Canonical Allele Identifier: CA345424450

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972301A>T (hg19) ; chr1:g.237809001A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5491A>T	ENSP00000499659.2:n.*5491A>T
ENST00000659194.3:c.14381A>T	ENSP00000499653.3:p.Asp4794Val
ENST00000660292.2:c.14420A>T	ENSP00000499787.2:p.Asp4807Val
ENST00000659194.2:c.6570A>T
ENST00000366574.7:c.14399A>T MANE Select	ENSP00000355533.2:p.Asp4800Val
ENST00000360064.7:c.14348A>T	ENSP00000353174.7:p.Asp4783Val
ENST00000366574.6:c.14399A>T	ENSP00000355533.2:p.Asp4800Val
ENST00000608590.5:n.910A>T
NM_001035.2:c.14399A>T	NP_001026.2:p.Asp4800Val
XM_006711802.2:c.14453A>T	XP_006711865.1:p.Asp4818Val
XM_006711803.2:c.14450A>T	XP_006711866.1:p.Asp4817Val
XM_006711804.2:c.14429A>T	XP_006711867.1:p.Asp4810Val
XM_006711805.2:c.14423A>T	XP_006711868.1:p.Asp4808Val
XM_006711806.2:c.14417A>T	XP_006711869.1:p.Asp4806Val
XM_006711807.2:c.14393A>T	XP_006711870.1:p.Asp4798Val
XM_006711808.2:c.14216A>T	XP_006711871.1:p.Asp4739Val
XM_006711810.2:c.14360A>T	XP_006711873.1:p.Asp4787Val
XM_006711802.3:c.14453A>T	XP_006711865.1:p.Asp4818Val
XM_006711803.3:c.14450A>T	XP_006711866.1:p.Asp4817Val
XM_006711804.3:c.14429A>T	XP_006711867.1:p.Asp4810Val
XM_006711805.3:c.14423A>T	XP_006711868.1:p.Asp4808Val
XM_006711806.3:c.14417A>T	XP_006711869.1:p.Asp4806Val
XM_006711807.3:c.14393A>T	XP_006711870.1:p.Asp4798Val
XM_006711808.3:c.14216A>T	XP_006711871.1:p.Asp4739Val
XM_006711810.3:c.14360A>T	XP_006711873.1:p.Asp4787Val
XM_017002028.1:c.14432A>T	XP_016857517.1:p.Asp4811Val
NM_001035.3:c.14399A>T MANE Select	NP_001026.2:p.Asp4800Val