Canonical Allele Identifier: CA424031698

Gene: RYR2

Linked Data

• dbSNP Id: rs1411184454
• gnomAD v2: 1-237870376-A-G
• gnomAD v3: 1-237707076-A-G
• gnomAD v4: 1-237707076-A-G
• MyVariant Identifiers: chr1:g.237870376A>G (hg19) ; chr1:g.237707076A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237707076A>G , CM000663.2:g.237707076A>G	GRCh38
NC_000001.10:g.237870376A>G , CM000663.1:g.237870376A>G	GRCh37
NC_000001.9:g.235936999A>G	NCBI36
NG_008799.2:g.669675A>G
NG_008799.3:g.669893A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*743A>G	ENSP00000499659.2:n.*743A>G
ENST00000659194.3:c.9708A>G	ENSP00000499653.3:p.Glu3236=
ENST00000660292.2:c.9708A>G	ENSP00000499787.2:p.Glu3236=
ENST00000659194.2:c.1897A>G
ENST00000366574.7:c.9708A>G MANE Select	ENSP00000355533.2:p.Glu3236=
ENST00000659194.1:c.1897A>G
ENST00000360064.7:c.9660A>G	ENSP00000353174.7:p.Glu3220=
ENST00000366574.6:c.9708A>G	ENSP00000355533.2:p.Glu3236=
ENST00000609119.1:n.846A>G
NM_001035.2:c.9708A>G	NP_001026.2:p.Glu3236=
XM_006711802.2:c.9738A>G	XP_006711865.1:p.Glu3246=
XM_006711803.2:c.9735A>G	XP_006711866.1:p.Glu3245=
XM_006711804.2:c.9738A>G	XP_006711867.1:p.Glu3246=
XM_006711805.2:c.9708A>G	XP_006711868.1:p.Glu3236=
XM_006711806.2:c.9738A>G	XP_006711869.1:p.Glu3246=
XM_006711807.2:c.9738A>G	XP_006711870.1:p.Glu3246=
XM_006711808.2:c.9501A>G	XP_006711871.1:p.Glu3167=
XM_006711810.2:c.9705A>G	XP_006711873.1:p.Glu3235=
XM_006711802.3:c.9738A>G	XP_006711865.1:p.Glu3246=
XM_006711803.3:c.9735A>G	XP_006711866.1:p.Glu3245=
XM_006711804.3:c.9738A>G	XP_006711867.1:p.Glu3246=
XM_006711805.3:c.9708A>G	XP_006711868.1:p.Glu3236=
XM_006711806.3:c.9738A>G	XP_006711869.1:p.Glu3246=
XM_006711807.3:c.9738A>G	XP_006711870.1:p.Glu3246=
XM_006711808.3:c.9501A>G	XP_006711871.1:p.Glu3167=
XM_006711810.3:c.9705A>G	XP_006711873.1:p.Glu3235=
XM_017002028.1:c.9717A>G	XP_016857517.1:p.Glu3239=
NM_001035.3:c.9708A>G MANE Select	NP_001026.2:p.Glu3236=