Canonical Allele Identifier: CA1141581502

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237791441C= , CM000663.2:g.237791441C=	GRCh38
NC_000001.10:g.237954741C= , CM000663.1:g.237954741C=	GRCh37
NC_000001.9:g.236021364C=	NCBI36
NG_008799.2:g.754040C=
NG_008799.3:g.754258C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*4581C=	ENSP00000499659.2:n.*4581C=
ENST00000659194.3:c.13471C=	ENSP00000499653.3:p.Arg4491=
ENST00000660292.2:c.13510C=	ENSP00000499787.2:p.Arg4504=
ENST00000659194.2:c.5660C=
ENST00000366574.7:c.13489C= MANE Select	ENSP00000355533.2:p.Arg4497=
ENST00000660292.1:c.3542C=
ENST00000360064.7:c.13438C=	ENSP00000353174.7:p.Arg4480=
ENST00000366574.6:c.13489C=	ENSP00000355533.2:p.Arg4497=
NM_001035.2:c.13489C=	NP_001026.2:p.Arg4497=
XM_006711802.2:c.13543C=	XP_006711865.1:p.Arg4515=
XM_006711803.2:c.13540C=	XP_006711866.1:p.Arg4514=
XM_006711804.2:c.13519C=	XP_006711867.1:p.Arg4507=
XM_006711805.2:c.13513C=	XP_006711868.1:p.Arg4505=
XM_006711806.2:c.13507C=	XP_006711869.1:p.Arg4503=
XM_006711807.2:c.13483C=	XP_006711870.1:p.Arg4495=
XM_006711808.2:c.13306C=	XP_006711871.1:p.Arg4436=
XM_006711810.2:c.13450C=	XP_006711873.1:p.Arg4484=
XM_006711802.3:c.13543C=	XP_006711865.1:p.Arg4515=
XM_006711803.3:c.13540C=	XP_006711866.1:p.Arg4514=
XM_006711804.3:c.13519C=	XP_006711867.1:p.Arg4507=
XM_006711805.3:c.13513C=	XP_006711868.1:p.Arg4505=
XM_006711806.3:c.13507C=	XP_006711869.1:p.Arg4503=
XM_006711807.3:c.13483C=	XP_006711870.1:p.Arg4495=
XM_006711808.3:c.13306C=	XP_006711871.1:p.Arg4436=
XM_006711810.3:c.13450C=	XP_006711873.1:p.Arg4484=
XM_017002028.1:c.13522C=	XP_016857517.1:p.Arg4508=
NM_001035.3:c.13489C= MANE Select	NP_001026.2:p.Arg4497=