Canonical Allele Identifier: CA345413310

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947464A>T (hg19) ; chr1:g.237784164A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784164A>T , CM000663.2:g.237784164A>T	GRCh38
NC_000001.10:g.237947464A>T , CM000663.1:g.237947464A>T	GRCh37
NC_000001.9:g.236014087A>T	NCBI36
NG_008799.2:g.746763A>T
NG_008799.3:g.746981A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3544A>T	ENSP00000499659.2:n.*3544A>T
ENST00000659194.3:c.12440A>T	ENSP00000499653.3:p.Glu4147Val
ENST00000660292.2:c.12473A>T	ENSP00000499787.2:p.Glu4158Val
ENST00000659194.2:c.4629A>T
ENST00000366574.7:c.12452A>T MANE Select	ENSP00000355533.2:p.Glu4151Val
ENST00000659194.1:c.4629A>T
ENST00000660292.1:c.2505A>T
ENST00000360064.7:c.12404A>T	ENSP00000353174.7:p.Glu4135Val
ENST00000366574.6:c.12452A>T	ENSP00000355533.2:p.Glu4151Val
ENST00000609119.1:n.3647A>T
NM_001035.2:c.12452A>T	NP_001026.2:p.Glu4151Val
XM_006711802.2:c.12506A>T	XP_006711865.1:p.Glu4169Val
XM_006711803.2:c.12503A>T	XP_006711866.1:p.Glu4168Val
XM_006711804.2:c.12482A>T	XP_006711867.1:p.Glu4161Val
XM_006711805.2:c.12476A>T	XP_006711868.1:p.Glu4159Val
XM_006711806.2:c.12470A>T	XP_006711869.1:p.Glu4157Val
XM_006711807.2:c.12446A>T	XP_006711870.1:p.Glu4149Val
XM_006711808.2:c.12269A>T	XP_006711871.1:p.Glu4090Val
XM_006711810.2:c.12413A>T	XP_006711873.1:p.Glu4138Val
XM_006711802.3:c.12506A>T	XP_006711865.1:p.Glu4169Val
XM_006711803.3:c.12503A>T	XP_006711866.1:p.Glu4168Val
XM_006711804.3:c.12482A>T	XP_006711867.1:p.Glu4161Val
XM_006711805.3:c.12476A>T	XP_006711868.1:p.Glu4159Val
XM_006711806.3:c.12470A>T	XP_006711869.1:p.Glu4157Val
XM_006711807.3:c.12446A>T	XP_006711870.1:p.Glu4149Val
XM_006711808.3:c.12269A>T	XP_006711871.1:p.Glu4090Val
XM_006711810.3:c.12413A>T	XP_006711873.1:p.Glu4138Val
XM_017002028.1:c.12485A>T	XP_016857517.1:p.Glu4162Val
NM_001035.3:c.12452A>T MANE Select	NP_001026.2:p.Glu4151Val