Canonical Allele Identifier: CA084472

Gene: RYR2

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237726283G>A , CM000663.2:g.237726283G>A	GRCh38
NC_000001.10:g.237889583G>A , CM000663.1:g.237889583G>A	GRCh37
NC_000001.9:g.235956206G>A	NCBI36
NG_008799.2:g.688882G>A
NG_008799.3:g.689100G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*1735G>A	ENSP00000499659.2:n.*1735G>A
ENST00000659194.3:c.10690-804G>A	ENSP00000499653.3:n.10690-804G>A
ENST00000660292.2:c.10690-804G>A	ENSP00000499787.2:n.10690-804G>A
ENST00000659194.2:c.2879-804G>A
ENST00000366574.7:c.10700G>A MANE Select	ENSP00000355533.2:p.Arg3567His
ENST00000659194.1:c.2879-804G>A
ENST00000660292.1:c.722-804G>A
ENST00000661330.1:c.507G>A
ENST00000360064.7:c.10652G>A	ENSP00000353174.7:p.Arg3551His
ENST00000366574.6:c.10700G>A	ENSP00000355533.2:p.Arg3567His
ENST00000609119.1:n.1838G>A
ENST00000609253.1:n.53-804G>A
NM_001035.2:c.10700G>A	NP_001026.2:p.Arg3567His
XM_006711802.2:c.10730G>A	XP_006711865.1:p.Arg3577His
XM_006711803.2:c.10727G>A	XP_006711866.1:p.Arg3576His
XM_006711804.2:c.10730G>A	XP_006711867.1:p.Arg3577His
XM_006711805.2:c.10700G>A	XP_006711868.1:p.Arg3567His
XM_006711806.2:c.10720-804G>A	XP_006711869.1:n.10720-804G>A
XM_006711807.2:c.10720-804G>A	XP_006711870.1:n.10720-804G>A
XM_006711808.2:c.10493G>A	XP_006711871.1:p.Arg3498His
XM_006711810.2:c.10687-804G>A	XP_006711873.1:n.10687-804G>A
XM_006711802.3:c.10730G>A	XP_006711865.1:p.Arg3577His
XM_006711803.3:c.10727G>A	XP_006711866.1:p.Arg3576His
XM_006711804.3:c.10730G>A	XP_006711867.1:p.Arg3577His
XM_006711805.3:c.10700G>A	XP_006711868.1:p.Arg3567His
XM_006711806.3:c.10720-804G>A	XP_006711869.1:n.10720-804G>A
XM_006711807.3:c.10720-804G>A	XP_006711870.1:n.10720-804G>A
XM_006711808.3:c.10493G>A	XP_006711871.1:p.Arg3498His
XM_006711810.3:c.10687-804G>A	XP_006711873.1:n.10687-804G>A
XM_017002028.1:c.10709G>A	XP_016857517.1:p.Arg3570His
NM_001035.3:c.10700G>A MANE Select	NP_001026.2:p.Arg3567His