Canonical Allele Identifier: CA345413465

Gene: RYR2

Linked Data

• COSMIC: COSM5695493 ; COSM5695494
• MyVariant Identifiers: chr1:g.237947504G>T (hg19) ; chr1:g.237784204G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784204G>T , CM000663.2:g.237784204G>T	GRCh38
NC_000001.10:g.237947504G>T , CM000663.1:g.237947504G>T	GRCh37
NC_000001.9:g.236014127G>T	NCBI36
NG_008799.2:g.746803G>T
NG_008799.3:g.747021G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3584G>T	ENSP00000499659.2:n.*3584G>T
ENST00000659194.3:c.12480G>T	ENSP00000499653.3:p.Gln4160His
ENST00000660292.2:c.12513G>T	ENSP00000499787.2:p.Gln4171His
ENST00000659194.2:c.4669G>T
ENST00000366574.7:c.12492G>T MANE Select	ENSP00000355533.2:p.Gln4164His
ENST00000659194.1:c.4669G>T
ENST00000660292.1:c.2545G>T
ENST00000360064.7:c.12444G>T	ENSP00000353174.7:p.Gln4148His
ENST00000366574.6:c.12492G>T	ENSP00000355533.2:p.Gln4164His
ENST00000609119.1:n.3687G>T
NM_001035.2:c.12492G>T	NP_001026.2:p.Gln4164His
XM_006711802.2:c.12546G>T	XP_006711865.1:p.Gln4182His
XM_006711803.2:c.12543G>T	XP_006711866.1:p.Gln4181His
XM_006711804.2:c.12522G>T	XP_006711867.1:p.Gln4174His
XM_006711805.2:c.12516G>T	XP_006711868.1:p.Gln4172His
XM_006711806.2:c.12510G>T	XP_006711869.1:p.Gln4170His
XM_006711807.2:c.12486G>T	XP_006711870.1:p.Gln4162His
XM_006711808.2:c.12309G>T	XP_006711871.1:p.Gln4103His
XM_006711810.2:c.12453G>T	XP_006711873.1:p.Gln4151His
XM_006711802.3:c.12546G>T	XP_006711865.1:p.Gln4182His
XM_006711803.3:c.12543G>T	XP_006711866.1:p.Gln4181His
XM_006711804.3:c.12522G>T	XP_006711867.1:p.Gln4174His
XM_006711805.3:c.12516G>T	XP_006711868.1:p.Gln4172His
XM_006711806.3:c.12510G>T	XP_006711869.1:p.Gln4170His
XM_006711807.3:c.12486G>T	XP_006711870.1:p.Gln4162His
XM_006711808.3:c.12309G>T	XP_006711871.1:p.Gln4103His
XM_006711810.3:c.12453G>T	XP_006711873.1:p.Gln4151His
XM_017002028.1:c.12525G>T	XP_016857517.1:p.Gln4175His
NM_001035.3:c.12492G>T MANE Select	NP_001026.2:p.Gln4164His