Canonical Allele Identifier: CA085213

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784376G>A , CM000663.2:g.237784376G>A	GRCh38
NC_000001.10:g.237947676G>A , CM000663.1:g.237947676G>A	GRCh37
NC_000001.9:g.236014299G>A	NCBI36
NG_008799.2:g.746975G>A
NG_008799.3:g.747193G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.12664G>A MANE Select	NP_001026.2:p.Glu4222Lys
ENST00000366574.7:c.12664G>A MANE Select	ENSP00000355533.2:p.Glu4222Lys
NM_001035.2:c.12664G>A	NP_001026.2:p.Glu4222Lys
ENST00000360064.7:c.12616G>A	ENSP00000353174.7:p.Glu4206Lys
ENST00000366574.6:c.12664G>A	ENSP00000355533.2:p.Glu4222Lys
ENST00000609119.1:n.3859G>A
ENST00000609119.2:c.*3756G>A	ENSP00000499659.2:n.*3756G>A
ENST00000659194.1:c.4841G>A
ENST00000659194.2:c.4841G>A
ENST00000659194.3:c.12652G>A	ENSP00000499653.3:p.Glu4218Lys
ENST00000660292.1:c.2717G>A
ENST00000660292.2:c.12685G>A	ENSP00000499787.2:p.Glu4229Lys
XM_006711802.2:c.12718G>A	XP_006711865.1:p.Glu4240Lys
XM_006711802.3:c.12718G>A	XP_006711865.1:p.Glu4240Lys
XM_006711803.2:c.12715G>A	XP_006711866.1:p.Glu4239Lys
XM_006711803.3:c.12715G>A	XP_006711866.1:p.Glu4239Lys
XM_006711804.2:c.12694G>A	XP_006711867.1:p.Glu4232Lys
XM_006711804.3:c.12694G>A	XP_006711867.1:p.Glu4232Lys
XM_006711805.2:c.12688G>A	XP_006711868.1:p.Glu4230Lys
XM_006711805.3:c.12688G>A	XP_006711868.1:p.Glu4230Lys
XM_006711806.2:c.12682G>A	XP_006711869.1:p.Glu4228Lys
XM_006711806.3:c.12682G>A	XP_006711869.1:p.Glu4228Lys
XM_006711807.2:c.12658G>A	XP_006711870.1:p.Glu4220Lys
XM_006711807.3:c.12658G>A	XP_006711870.1:p.Glu4220Lys
XM_006711808.2:c.12481G>A	XP_006711871.1:p.Glu4161Lys
XM_006711808.3:c.12481G>A	XP_006711871.1:p.Glu4161Lys
XM_006711810.2:c.12625G>A	XP_006711873.1:p.Glu4209Lys
XM_006711810.3:c.12625G>A	XP_006711873.1:p.Glu4209Lys
XM_017002028.1:c.12697G>A	XP_016857517.1:p.Glu4233Lys