Canonical Allele Identifier: CA007418

Gene: RYR2

Linked Data

• ClinVar Variation Id: 201325
• ClinVar RCV Id: RCV000190127 ; RCV002279938 ; RCV002515335
• dbSNP Id: rs794728783
• COSMIC: COSM1738522 ; COSM3307689
• MyVariant Identifiers: chr1:g.237947284C>T (hg19) ; chr1:g.237783984C>T (hg38)
• PubMed: PMID:26132555

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237783984C>T , CM000663.2:g.237783984C>T	GRCh38
NC_000001.10:g.237947284C>T , CM000663.1:g.237947284C>T	GRCh37
NC_000001.9:g.236013907C>T	NCBI36
NG_008799.2:g.746583C>T
NG_008799.3:g.746801C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3364C>T	ENSP00000499659.2:n.*3364C>T
ENST00000659194.3:c.12260C>T	ENSP00000499653.3:p.Ala4087Val
ENST00000660292.2:c.12293C>T	ENSP00000499787.2:p.Ala4098Val
ENST00000659194.2:c.4449C>T
ENST00000366574.7:c.12272C>T MANE Select	ENSP00000355533.2:p.Ala4091Val
ENST00000659194.1:c.4449C>T
ENST00000660292.1:c.2325C>T
ENST00000360064.7:c.12224C>T	ENSP00000353174.7:p.Ala4075Val
ENST00000366574.6:c.12272C>T	ENSP00000355533.2:p.Ala4091Val
ENST00000609119.1:n.3467C>T
NM_001035.2:c.12272C>T	NP_001026.2:p.Ala4091Val
XM_006711802.2:c.12326C>T	XP_006711865.1:p.Ala4109Val
XM_006711803.2:c.12323C>T	XP_006711866.1:p.Ala4108Val
XM_006711804.2:c.12302C>T	XP_006711867.1:p.Ala4101Val
XM_006711805.2:c.12296C>T	XP_006711868.1:p.Ala4099Val
XM_006711806.2:c.12290C>T	XP_006711869.1:p.Ala4097Val
XM_006711807.2:c.12266C>T	XP_006711870.1:p.Ala4089Val
XM_006711808.2:c.12089C>T	XP_006711871.1:p.Ala4030Val
XM_006711810.2:c.12233C>T	XP_006711873.1:p.Ala4078Val
XM_006711802.3:c.12326C>T	XP_006711865.1:p.Ala4109Val
XM_006711803.3:c.12323C>T	XP_006711866.1:p.Ala4108Val
XM_006711804.3:c.12302C>T	XP_006711867.1:p.Ala4101Val
XM_006711805.3:c.12296C>T	XP_006711868.1:p.Ala4099Val
XM_006711806.3:c.12290C>T	XP_006711869.1:p.Ala4097Val
XM_006711807.3:c.12266C>T	XP_006711870.1:p.Ala4089Val
XM_006711808.3:c.12089C>T	XP_006711871.1:p.Ala4030Val
XM_006711810.3:c.12233C>T	XP_006711873.1:p.Ala4078Val
XM_017002028.1:c.12305C>T	XP_016857517.1:p.Ala4102Val
NM_001035.3:c.12272C>T MANE Select	NP_001026.2:p.Ala4091Val