Canonical Allele Identifier: CA007426

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.237783995G>A , CM000663.2:g.237783995G>A	GRCh38
NC_000001.10:g.237947295G>A , CM000663.1:g.237947295G>A	GRCh37
NC_000001.9:g.236013918G>A	NCBI36
NG_008799.2:g.746594G>A
NG_008799.3:g.746812G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3375G>A	ENSP00000499659.2:n.*3375G>A
ENST00000659194.3:c.12271G>A	ENSP00000499653.3:p.Gly4091Ser
ENST00000660292.2:c.12304G>A	ENSP00000499787.2:p.Gly4102Ser
ENST00000659194.2:c.4460G>A
ENST00000366574.7:c.12283G>A MANE Select	ENSP00000355533.2:p.Gly4095Ser
ENST00000659194.1:c.4460G>A
ENST00000660292.1:c.2336G>A
ENST00000360064.7:c.12235G>A	ENSP00000353174.7:p.Gly4079Ser
ENST00000366574.6:c.12283G>A	ENSP00000355533.2:p.Gly4095Ser
ENST00000609119.1:n.3478G>A
NM_001035.2:c.12283G>A	NP_001026.2:p.Gly4095Ser
XM_006711802.2:c.12337G>A	XP_006711865.1:p.Gly4113Ser
XM_006711803.2:c.12334G>A	XP_006711866.1:p.Gly4112Ser
XM_006711804.2:c.12313G>A	XP_006711867.1:p.Gly4105Ser
XM_006711805.2:c.12307G>A	XP_006711868.1:p.Gly4103Ser
XM_006711806.2:c.12301G>A	XP_006711869.1:p.Gly4101Ser
XM_006711807.2:c.12277G>A	XP_006711870.1:p.Gly4093Ser
XM_006711808.2:c.12100G>A	XP_006711871.1:p.Gly4034Ser
XM_006711810.2:c.12244G>A	XP_006711873.1:p.Gly4082Ser
XM_006711802.3:c.12337G>A	XP_006711865.1:p.Gly4113Ser
XM_006711803.3:c.12334G>A	XP_006711866.1:p.Gly4112Ser
XM_006711804.3:c.12313G>A	XP_006711867.1:p.Gly4105Ser
XM_006711805.3:c.12307G>A	XP_006711868.1:p.Gly4103Ser
XM_006711806.3:c.12301G>A	XP_006711869.1:p.Gly4101Ser
XM_006711807.3:c.12277G>A	XP_006711870.1:p.Gly4093Ser
XM_006711808.3:c.12100G>A	XP_006711871.1:p.Gly4034Ser
XM_006711810.3:c.12244G>A	XP_006711873.1:p.Gly4082Ser
XM_017002028.1:c.12316G>A	XP_016857517.1:p.Gly4106Ser
NM_001035.3:c.12283G>A MANE Select	NP_001026.2:p.Gly4095Ser