Canonical Allele Identifier: CA345413259

Gene: RYR2

Linked Data

• dbSNP Id: rs1695358262
• gnomAD v3: 1-237784152-G-A
• gnomAD v4: 1-237784152-G-A
• MyVariant Identifiers: chr1:g.237947452G>A (hg19) ; chr1:g.237784152G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784152G>A , CM000663.2:g.237784152G>A	GRCh38
NC_000001.10:g.237947452G>A , CM000663.1:g.237947452G>A	GRCh37
NC_000001.9:g.236014075G>A	NCBI36
NG_008799.2:g.746751G>A
NG_008799.3:g.746969G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3532G>A	ENSP00000499659.2:n.*3532G>A
ENST00000659194.3:c.12428G>A	ENSP00000499653.3:p.Arg4143Lys
ENST00000660292.2:c.12461G>A	ENSP00000499787.2:p.Arg4154Lys
ENST00000659194.2:c.4617G>A
ENST00000366574.7:c.12440G>A MANE Select	ENSP00000355533.2:p.Arg4147Lys
ENST00000659194.1:c.4617G>A
ENST00000660292.1:c.2493G>A
ENST00000360064.7:c.12392G>A	ENSP00000353174.7:p.Arg4131Lys
ENST00000366574.6:c.12440G>A	ENSP00000355533.2:p.Arg4147Lys
ENST00000609119.1:n.3635G>A
NM_001035.2:c.12440G>A	NP_001026.2:p.Arg4147Lys
XM_006711802.2:c.12494G>A	XP_006711865.1:p.Arg4165Lys
XM_006711803.2:c.12491G>A	XP_006711866.1:p.Arg4164Lys
XM_006711804.2:c.12470G>A	XP_006711867.1:p.Arg4157Lys
XM_006711805.2:c.12464G>A	XP_006711868.1:p.Arg4155Lys
XM_006711806.2:c.12458G>A	XP_006711869.1:p.Arg4153Lys
XM_006711807.2:c.12434G>A	XP_006711870.1:p.Arg4145Lys
XM_006711808.2:c.12257G>A	XP_006711871.1:p.Arg4086Lys
XM_006711810.2:c.12401G>A	XP_006711873.1:p.Arg4134Lys
XM_006711802.3:c.12494G>A	XP_006711865.1:p.Arg4165Lys
XM_006711803.3:c.12491G>A	XP_006711866.1:p.Arg4164Lys
XM_006711804.3:c.12470G>A	XP_006711867.1:p.Arg4157Lys
XM_006711805.3:c.12464G>A	XP_006711868.1:p.Arg4155Lys
XM_006711806.3:c.12458G>A	XP_006711869.1:p.Arg4153Lys
XM_006711807.3:c.12434G>A	XP_006711870.1:p.Arg4145Lys
XM_006711808.3:c.12257G>A	XP_006711871.1:p.Arg4086Lys
XM_006711810.3:c.12401G>A	XP_006711873.1:p.Arg4134Lys
XM_017002028.1:c.12473G>A	XP_016857517.1:p.Arg4158Lys
NM_001035.3:c.12440G>A MANE Select	NP_001026.2:p.Arg4147Lys