Canonical Allele Identifier: CA204285

Gene: RYR2

Linked Data

• ClinVar Variation Id: 207953
• ClinVar RCV Id: RCV000190233
• dbSNP Id: rs796052206
• MyVariant Identifiers: chr1:g.237947450G>C (hg19) ; chr1:g.237784150G>C (hg38)
• PubMed: PMID:26132555

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784150G>C , CM000663.2:g.237784150G>C	GRCh38
NC_000001.10:g.237947450G>C , CM000663.1:g.237947450G>C	GRCh37
NC_000001.9:g.236014073G>C	NCBI36
NG_008799.2:g.746749G>C
NG_008799.3:g.746967G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3530G>C	ENSP00000499659.2:n.*3530G>C
ENST00000659194.3:c.12426G>C	ENSP00000499653.3:p.Glu4142Asp
ENST00000660292.2:c.12459G>C	ENSP00000499787.2:p.Glu4153Asp
ENST00000659194.2:c.4615G>C
ENST00000366574.7:c.12438G>C MANE Select	ENSP00000355533.2:p.Glu4146Asp
ENST00000659194.1:c.4615G>C
ENST00000660292.1:c.2491G>C
ENST00000360064.7:c.12390G>C	ENSP00000353174.7:p.Glu4130Asp
ENST00000366574.6:c.12438G>C	ENSP00000355533.2:p.Glu4146Asp
ENST00000609119.1:n.3633G>C
NM_001035.2:c.12438G>C	NP_001026.2:p.Glu4146Asp
XM_006711802.2:c.12492G>C	XP_006711865.1:p.Glu4164Asp
XM_006711803.2:c.12489G>C	XP_006711866.1:p.Glu4163Asp
XM_006711804.2:c.12468G>C	XP_006711867.1:p.Glu4156Asp
XM_006711805.2:c.12462G>C	XP_006711868.1:p.Glu4154Asp
XM_006711806.2:c.12456G>C	XP_006711869.1:p.Glu4152Asp
XM_006711807.2:c.12432G>C	XP_006711870.1:p.Glu4144Asp
XM_006711808.2:c.12255G>C	XP_006711871.1:p.Glu4085Asp
XM_006711810.2:c.12399G>C	XP_006711873.1:p.Glu4133Asp
XM_006711802.3:c.12492G>C	XP_006711865.1:p.Glu4164Asp
XM_006711803.3:c.12489G>C	XP_006711866.1:p.Glu4163Asp
XM_006711804.3:c.12468G>C	XP_006711867.1:p.Glu4156Asp
XM_006711805.3:c.12462G>C	XP_006711868.1:p.Glu4154Asp
XM_006711806.3:c.12456G>C	XP_006711869.1:p.Glu4152Asp
XM_006711807.3:c.12432G>C	XP_006711870.1:p.Glu4144Asp
XM_006711808.3:c.12255G>C	XP_006711871.1:p.Glu4085Asp
XM_006711810.3:c.12399G>C	XP_006711873.1:p.Glu4133Asp
XM_017002028.1:c.12471G>C	XP_016857517.1:p.Glu4157Asp
NM_001035.3:c.12438G>C MANE Select	NP_001026.2:p.Glu4146Asp