Canonical Allele Identifier: CA345413510

Gene: RYR2

Linked Data

• ClinVar Variation Id: 2747580
• ClinVar RCV Id: RCV003527493
• MyVariant Identifiers: chr1:g.237947523C>G (hg19) ; chr1:g.237784223C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784223C>G , CM000663.2:g.237784223C>G	GRCh38
NC_000001.10:g.237947523C>G , CM000663.1:g.237947523C>G	GRCh37
NC_000001.9:g.236014146C>G	NCBI36
NG_008799.2:g.746822C>G
NG_008799.3:g.747040C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3603C>G	ENSP00000499659.2:n.*3603C>G
ENST00000659194.3:c.12499C>G	ENSP00000499653.3:p.Gln4167Glu
ENST00000660292.2:c.12532C>G	ENSP00000499787.2:p.Gln4178Glu
ENST00000659194.2:c.4688C>G
ENST00000366574.7:c.12511C>G MANE Select	ENSP00000355533.2:p.Gln4171Glu
ENST00000659194.1:c.4688C>G
ENST00000660292.1:c.2564C>G
ENST00000360064.7:c.12463C>G	ENSP00000353174.7:p.Gln4155Glu
ENST00000366574.6:c.12511C>G	ENSP00000355533.2:p.Gln4171Glu
ENST00000609119.1:n.3706C>G
NM_001035.2:c.12511C>G	NP_001026.2:p.Gln4171Glu
XM_006711802.2:c.12565C>G	XP_006711865.1:p.Gln4189Glu
XM_006711803.2:c.12562C>G	XP_006711866.1:p.Gln4188Glu
XM_006711804.2:c.12541C>G	XP_006711867.1:p.Gln4181Glu
XM_006711805.2:c.12535C>G	XP_006711868.1:p.Gln4179Glu
XM_006711806.2:c.12529C>G	XP_006711869.1:p.Gln4177Glu
XM_006711807.2:c.12505C>G	XP_006711870.1:p.Gln4169Glu
XM_006711808.2:c.12328C>G	XP_006711871.1:p.Gln4110Glu
XM_006711810.2:c.12472C>G	XP_006711873.1:p.Gln4158Glu
XM_006711802.3:c.12565C>G	XP_006711865.1:p.Gln4189Glu
XM_006711803.3:c.12562C>G	XP_006711866.1:p.Gln4188Glu
XM_006711804.3:c.12541C>G	XP_006711867.1:p.Gln4181Glu
XM_006711805.3:c.12535C>G	XP_006711868.1:p.Gln4179Glu
XM_006711806.3:c.12529C>G	XP_006711869.1:p.Gln4177Glu
XM_006711807.3:c.12505C>G	XP_006711870.1:p.Gln4169Glu
XM_006711808.3:c.12328C>G	XP_006711871.1:p.Gln4110Glu
XM_006711810.3:c.12472C>G	XP_006711873.1:p.Gln4158Glu
XM_017002028.1:c.12544C>G	XP_016857517.1:p.Gln4182Glu
NM_001035.3:c.12511C>G MANE Select	NP_001026.2:p.Gln4171Glu