Canonical Allele Identifier: CA424032356

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947609A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784309A>G , CM000663.2:g.237784309A>G	GRCh38
NC_000001.10:g.237947609A>G , CM000663.1:g.237947609A>G	GRCh37
NC_000001.9:g.236014232A>G	NCBI36
NG_008799.2:g.746908A>G
NG_008799.3:g.747126A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3689A>G	ENSP00000499659.2:n.*3689A>G
ENST00000659194.3:c.12585A>G	ENSP00000499653.3:p.Glu4195=
ENST00000660292.2:c.12618A>G	ENSP00000499787.2:p.Glu4206=
ENST00000659194.2:c.4774A>G
ENST00000366574.7:c.12597A>G MANE Select	ENSP00000355533.2:p.Glu4199=
ENST00000659194.1:c.4774A>G
ENST00000660292.1:c.2650A>G
ENST00000360064.7:c.12549A>G	ENSP00000353174.7:p.Glu4183=
ENST00000366574.6:c.12597A>G	ENSP00000355533.2:p.Glu4199=
ENST00000609119.1:n.3792A>G
NM_001035.2:c.12597A>G	NP_001026.2:p.Glu4199=
XM_006711802.2:c.12651A>G	XP_006711865.1:p.Glu4217=
XM_006711803.2:c.12648A>G	XP_006711866.1:p.Glu4216=
XM_006711804.2:c.12627A>G	XP_006711867.1:p.Glu4209=
XM_006711805.2:c.12621A>G	XP_006711868.1:p.Glu4207=
XM_006711806.2:c.12615A>G	XP_006711869.1:p.Glu4205=
XM_006711807.2:c.12591A>G	XP_006711870.1:p.Glu4197=
XM_006711808.2:c.12414A>G	XP_006711871.1:p.Glu4138=
XM_006711810.2:c.12558A>G	XP_006711873.1:p.Glu4186=
XM_006711802.3:c.12651A>G	XP_006711865.1:p.Glu4217=
XM_006711803.3:c.12648A>G	XP_006711866.1:p.Glu4216=
XM_006711804.3:c.12627A>G	XP_006711867.1:p.Glu4209=
XM_006711805.3:c.12621A>G	XP_006711868.1:p.Glu4207=
XM_006711806.3:c.12615A>G	XP_006711869.1:p.Glu4205=
XM_006711807.3:c.12591A>G	XP_006711870.1:p.Glu4197=
XM_006711808.3:c.12414A>G	XP_006711871.1:p.Glu4138=
XM_006711810.3:c.12558A>G	XP_006711873.1:p.Glu4186=
XM_017002028.1:c.12630A>G	XP_016857517.1:p.Glu4210=
NM_001035.3:c.12597A>G MANE Select	NP_001026.2:p.Glu4199=