Canonical Allele Identifier: CA2487482389

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784113G= , CM000663.2:g.237784113G=	GRCh38
NC_000001.10:g.237947413G= , CM000663.1:g.237947413G=	GRCh37
NC_000001.9:g.236014036G=	NCBI36
NG_008799.2:g.746712G=
NG_008799.3:g.746930G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3493G=	ENSP00000499659.2:n.*3493G=
ENST00000659194.3:c.12389G=	ENSP00000499653.3:p.Gly4130=
ENST00000660292.2:c.12422G=	ENSP00000499787.2:p.Gly4141=
ENST00000659194.2:c.4578G=
ENST00000366574.7:c.12401G= MANE Select	ENSP00000355533.2:p.Gly4134=
ENST00000659194.1:c.4578G=
ENST00000660292.1:c.2454G=
ENST00000360064.7:c.12353G=	ENSP00000353174.7:p.Gly4118=
ENST00000366574.6:c.12401G=	ENSP00000355533.2:p.Gly4134=
ENST00000609119.1:n.3596G=
NM_001035.2:c.12401G=	NP_001026.2:p.Gly4134=
XM_006711802.2:c.12455G=	XP_006711865.1:p.Gly4152=
XM_006711803.2:c.12452G=	XP_006711866.1:p.Gly4151=
XM_006711804.2:c.12431G=	XP_006711867.1:p.Gly4144=
XM_006711805.2:c.12425G=	XP_006711868.1:p.Gly4142=
XM_006711806.2:c.12419G=	XP_006711869.1:p.Gly4140=
XM_006711807.2:c.12395G=	XP_006711870.1:p.Gly4132=
XM_006711808.2:c.12218G=	XP_006711871.1:p.Gly4073=
XM_006711810.2:c.12362G=	XP_006711873.1:p.Gly4121=
XM_006711802.3:c.12455G=	XP_006711865.1:p.Gly4152=
XM_006711803.3:c.12452G=	XP_006711866.1:p.Gly4151=
XM_006711804.3:c.12431G=	XP_006711867.1:p.Gly4144=
XM_006711805.3:c.12425G=	XP_006711868.1:p.Gly4142=
XM_006711806.3:c.12419G=	XP_006711869.1:p.Gly4140=
XM_006711807.3:c.12395G=	XP_006711870.1:p.Gly4132=
XM_006711808.3:c.12218G=	XP_006711871.1:p.Gly4073=
XM_006711810.3:c.12362G=	XP_006711873.1:p.Gly4121=
XM_017002028.1:c.12434G=	XP_016857517.1:p.Gly4145=
NM_001035.3:c.12401G= MANE Select	NP_001026.2:p.Gly4134=