Canonical Allele Identifier: CA345424472

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972307C>A (hg19) ; chr1:g.237809007C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809007C>A , CM000663.2:g.237809007C>A	GRCh38
NC_000001.10:g.237972307C>A , CM000663.1:g.237972307C>A	GRCh37
NC_000001.9:g.236038930C>A	NCBI36
NG_008799.2:g.771606C>A
NG_008799.3:g.771824C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5497C>A	ENSP00000499659.2:n.*5497C>A
ENST00000659194.3:c.14387C>A	ENSP00000499653.3:p.Pro4796Gln
ENST00000660292.2:c.14426C>A	ENSP00000499787.2:p.Pro4809Gln
ENST00000659194.2:c.6576C>A
ENST00000366574.7:c.14405C>A MANE Select	ENSP00000355533.2:p.Pro4802Gln
ENST00000360064.7:c.14354C>A	ENSP00000353174.7:p.Pro4785Gln
ENST00000366574.6:c.14405C>A	ENSP00000355533.2:p.Pro4802Gln
ENST00000608590.5:n.916C>A
NM_001035.2:c.14405C>A	NP_001026.2:p.Pro4802Gln
XM_006711802.2:c.14459C>A	XP_006711865.1:p.Pro4820Gln
XM_006711803.2:c.14456C>A	XP_006711866.1:p.Pro4819Gln
XM_006711804.2:c.14435C>A	XP_006711867.1:p.Pro4812Gln
XM_006711805.2:c.14429C>A	XP_006711868.1:p.Pro4810Gln
XM_006711806.2:c.14423C>A	XP_006711869.1:p.Pro4808Gln
XM_006711807.2:c.14399C>A	XP_006711870.1:p.Pro4800Gln
XM_006711808.2:c.14222C>A	XP_006711871.1:p.Pro4741Gln
XM_006711810.2:c.14366C>A	XP_006711873.1:p.Pro4789Gln
XM_006711802.3:c.14459C>A	XP_006711865.1:p.Pro4820Gln
XM_006711803.3:c.14456C>A	XP_006711866.1:p.Pro4819Gln
XM_006711804.3:c.14435C>A	XP_006711867.1:p.Pro4812Gln
XM_006711805.3:c.14429C>A	XP_006711868.1:p.Pro4810Gln
XM_006711806.3:c.14423C>A	XP_006711869.1:p.Pro4808Gln
XM_006711807.3:c.14399C>A	XP_006711870.1:p.Pro4800Gln
XM_006711808.3:c.14222C>A	XP_006711871.1:p.Pro4741Gln
XM_006711810.3:c.14366C>A	XP_006711873.1:p.Pro4789Gln
XM_017002028.1:c.14438C>A	XP_016857517.1:p.Pro4813Gln
NM_001035.3:c.14405C>A MANE Select	NP_001026.2:p.Pro4802Gln