Canonical Allele Identifier: CA2487482416

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784180C= , CM000663.2:g.237784180C=	GRCh38
NC_000001.10:g.237947480C= , CM000663.1:g.237947480C=	GRCh37
NC_000001.9:g.236014103C=	NCBI36
NG_008799.2:g.746779C=
NG_008799.3:g.746997C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3560C=	ENSP00000499659.2:n.*3560C=
ENST00000659194.3:c.12456C=	ENSP00000499653.3:p.Ser4152=
ENST00000660292.2:c.12489C=	ENSP00000499787.2:p.Ser4163=
ENST00000659194.2:c.4645C=
ENST00000366574.7:c.12468C= MANE Select	ENSP00000355533.2:p.Ser4156=
ENST00000659194.1:c.4645C=
ENST00000660292.1:c.2521C=
ENST00000360064.7:c.12420C=	ENSP00000353174.7:p.Ser4140=
ENST00000366574.6:c.12468C=	ENSP00000355533.2:p.Ser4156=
ENST00000609119.1:n.3663C=
NM_001035.2:c.12468C=	NP_001026.2:p.Ser4156=
XM_006711802.2:c.12522C=	XP_006711865.1:p.Ser4174=
XM_006711803.2:c.12519C=	XP_006711866.1:p.Ser4173=
XM_006711804.2:c.12498C=	XP_006711867.1:p.Ser4166=
XM_006711805.2:c.12492C=	XP_006711868.1:p.Ser4164=
XM_006711806.2:c.12486C=	XP_006711869.1:p.Ser4162=
XM_006711807.2:c.12462C=	XP_006711870.1:p.Ser4154=
XM_006711808.2:c.12285C=	XP_006711871.1:p.Ser4095=
XM_006711810.2:c.12429C=	XP_006711873.1:p.Ser4143=
XM_006711802.3:c.12522C=	XP_006711865.1:p.Ser4174=
XM_006711803.3:c.12519C=	XP_006711866.1:p.Ser4173=
XM_006711804.3:c.12498C=	XP_006711867.1:p.Ser4166=
XM_006711805.3:c.12492C=	XP_006711868.1:p.Ser4164=
XM_006711806.3:c.12486C=	XP_006711869.1:p.Ser4162=
XM_006711807.3:c.12462C=	XP_006711870.1:p.Ser4154=
XM_006711808.3:c.12285C=	XP_006711871.1:p.Ser4095=
XM_006711810.3:c.12429C=	XP_006711873.1:p.Ser4143=
XM_017002028.1:c.12501C=	XP_016857517.1:p.Ser4167=
NM_001035.3:c.12468C= MANE Select	NP_001026.2:p.Ser4156=