Canonical Allele Identifier: CA345413029

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947364T>A (hg19) ; chr1:g.237784064T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784064T>A , CM000663.2:g.237784064T>A	GRCh38
NC_000001.10:g.237947364T>A , CM000663.1:g.237947364T>A	GRCh37
NC_000001.9:g.236013987T>A	NCBI36
NG_008799.2:g.746663T>A
NG_008799.3:g.746881T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3444T>A	ENSP00000499659.2:n.*3444T>A
ENST00000659194.3:c.12340T>A	ENSP00000499653.3:p.Phe4114Ile
ENST00000660292.2:c.12373T>A	ENSP00000499787.2:p.Phe4125Ile
ENST00000659194.2:c.4529T>A
ENST00000366574.7:c.12352T>A MANE Select	ENSP00000355533.2:p.Phe4118Ile
ENST00000659194.1:c.4529T>A
ENST00000660292.1:c.2405T>A
ENST00000360064.7:c.12304T>A	ENSP00000353174.7:p.Phe4102Ile
ENST00000366574.6:c.12352T>A	ENSP00000355533.2:p.Phe4118Ile
ENST00000609119.1:n.3547T>A
NM_001035.2:c.12352T>A	NP_001026.2:p.Phe4118Ile
XM_006711802.2:c.12406T>A	XP_006711865.1:p.Phe4136Ile
XM_006711803.2:c.12403T>A	XP_006711866.1:p.Phe4135Ile
XM_006711804.2:c.12382T>A	XP_006711867.1:p.Phe4128Ile
XM_006711805.2:c.12376T>A	XP_006711868.1:p.Phe4126Ile
XM_006711806.2:c.12370T>A	XP_006711869.1:p.Phe4124Ile
XM_006711807.2:c.12346T>A	XP_006711870.1:p.Phe4116Ile
XM_006711808.2:c.12169T>A	XP_006711871.1:p.Phe4057Ile
XM_006711810.2:c.12313T>A	XP_006711873.1:p.Phe4105Ile
XM_006711802.3:c.12406T>A	XP_006711865.1:p.Phe4136Ile
XM_006711803.3:c.12403T>A	XP_006711866.1:p.Phe4135Ile
XM_006711804.3:c.12382T>A	XP_006711867.1:p.Phe4128Ile
XM_006711805.3:c.12376T>A	XP_006711868.1:p.Phe4126Ile
XM_006711806.3:c.12370T>A	XP_006711869.1:p.Phe4124Ile
XM_006711807.3:c.12346T>A	XP_006711870.1:p.Phe4116Ile
XM_006711808.3:c.12169T>A	XP_006711871.1:p.Phe4057Ile
XM_006711810.3:c.12313T>A	XP_006711873.1:p.Phe4105Ile
XM_017002028.1:c.12385T>A	XP_016857517.1:p.Phe4129Ile
NM_001035.3:c.12352T>A MANE Select	NP_001026.2:p.Phe4118Ile