Canonical Allele Identifier: CA2487482320

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237783946C= , CM000663.2:g.237783946C=	GRCh38
NC_000001.10:g.237947246C= , CM000663.1:g.237947246C=	GRCh37
NC_000001.9:g.236013869C=	NCBI36
NG_008799.2:g.746545C=
NG_008799.3:g.746763C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.12234C= MANE Select	NP_001026.2:p.Leu4078=
ENST00000366574.7:c.12234C= MANE Select	ENSP00000355533.2:p.Leu4078=
NM_001035.2:c.12234C=	NP_001026.2:p.Leu4078=
ENST00000360064.7:c.12186C=	ENSP00000353174.7:p.Leu4062=
ENST00000366574.6:c.12234C=	ENSP00000355533.2:p.Leu4078=
ENST00000609119.1:n.3429C=
ENST00000609119.2:c.*3326C=	ENSP00000499659.2:n.*3326C=
ENST00000659194.1:c.4411C=
ENST00000659194.2:c.4411C=
ENST00000659194.3:c.12222C=	ENSP00000499653.3:p.Leu4074=
ENST00000660292.1:c.2287C=
ENST00000660292.2:c.12255C=	ENSP00000499787.2:p.Leu4085=
XM_006711802.2:c.12288C=	XP_006711865.1:p.Leu4096=
XM_006711802.3:c.12288C=	XP_006711865.1:p.Leu4096=
XM_006711803.2:c.12285C=	XP_006711866.1:p.Leu4095=
XM_006711803.3:c.12285C=	XP_006711866.1:p.Leu4095=
XM_006711804.2:c.12264C=	XP_006711867.1:p.Leu4088=
XM_006711804.3:c.12264C=	XP_006711867.1:p.Leu4088=
XM_006711805.2:c.12258C=	XP_006711868.1:p.Leu4086=
XM_006711805.3:c.12258C=	XP_006711868.1:p.Leu4086=
XM_006711806.2:c.12252C=	XP_006711869.1:p.Leu4084=
XM_006711806.3:c.12252C=	XP_006711869.1:p.Leu4084=
XM_006711807.2:c.12228C=	XP_006711870.1:p.Leu4076=
XM_006711807.3:c.12228C=	XP_006711870.1:p.Leu4076=
XM_006711808.2:c.12051C=	XP_006711871.1:p.Leu4017=
XM_006711808.3:c.12051C=	XP_006711871.1:p.Leu4017=
XM_006711810.2:c.12195C=	XP_006711873.1:p.Leu4065=
XM_006711810.3:c.12195C=	XP_006711873.1:p.Leu4065=
XM_017002028.1:c.12267C=	XP_016857517.1:p.Leu4089=