Canonical Allele Identifier: CA345403563

Gene: RYR2

Linked Data

• gnomAD v4: 1-237678059-A-G
• MyVariant Identifiers: chr1:g.237841359A>G (hg19) ; chr1:g.237678059A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237678059A>G , CM000663.2:g.237678059A>G	GRCh38
NC_000001.10:g.237841359A>G , CM000663.1:g.237841359A>G	GRCh37
NC_000001.9:g.235907982A>G	NCBI36
NG_008799.2:g.640658A>G
NG_008799.3:g.640876A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.8831-2397A>G	ENSP00000499659.2:n.8831-2397A>G
ENST00000659194.3:c.8842A>G	ENSP00000499653.3:p.Arg2948Gly
ENST00000660292.2:c.8842A>G	ENSP00000499787.2:p.Arg2948Gly
ENST00000659194.2:c.1031A>G
ENST00000366574.7:c.8842A>G MANE Select	ENSP00000355533.2:p.Arg2948Gly
ENST00000659194.1:c.1031A>G
ENST00000360064.7:c.8794A>G	ENSP00000353174.7:p.Arg2932Gly
ENST00000366574.6:c.8842A>G	ENSP00000355533.2:p.Arg2948Gly
ENST00000609119.1:n.84-2397A>G
NM_001035.2:c.8842A>G	NP_001026.2:p.Arg2948Gly
XM_006711802.2:c.8872A>G	XP_006711865.1:p.Arg2958Gly
XM_006711803.2:c.8869A>G	XP_006711866.1:p.Arg2957Gly
XM_006711804.2:c.8872A>G	XP_006711867.1:p.Arg2958Gly
XM_006711805.2:c.8842A>G	XP_006711868.1:p.Arg2948Gly
XM_006711806.2:c.8872A>G	XP_006711869.1:p.Arg2958Gly
XM_006711807.2:c.8872A>G	XP_006711870.1:p.Arg2958Gly
XM_006711808.2:c.8860+3213A>G	XP_006711871.1:n.8860+3213A>G
XM_006711810.2:c.8839A>G	XP_006711873.1:p.Arg2947Gly
XR_949152.1:n.9153A>G
XM_006711802.3:c.8872A>G	XP_006711865.1:p.Arg2958Gly
XM_006711803.3:c.8869A>G	XP_006711866.1:p.Arg2957Gly
XM_006711804.3:c.8872A>G	XP_006711867.1:p.Arg2958Gly
XM_006711805.3:c.8842A>G	XP_006711868.1:p.Arg2948Gly
XM_006711806.3:c.8872A>G	XP_006711869.1:p.Arg2958Gly
XM_006711807.3:c.8872A>G	XP_006711870.1:p.Arg2958Gly
XM_006711808.3:c.8860+3213A>G	XP_006711871.1:n.8860+3213A>G
XM_006711810.3:c.8839A>G	XP_006711873.1:p.Arg2947Gly
XM_017002028.1:c.8851A>G	XP_016857517.1:p.Arg2951Gly
XR_949152.2:n.9186A>G
NM_001035.3:c.8842A>G MANE Select	NP_001026.2:p.Arg2948Gly