Canonical Allele Identifier: CA2487501687

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237828390T= , CM000663.2:g.237828390T=	GRCh38
NC_000001.10:g.237991690T= , CM000663.1:g.237991690T=	GRCh37
NC_000001.9:g.236058313T=	NCBI36
NG_008799.2:g.790989T=
NG_008799.3:g.791207T=

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.14600T= MANE Select	NP_001026.2:p.Ile4867=
ENST00000366574.7:c.14600T= MANE Select	ENSP00000355533.2:p.Ile4867=
NM_001035.2:c.14600T=	NP_001026.2:p.Ile4867=
ENST00000360064.7:c.14549T=	ENSP00000353174.7:p.Ile4850=
ENST00000366574.6:c.14600T=	ENSP00000355533.2:p.Ile4867=
ENST00000608590.5:n.1111T=
ENST00000609119.2:c.*5692T=	ENSP00000499659.2:n.*5692T=
ENST00000659194.2:c.6771T=
ENST00000659194.3:c.14582T=	ENSP00000499653.3:p.Ile4861=
ENST00000660292.2:c.14621T=	ENSP00000499787.2:p.Ile4874=
XM_006711802.2:c.14654T=	XP_006711865.1:p.Ile4885=
XM_006711802.3:c.14654T=	XP_006711865.1:p.Ile4885=
XM_006711803.2:c.14651T=	XP_006711866.1:p.Ile4884=
XM_006711803.3:c.14651T=	XP_006711866.1:p.Ile4884=
XM_006711804.2:c.14630T=	XP_006711867.1:p.Ile4877=
XM_006711804.3:c.14630T=	XP_006711867.1:p.Ile4877=
XM_006711805.2:c.14624T=	XP_006711868.1:p.Ile4875=
XM_006711805.3:c.14624T=	XP_006711868.1:p.Ile4875=
XM_006711806.2:c.14618T=	XP_006711869.1:p.Ile4873=
XM_006711806.3:c.14618T=	XP_006711869.1:p.Ile4873=
XM_006711807.2:c.14594T=	XP_006711870.1:p.Ile4865=
XM_006711807.3:c.14594T=	XP_006711870.1:p.Ile4865=
XM_006711808.2:c.14417T=	XP_006711871.1:p.Ile4806=
XM_006711808.3:c.14417T=	XP_006711871.1:p.Ile4806=
XM_006711810.2:c.14561T=	XP_006711873.1:p.Ile4854=
XM_006711810.3:c.14561T=	XP_006711873.1:p.Ile4854=
XM_017002028.1:c.14633T=	XP_016857517.1:p.Ile4878=