Canonical Allele Identifier: CA345424483

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972310A>T (hg19) ; chr1:g.237809010A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809010A>T , CM000663.2:g.237809010A>T	GRCh38
NC_000001.10:g.237972310A>T , CM000663.1:g.237972310A>T	GRCh37
NC_000001.9:g.236038933A>T	NCBI36
NG_008799.2:g.771609A>T
NG_008799.3:g.771827A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5500A>T	ENSP00000499659.2:n.*5500A>T
ENST00000659194.3:c.14390A>T	ENSP00000499653.3:p.Asp4797Val
ENST00000660292.2:c.14429A>T	ENSP00000499787.2:p.Asp4810Val
ENST00000659194.2:c.6579A>T
ENST00000366574.7:c.14408A>T MANE Select	ENSP00000355533.2:p.Asp4803Val
ENST00000360064.7:c.14357A>T	ENSP00000353174.7:p.Asp4786Val
ENST00000366574.6:c.14408A>T	ENSP00000355533.2:p.Asp4803Val
ENST00000608590.5:n.919A>T
NM_001035.2:c.14408A>T	NP_001026.2:p.Asp4803Val
XM_006711802.2:c.14462A>T	XP_006711865.1:p.Asp4821Val
XM_006711803.2:c.14459A>T	XP_006711866.1:p.Asp4820Val
XM_006711804.2:c.14438A>T	XP_006711867.1:p.Asp4813Val
XM_006711805.2:c.14432A>T	XP_006711868.1:p.Asp4811Val
XM_006711806.2:c.14426A>T	XP_006711869.1:p.Asp4809Val
XM_006711807.2:c.14402A>T	XP_006711870.1:p.Asp4801Val
XM_006711808.2:c.14225A>T	XP_006711871.1:p.Asp4742Val
XM_006711810.2:c.14369A>T	XP_006711873.1:p.Asp4790Val
XM_006711802.3:c.14462A>T	XP_006711865.1:p.Asp4821Val
XM_006711803.3:c.14459A>T	XP_006711866.1:p.Asp4820Val
XM_006711804.3:c.14438A>T	XP_006711867.1:p.Asp4813Val
XM_006711805.3:c.14432A>T	XP_006711868.1:p.Asp4811Val
XM_006711806.3:c.14426A>T	XP_006711869.1:p.Asp4809Val
XM_006711807.3:c.14402A>T	XP_006711870.1:p.Asp4801Val
XM_006711808.3:c.14225A>T	XP_006711871.1:p.Asp4742Val
XM_006711810.3:c.14369A>T	XP_006711873.1:p.Asp4790Val
XM_017002028.1:c.14441A>T	XP_016857517.1:p.Asp4814Val
NM_001035.3:c.14408A>T MANE Select	NP_001026.2:p.Asp4803Val