Canonical Allele Identifier: CA345413422

Gene: RYR2

Linked Data

• ClinVar Variation Id: 578246
• ClinVar RCV Id: RCV002533615
• dbSNP Id: rs1558405653
• MyVariant Identifiers: chr1:g.237947489G>T (hg19) ; chr1:g.237784189G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784189G>T , CM000663.2:g.237784189G>T	GRCh38
NC_000001.10:g.237947489G>T , CM000663.1:g.237947489G>T	GRCh37
NC_000001.9:g.236014112G>T	NCBI36
NG_008799.2:g.746788G>T
NG_008799.3:g.747006G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3569G>T	ENSP00000499659.2:n.*3569G>T
ENST00000659194.3:c.12465G>T	ENSP00000499653.3:p.Gln4155His
ENST00000660292.2:c.12498G>T	ENSP00000499787.2:p.Gln4166His
ENST00000659194.2:c.4654G>T
ENST00000366574.7:c.12477G>T MANE Select	ENSP00000355533.2:p.Gln4159His
ENST00000659194.1:c.4654G>T
ENST00000660292.1:c.2530G>T
ENST00000360064.7:c.12429G>T	ENSP00000353174.7:p.Gln4143His
ENST00000366574.6:c.12477G>T	ENSP00000355533.2:p.Gln4159His
ENST00000609119.1:n.3672G>T
NM_001035.2:c.12477G>T	NP_001026.2:p.Gln4159His
XM_006711802.2:c.12531G>T	XP_006711865.1:p.Gln4177His
XM_006711803.2:c.12528G>T	XP_006711866.1:p.Gln4176His
XM_006711804.2:c.12507G>T	XP_006711867.1:p.Gln4169His
XM_006711805.2:c.12501G>T	XP_006711868.1:p.Gln4167His
XM_006711806.2:c.12495G>T	XP_006711869.1:p.Gln4165His
XM_006711807.2:c.12471G>T	XP_006711870.1:p.Gln4157His
XM_006711808.2:c.12294G>T	XP_006711871.1:p.Gln4098His
XM_006711810.2:c.12438G>T	XP_006711873.1:p.Gln4146His
XM_006711802.3:c.12531G>T	XP_006711865.1:p.Gln4177His
XM_006711803.3:c.12528G>T	XP_006711866.1:p.Gln4176His
XM_006711804.3:c.12507G>T	XP_006711867.1:p.Gln4169His
XM_006711805.3:c.12501G>T	XP_006711868.1:p.Gln4167His
XM_006711806.3:c.12495G>T	XP_006711869.1:p.Gln4165His
XM_006711807.3:c.12471G>T	XP_006711870.1:p.Gln4157His
XM_006711808.3:c.12294G>T	XP_006711871.1:p.Gln4098His
XM_006711810.3:c.12438G>T	XP_006711873.1:p.Gln4146His
XM_017002028.1:c.12510G>T	XP_016857517.1:p.Gln4170His
NM_001035.3:c.12477G>T MANE Select	NP_001026.2:p.Gln4159His