=
XM_006711805.3:c.12487T=	XP_006711868.1:p.Ser4163=
XM_006711806.3:c.12481T=	XP_006711869.1:p.Ser4161=
XM_006711807.3:c.12457T=	XP_006711870.1:p.Ser4153=
XM_006711808.3:c.12280T=	XP_006711871.1:p.Ser4094=
XM_006711810.3:c.12424T=	XP_006711873.1:p.Ser4142=
XM_017002028.1:c.12496T=	XP_016857517.1:p.Ser4166=
NM_001035.3:c.12463T= MANE Select	NP_001026.2:p.Ser4155=