Canonical Allele Identifier: CA068264

Gene: RYR2

Linked Data

• COSMIC: COSM4791818 ; COSM4791819
• MyVariant Identifiers: chr1:g.237972301A>G (hg19) ; chr1:g.237809001A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809001A>G , CM000663.2:g.237809001A>G	GRCh38
NC_000001.10:g.237972301A>G , CM000663.1:g.237972301A>G	GRCh37
NC_000001.9:g.236038924A>G	NCBI36
NG_008799.2:g.771600A>G
NG_008799.3:g.771818A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5491A>G	ENSP00000499659.2:n.*5491A>G
ENST00000659194.3:c.14381A>G	ENSP00000499653.3:p.Asp4794Gly
ENST00000660292.2:c.14420A>G	ENSP00000499787.2:p.Asp4807Gly
ENST00000659194.2:c.6570A>G
ENST00000366574.7:c.14399A>G MANE Select	ENSP00000355533.2:p.Asp4800Gly
ENST00000360064.7:c.14348A>G	ENSP00000353174.7:p.Asp4783Gly
ENST00000366574.6:c.14399A>G	ENSP00000355533.2:p.Asp4800Gly
ENST00000608590.5:n.910A>G
NM_001035.2:c.14399A>G	NP_001026.2:p.Asp4800Gly
XM_006711802.2:c.14453A>G	XP_006711865.1:p.Asp4818Gly
XM_006711803.2:c.14450A>G	XP_006711866.1:p.Asp4817Gly
XM_006711804.2:c.14429A>G	XP_006711867.1:p.Asp4810Gly
XM_006711805.2:c.14423A>G	XP_006711868.1:p.Asp4808Gly
XM_006711806.2:c.14417A>G	XP_006711869.1:p.Asp4806Gly
XM_006711807.2:c.14393A>G	XP_006711870.1:p.Asp4798Gly
XM_006711808.2:c.14216A>G	XP_006711871.1:p.Asp4739Gly
XM_006711810.2:c.14360A>G	XP_006711873.1:p.Asp4787Gly
XM_006711802.3:c.14453A>G	XP_006711865.1:p.Asp4818Gly
XM_006711803.3:c.14450A>G	XP_006711866.1:p.Asp4817Gly
XM_006711804.3:c.14429A>G	XP_006711867.1:p.Asp4810Gly
XM_006711805.3:c.14423A>G	XP_006711868.1:p.Asp4808Gly
XM_006711806.3:c.14417A>G	XP_006711869.1:p.Asp4806Gly
XM_006711807.3:c.14393A>G	XP_006711870.1:p.Asp4798Gly
XM_006711808.3:c.14216A>G	XP_006711871.1:p.Asp4739Gly
XM_006711810.3:c.14360A>G	XP_006711873.1:p.Asp4787Gly
XM_017002028.1:c.14432A>G	XP_016857517.1:p.Asp4811Gly
NM_001035.3:c.14399A>G MANE Select	NP_001026.2:p.Asp4800Gly