Canonical Allele Identifier: CA1144033630

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237783759T= , CM000663.2:g.237783759T=	GRCh38
NC_000001.10:g.237947059T= , CM000663.1:g.237947059T=	GRCh37
NC_000001.9:g.236013682T=	NCBI36
NG_008799.2:g.746358T=
NG_008799.3:g.746576T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3139T=	ENSP00000499659.2:n.*3139T=
ENST00000659194.3:c.12035T=	ENSP00000499653.3:p.Phe4012=
ENST00000660292.2:c.12068T=	ENSP00000499787.2:p.Phe4023=
ENST00000659194.2:c.4224T=
ENST00000366574.7:c.12047T= MANE Select	ENSP00000355533.2:p.Phe4016=
ENST00000659194.1:c.4224T=
ENST00000660292.1:c.2100T=
ENST00000360064.7:c.11999T=	ENSP00000353174.7:p.Phe4000=
ENST00000366574.6:c.12047T=	ENSP00000355533.2:p.Phe4016=
ENST00000609119.1:n.3242T=
NM_001035.2:c.12047T=	NP_001026.2:p.Phe4016=
XM_006711802.2:c.12101T=	XP_006711865.1:p.Phe4034=
XM_006711803.2:c.12098T=	XP_006711866.1:p.Phe4033=
XM_006711804.2:c.12077T=	XP_006711867.1:p.Phe4026=
XM_006711805.2:c.12071T=	XP_006711868.1:p.Phe4024=
XM_006711806.2:c.12065T=	XP_006711869.1:p.Phe4022=
XM_006711807.2:c.12041T=	XP_006711870.1:p.Phe4014=
XM_006711808.2:c.11864T=	XP_006711871.1:p.Phe3955=
XM_006711810.2:c.12008T=	XP_006711873.1:p.Phe4003=
XM_006711802.3:c.12101T=	XP_006711865.1:p.Phe4034=
XM_006711803.3:c.12098T=	XP_006711866.1:p.Phe4033=
XM_006711804.3:c.12077T=	XP_006711867.1:p.Phe4026=
XM_006711805.3:c.12071T=	XP_006711868.1:p.Phe4024=
XM_006711806.3:c.12065T=	XP_006711869.1:p.Phe4022=
XM_006711807.3:c.12041T=	XP_006711870.1:p.Phe4014=
XM_006711808.3:c.11864T=	XP_006711871.1:p.Phe3955=
XM_006711810.3:c.12008T=	XP_006711873.1:p.Phe4003=
XM_017002028.1:c.12080T=	XP_016857517.1:p.Phe4027=
NM_001035.3:c.12047T= MANE Select	NP_001026.2:p.Phe4016=