Canonical Allele Identifier: CA345424568

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972325A>T (hg19) ; chr1:g.237809025A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809025A>T , CM000663.2:g.237809025A>T	GRCh38
NC_000001.10:g.237972325A>T , CM000663.1:g.237972325A>T	GRCh37
NC_000001.9:g.236038948A>T	NCBI36
NG_008799.2:g.771624A>T
NG_008799.3:g.771842A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5515A>T	ENSP00000499659.2:n.*5515A>T
ENST00000659194.3:c.14405A>T	ENSP00000499653.3:p.Asp4802Val
ENST00000660292.2:c.14444A>T	ENSP00000499787.2:p.Asp4815Val
ENST00000659194.2:c.6594A>T
ENST00000366574.7:c.14423A>T MANE Select	ENSP00000355533.2:p.Asp4808Val
ENST00000360064.7:c.14372A>T	ENSP00000353174.7:p.Asp4791Val
ENST00000366574.6:c.14423A>T	ENSP00000355533.2:p.Asp4808Val
ENST00000608590.5:n.934A>T
NM_001035.2:c.14423A>T	NP_001026.2:p.Asp4808Val
XM_006711802.2:c.14477A>T	XP_006711865.1:p.Asp4826Val
XM_006711803.2:c.14474A>T	XP_006711866.1:p.Asp4825Val
XM_006711804.2:c.14453A>T	XP_006711867.1:p.Asp4818Val
XM_006711805.2:c.14447A>T	XP_006711868.1:p.Asp4816Val
XM_006711806.2:c.14441A>T	XP_006711869.1:p.Asp4814Val
XM_006711807.2:c.14417A>T	XP_006711870.1:p.Asp4806Val
XM_006711808.2:c.14240A>T	XP_006711871.1:p.Asp4747Val
XM_006711810.2:c.14384A>T	XP_006711873.1:p.Asp4795Val
XM_006711802.3:c.14477A>T	XP_006711865.1:p.Asp4826Val
XM_006711803.3:c.14474A>T	XP_006711866.1:p.Asp4825Val
XM_006711804.3:c.14453A>T	XP_006711867.1:p.Asp4818Val
XM_006711805.3:c.14447A>T	XP_006711868.1:p.Asp4816Val
XM_006711806.3:c.14441A>T	XP_006711869.1:p.Asp4814Val
XM_006711807.3:c.14417A>T	XP_006711870.1:p.Asp4806Val
XM_006711808.3:c.14240A>T	XP_006711871.1:p.Asp4747Val
XM_006711810.3:c.14384A>T	XP_006711873.1:p.Asp4795Val
XM_017002028.1:c.14456A>T	XP_016857517.1:p.Asp4819Val
NM_001035.3:c.14423A>T MANE Select	NP_001026.2:p.Asp4808Val