Canonical Allele Identifier: CA345413067

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947380A>T (hg19) ; chr1:g.237784080A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784080A>T , CM000663.2:g.237784080A>T	GRCh38
NC_000001.10:g.237947380A>T , CM000663.1:g.237947380A>T	GRCh37
NC_000001.9:g.236014003A>T	NCBI36
NG_008799.2:g.746679A>T
NG_008799.3:g.746897A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3460A>T	ENSP00000499659.2:n.*3460A>T
ENST00000659194.3:c.12356A>T	ENSP00000499653.3:p.Glu4119Val
ENST00000660292.2:c.12389A>T	ENSP00000499787.2:p.Glu4130Val
ENST00000659194.2:c.4545A>T
ENST00000366574.7:c.12368A>T MANE Select	ENSP00000355533.2:p.Glu4123Val
ENST00000659194.1:c.4545A>T
ENST00000660292.1:c.2421A>T
ENST00000360064.7:c.12320A>T	ENSP00000353174.7:p.Glu4107Val
ENST00000366574.6:c.12368A>T	ENSP00000355533.2:p.Glu4123Val
ENST00000609119.1:n.3563A>T
NM_001035.2:c.12368A>T	NP_001026.2:p.Glu4123Val
XM_006711802.2:c.12422A>T	XP_006711865.1:p.Glu4141Val
XM_006711803.2:c.12419A>T	XP_006711866.1:p.Glu4140Val
XM_006711804.2:c.12398A>T	XP_006711867.1:p.Glu4133Val
XM_006711805.2:c.12392A>T	XP_006711868.1:p.Glu4131Val
XM_006711806.2:c.12386A>T	XP_006711869.1:p.Glu4129Val
XM_006711807.2:c.12362A>T	XP_006711870.1:p.Glu4121Val
XM_006711808.2:c.12185A>T	XP_006711871.1:p.Glu4062Val
XM_006711810.2:c.12329A>T	XP_006711873.1:p.Glu4110Val
XM_006711802.3:c.12422A>T	XP_006711865.1:p.Glu4141Val
XM_006711803.3:c.12419A>T	XP_006711866.1:p.Glu4140Val
XM_006711804.3:c.12398A>T	XP_006711867.1:p.Glu4133Val
XM_006711805.3:c.12392A>T	XP_006711868.1:p.Glu4131Val
XM_006711806.3:c.12386A>T	XP_006711869.1:p.Glu4129Val
XM_006711807.3:c.12362A>T	XP_006711870.1:p.Glu4121Val
XM_006711808.3:c.12185A>T	XP_006711871.1:p.Glu4062Val
XM_006711810.3:c.12329A>T	XP_006711873.1:p.Glu4110Val
XM_017002028.1:c.12401A>T	XP_016857517.1:p.Glu4134Val
NM_001035.3:c.12368A>T MANE Select	NP_001026.2:p.Glu4123Val