Canonical Allele Identifier: CA007352

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.237783871G>A , CM000663.2:g.237783871G>A	GRCh38
NC_000001.10:g.237947171G>A , CM000663.1:g.237947171G>A	GRCh37
NC_000001.9:g.236013794G>A	NCBI36
NG_008799.2:g.746470G>A
NG_008799.3:g.746688G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3251G>A	ENSP00000499659.2:n.*3251G>A
ENST00000659194.3:c.12147G>A	ENSP00000499653.3:p.Glu4049=
ENST00000660292.2:c.12180G>A	ENSP00000499787.2:p.Glu4060=
ENST00000659194.2:c.4336G>A
ENST00000366574.7:c.12159G>A MANE Select	ENSP00000355533.2:p.Glu4053=
ENST00000659194.1:c.4336G>A
ENST00000660292.1:c.2212G>A
ENST00000360064.7:c.12111G>A	ENSP00000353174.7:p.Glu4037=
ENST00000366574.6:c.12159G>A	ENSP00000355533.2:p.Glu4053=
ENST00000609119.1:n.3354G>A
NM_001035.2:c.12159G>A	NP_001026.2:p.Glu4053=
XM_006711802.2:c.12213G>A	XP_006711865.1:p.Glu4071=
XM_006711803.2:c.12210G>A	XP_006711866.1:p.Glu4070=
XM_006711804.2:c.12189G>A	XP_006711867.1:p.Glu4063=
XM_006711805.2:c.12183G>A	XP_006711868.1:p.Glu4061=
XM_006711806.2:c.12177G>A	XP_006711869.1:p.Glu4059=
XM_006711807.2:c.12153G>A	XP_006711870.1:p.Glu4051=
XM_006711808.2:c.11976G>A	XP_006711871.1:p.Glu3992=
XM_006711810.2:c.12120G>A	XP_006711873.1:p.Glu4040=
XM_006711802.3:c.12213G>A	XP_006711865.1:p.Glu4071=
XM_006711803.3:c.12210G>A	XP_006711866.1:p.Glu4070=
XM_006711804.3:c.12189G>A	XP_006711867.1:p.Glu4063=
XM_006711805.3:c.12183G>A	XP_006711868.1:p.Glu4061=
XM_006711806.3:c.12177G>A	XP_006711869.1:p.Glu4059=
XM_006711807.3:c.12153G>A	XP_006711870.1:p.Glu4051=
XM_006711808.3:c.11976G>A	XP_006711871.1:p.Glu3992=
XM_006711810.3:c.12120G>A	XP_006711873.1:p.Glu4040=
XM_017002028.1:c.12192G>A	XP_016857517.1:p.Glu4064=
NM_001035.3:c.12159G>A MANE Select	NP_001026.2:p.Glu4053=