Canonical Allele Identifier: CA345413856

Gene: RYR2

Linked Data

• ClinVar Variation Id: 919135
• ClinVar RCV Id: RCV001177118 ; RCV003442750 ; RCV002445418 ; RCV003153934 ; RCV004006360
• dbSNP Id: rs1323430299
• gnomAD v2: 1-237947672-A-C
• gnomAD v3: 1-237784372-A-C
• gnomAD v4: 1-237784372-A-C
• MyVariant Identifiers: chr1:g.237947672A>C (hg19) ; chr1:g.237784372A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784372A>C , CM000663.2:g.237784372A>C	GRCh38
NC_000001.10:g.237947672A>C , CM000663.1:g.237947672A>C	GRCh37
NC_000001.9:g.236014295A>C	NCBI36
NG_008799.2:g.746971A>C
NG_008799.3:g.747189A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3752A>C	ENSP00000499659.2:n.*3752A>C
ENST00000659194.3:c.12648A>C	ENSP00000499653.3:p.Glu4216Asp
ENST00000660292.2:c.12681A>C	ENSP00000499787.2:p.Glu4227Asp
ENST00000659194.2:c.4837A>C
ENST00000366574.7:c.12660A>C MANE Select	ENSP00000355533.2:p.Glu4220Asp
ENST00000659194.1:c.4837A>C
ENST00000660292.1:c.2713A>C
ENST00000360064.7:c.12612A>C	ENSP00000353174.7:p.Glu4204Asp
ENST00000366574.6:c.12660A>C	ENSP00000355533.2:p.Glu4220Asp
ENST00000609119.1:n.3855A>C
NM_001035.2:c.12660A>C	NP_001026.2:p.Glu4220Asp
XM_006711802.2:c.12714A>C	XP_006711865.1:p.Glu4238Asp
XM_006711803.2:c.12711A>C	XP_006711866.1:p.Glu4237Asp
XM_006711804.2:c.12690A>C	XP_006711867.1:p.Glu4230Asp
XM_006711805.2:c.12684A>C	XP_006711868.1:p.Glu4228Asp
XM_006711806.2:c.12678A>C	XP_006711869.1:p.Glu4226Asp
XM_006711807.2:c.12654A>C	XP_006711870.1:p.Glu4218Asp
XM_006711808.2:c.12477A>C	XP_006711871.1:p.Glu4159Asp
XM_006711810.2:c.12621A>C	XP_006711873.1:p.Glu4207Asp
XM_006711802.3:c.12714A>C	XP_006711865.1:p.Glu4238Asp
XM_006711803.3:c.12711A>C	XP_006711866.1:p.Glu4237Asp
XM_006711804.3:c.12690A>C	XP_006711867.1:p.Glu4230Asp
XM_006711805.3:c.12684A>C	XP_006711868.1:p.Glu4228Asp
XM_006711806.3:c.12678A>C	XP_006711869.1:p.Glu4226Asp
XM_006711807.3:c.12654A>C	XP_006711870.1:p.Glu4218Asp
XM_006711808.3:c.12477A>C	XP_006711871.1:p.Glu4159Asp
XM_006711810.3:c.12621A>C	XP_006711873.1:p.Glu4207Asp
XM_017002028.1:c.12693A>C	XP_016857517.1:p.Glu4231Asp
NM_001035.3:c.12660A>C MANE Select	NP_001026.2:p.Glu4220Asp