Canonical Allele Identifier: CA345413046

Gene: RYR2

Linked Data

• gnomAD v4: 1-237784071-A-G
• MyVariant Identifiers: chr1:g.237947371A>G (hg19) ; chr1:g.237784071A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784071A>G , CM000663.2:g.237784071A>G	GRCh38
NC_000001.10:g.237947371A>G , CM000663.1:g.237947371A>G	GRCh37
NC_000001.9:g.236013994A>G	NCBI36
NG_008799.2:g.746670A>G
NG_008799.3:g.746888A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3451A>G	ENSP00000499659.2:n.*3451A>G
ENST00000659194.3:c.12347A>G	ENSP00000499653.3:p.Glu4116Gly
ENST00000660292.2:c.12380A>G	ENSP00000499787.2:p.Glu4127Gly
ENST00000659194.2:c.4536A>G
ENST00000366574.7:c.12359A>G MANE Select	ENSP00000355533.2:p.Glu4120Gly
ENST00000659194.1:c.4536A>G
ENST00000660292.1:c.2412A>G
ENST00000360064.7:c.12311A>G	ENSP00000353174.7:p.Glu4104Gly
ENST00000366574.6:c.12359A>G	ENSP00000355533.2:p.Glu4120Gly
ENST00000609119.1:n.3554A>G
NM_001035.2:c.12359A>G	NP_001026.2:p.Glu4120Gly
XM_006711802.2:c.12413A>G	XP_006711865.1:p.Glu4138Gly
XM_006711803.2:c.12410A>G	XP_006711866.1:p.Glu4137Gly
XM_006711804.2:c.12389A>G	XP_006711867.1:p.Glu4130Gly
XM_006711805.2:c.12383A>G	XP_006711868.1:p.Glu4128Gly
XM_006711806.2:c.12377A>G	XP_006711869.1:p.Glu4126Gly
XM_006711807.2:c.12353A>G	XP_006711870.1:p.Glu4118Gly
XM_006711808.2:c.12176A>G	XP_006711871.1:p.Glu4059Gly
XM_006711810.2:c.12320A>G	XP_006711873.1:p.Glu4107Gly
XM_006711802.3:c.12413A>G	XP_006711865.1:p.Glu4138Gly
XM_006711803.3:c.12410A>G	XP_006711866.1:p.Glu4137Gly
XM_006711804.3:c.12389A>G	XP_006711867.1:p.Glu4130Gly
XM_006711805.3:c.12383A>G	XP_006711868.1:p.Glu4128Gly
XM_006711806.3:c.12377A>G	XP_006711869.1:p.Glu4126Gly
XM_006711807.3:c.12353A>G	XP_006711870.1:p.Glu4118Gly
XM_006711808.3:c.12176A>G	XP_006711871.1:p.Glu4059Gly
XM_006711810.3:c.12320A>G	XP_006711873.1:p.Glu4107Gly
XM_017002028.1:c.12392A>G	XP_016857517.1:p.Glu4131Gly
NM_001035.3:c.12359A>G MANE Select	NP_001026.2:p.Glu4120Gly