Canonical Allele Identifier: CA345413304

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947462T>G (hg19) ; chr1:g.237784162T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784162T>G , CM000663.2:g.237784162T>G	GRCh38
NC_000001.10:g.237947462T>G , CM000663.1:g.237947462T>G	GRCh37
NC_000001.9:g.236014085T>G	NCBI36
NG_008799.2:g.746761T>G
NG_008799.3:g.746979T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3542T>G	ENSP00000499659.2:n.*3542T>G
ENST00000659194.3:c.12438T>G	ENSP00000499653.3:p.Phe4146Leu
ENST00000660292.2:c.12471T>G	ENSP00000499787.2:p.Phe4157Leu
ENST00000659194.2:c.4627T>G
ENST00000366574.7:c.12450T>G MANE Select	ENSP00000355533.2:p.Phe4150Leu
ENST00000659194.1:c.4627T>G
ENST00000660292.1:c.2503T>G
ENST00000360064.7:c.12402T>G	ENSP00000353174.7:p.Phe4134Leu
ENST00000366574.6:c.12450T>G	ENSP00000355533.2:p.Phe4150Leu
ENST00000609119.1:n.3645T>G
NM_001035.2:c.12450T>G	NP_001026.2:p.Phe4150Leu
XM_006711802.2:c.12504T>G	XP_006711865.1:p.Phe4168Leu
XM_006711803.2:c.12501T>G	XP_006711866.1:p.Phe4167Leu
XM_006711804.2:c.12480T>G	XP_006711867.1:p.Phe4160Leu
XM_006711805.2:c.12474T>G	XP_006711868.1:p.Phe4158Leu
XM_006711806.2:c.12468T>G	XP_006711869.1:p.Phe4156Leu
XM_006711807.2:c.12444T>G	XP_006711870.1:p.Phe4148Leu
XM_006711808.2:c.12267T>G	XP_006711871.1:p.Phe4089Leu
XM_006711810.2:c.12411T>G	XP_006711873.1:p.Phe4137Leu
XM_006711802.3:c.12504T>G	XP_006711865.1:p.Phe4168Leu
XM_006711803.3:c.12501T>G	XP_006711866.1:p.Phe4167Leu
XM_006711804.3:c.12480T>G	XP_006711867.1:p.Phe4160Leu
XM_006711805.3:c.12474T>G	XP_006711868.1:p.Phe4158Leu
XM_006711806.3:c.12468T>G	XP_006711869.1:p.Phe4156Leu
XM_006711807.3:c.12444T>G	XP_006711870.1:p.Phe4148Leu
XM_006711808.3:c.12267T>G	XP_006711871.1:p.Phe4089Leu
XM_006711810.3:c.12411T>G	XP_006711873.1:p.Phe4137Leu
XM_017002028.1:c.12483T>G	XP_016857517.1:p.Phe4161Leu
NM_001035.3:c.12450T>G MANE Select	NP_001026.2:p.Phe4150Leu