Canonical Allele Identifier: CA345413416

Gene: RYR2

Linked Data

• ClinVar Variation Id: 2169498
• ClinVar RCV Id: RCV003084856
• MyVariant Identifiers: chr1:g.237947487C>A (hg19) ; chr1:g.237784187C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784187C>A , CM000663.2:g.237784187C>A	GRCh38
NC_000001.10:g.237947487C>A , CM000663.1:g.237947487C>A	GRCh37
NC_000001.9:g.236014110C>A	NCBI36
NG_008799.2:g.746786C>A
NG_008799.3:g.747004C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3567C>A	ENSP00000499659.2:n.*3567C>A
ENST00000659194.3:c.12463C>A	ENSP00000499653.3:p.Gln4155Lys
ENST00000660292.2:c.12496C>A	ENSP00000499787.2:p.Gln4166Lys
ENST00000659194.2:c.4652C>A
ENST00000366574.7:c.12475C>A MANE Select	ENSP00000355533.2:p.Gln4159Lys
ENST00000659194.1:c.4652C>A
ENST00000660292.1:c.2528C>A
ENST00000360064.7:c.12427C>A	ENSP00000353174.7:p.Gln4143Lys
ENST00000366574.6:c.12475C>A	ENSP00000355533.2:p.Gln4159Lys
ENST00000609119.1:n.3670C>A
NM_001035.2:c.12475C>A	NP_001026.2:p.Gln4159Lys
XM_006711802.2:c.12529C>A	XP_006711865.1:p.Gln4177Lys
XM_006711803.2:c.12526C>A	XP_006711866.1:p.Gln4176Lys
XM_006711804.2:c.12505C>A	XP_006711867.1:p.Gln4169Lys
XM_006711805.2:c.12499C>A	XP_006711868.1:p.Gln4167Lys
XM_006711806.2:c.12493C>A	XP_006711869.1:p.Gln4165Lys
XM_006711807.2:c.12469C>A	XP_006711870.1:p.Gln4157Lys
XM_006711808.2:c.12292C>A	XP_006711871.1:p.Gln4098Lys
XM_006711810.2:c.12436C>A	XP_006711873.1:p.Gln4146Lys
XM_006711802.3:c.12529C>A	XP_006711865.1:p.Gln4177Lys
XM_006711803.3:c.12526C>A	XP_006711866.1:p.Gln4176Lys
XM_006711804.3:c.12505C>A	XP_006711867.1:p.Gln4169Lys
XM_006711805.3:c.12499C>A	XP_006711868.1:p.Gln4167Lys
XM_006711806.3:c.12493C>A	XP_006711869.1:p.Gln4165Lys
XM_006711807.3:c.12469C>A	XP_006711870.1:p.Gln4157Lys
XM_006711808.3:c.12292C>A	XP_006711871.1:p.Gln4098Lys
XM_006711810.3:c.12436C>A	XP_006711873.1:p.Gln4146Lys
XM_017002028.1:c.12508C>A	XP_016857517.1:p.Gln4170Lys
NM_001035.3:c.12475C>A MANE Select	NP_001026.2:p.Gln4159Lys