Canonical Allele Identifier: CA008183

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237806152G>A , CM000663.2:g.237806152G>A	GRCh38
NC_000001.10:g.237969452G>A , CM000663.1:g.237969452G>A	GRCh37
NC_000001.9:g.236036075G>A	NCBI36
NG_008799.2:g.768751G>A
NG_008799.3:g.768969G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5259G>A	ENSP00000499659.2:n.*5259G>A
ENST00000659194.3:c.14149G>A	ENSP00000499653.3:p.Ala4717Thr
ENST00000660292.2:c.14188G>A	ENSP00000499787.2:p.Ala4730Thr
ENST00000659194.2:c.6338G>A
ENST00000366574.7:c.14167G>A MANE Select	ENSP00000355533.2:p.Ala4723Thr
ENST00000360064.7:c.14116G>A	ENSP00000353174.7:p.Ala4706Thr
ENST00000366574.6:c.14167G>A	ENSP00000355533.2:p.Ala4723Thr
ENST00000608590.5:n.678G>A
NM_001035.2:c.14167G>A	NP_001026.2:p.Ala4723Thr
XM_006711802.2:c.14221G>A	XP_006711865.1:p.Ala4741Thr
XM_006711803.2:c.14218G>A	XP_006711866.1:p.Ala4740Thr
XM_006711804.2:c.14197G>A	XP_006711867.1:p.Ala4733Thr
XM_006711805.2:c.14191G>A	XP_006711868.1:p.Ala4731Thr
XM_006711806.2:c.14185G>A	XP_006711869.1:p.Ala4729Thr
XM_006711807.2:c.14161G>A	XP_006711870.1:p.Ala4721Thr
XM_006711808.2:c.13984G>A	XP_006711871.1:p.Ala4662Thr
XM_006711810.2:c.14128G>A	XP_006711873.1:p.Ala4710Thr
XM_006711802.3:c.14221G>A	XP_006711865.1:p.Ala4741Thr
XM_006711803.3:c.14218G>A	XP_006711866.1:p.Ala4740Thr
XM_006711804.3:c.14197G>A	XP_006711867.1:p.Ala4733Thr
XM_006711805.3:c.14191G>A	XP_006711868.1:p.Ala4731Thr
XM_006711806.3:c.14185G>A	XP_006711869.1:p.Ala4729Thr
XM_006711807.3:c.14161G>A	XP_006711870.1:p.Ala4721Thr
XM_006711808.3:c.13984G>A	XP_006711871.1:p.Ala4662Thr
XM_006711810.3:c.14128G>A	XP_006711873.1:p.Ala4710Thr
XM_017002028.1:c.14200G>A	XP_016857517.1:p.Ala4734Thr
NM_001035.3:c.14167G>A MANE Select	NP_001026.2:p.Ala4723Thr