Canonical Allele Identifier: CA007947

Gene: RYR2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237791480G>A , CM000663.2:g.237791480G>A	GRCh38
NC_000001.10:g.237954780G>A , CM000663.1:g.237954780G>A	GRCh37
NC_000001.9:g.236021403G>A	NCBI36
NG_008799.2:g.754079G>A
NG_008799.3:g.754297G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*4620G>A	ENSP00000499659.2:n.*4620G>A
ENST00000659194.3:c.13510G>A	ENSP00000499653.3:p.Ala4504Thr
ENST00000660292.2:c.13549G>A	ENSP00000499787.2:p.Ala4517Thr
ENST00000659194.2:c.5699G>A
ENST00000366574.7:c.13528G>A MANE Select	ENSP00000355533.2:p.Ala4510Thr
ENST00000660292.1:c.3581G>A
ENST00000360064.7:c.13477G>A	ENSP00000353174.7:p.Ala4493Thr
ENST00000366574.6:c.13528G>A	ENSP00000355533.2:p.Ala4510Thr
NM_001035.2:c.13528G>A	NP_001026.2:p.Ala4510Thr
XM_006711802.2:c.13582G>A	XP_006711865.1:p.Ala4528Thr
XM_006711803.2:c.13579G>A	XP_006711866.1:p.Ala4527Thr
XM_006711804.2:c.13558G>A	XP_006711867.1:p.Ala4520Thr
XM_006711805.2:c.13552G>A	XP_006711868.1:p.Ala4518Thr
XM_006711806.2:c.13546G>A	XP_006711869.1:p.Ala4516Thr
XM_006711807.2:c.13522G>A	XP_006711870.1:p.Ala4508Thr
XM_006711808.2:c.13345G>A	XP_006711871.1:p.Ala4449Thr
XM_006711810.2:c.13489G>A	XP_006711873.1:p.Ala4497Thr
XM_006711802.3:c.13582G>A	XP_006711865.1:p.Ala4528Thr
XM_006711803.3:c.13579G>A	XP_006711866.1:p.Ala4527Thr
XM_006711804.3:c.13558G>A	XP_006711867.1:p.Ala4520Thr
XM_006711805.3:c.13552G>A	XP_006711868.1:p.Ala4518Thr
XM_006711806.3:c.13546G>A	XP_006711869.1:p.Ala4516Thr
XM_006711807.3:c.13522G>A	XP_006711870.1:p.Ala4508Thr
XM_006711808.3:c.13345G>A	XP_006711871.1:p.Ala4449Thr
XM_006711810.3:c.13489G>A	XP_006711873.1:p.Ala4497Thr
XM_017002028.1:c.13561G>A	XP_016857517.1:p.Ala4521Thr
NM_001035.3:c.13528G>A MANE Select	NP_001026.2:p.Ala4510Thr