Canonical Allele Identifier: CA345424180

Gene: RYR2

Linked Data

• COSMIC: COSM2049056 ; COSM4234705
• MyVariant Identifiers: chr1:g.237972240C>A (hg19) ; chr1:g.237808940C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808940C>A , CM000663.2:g.237808940C>A	GRCh38
NC_000001.10:g.237972240C>A , CM000663.1:g.237972240C>A	GRCh37
NC_000001.9:g.236038863C>A	NCBI36
NG_008799.2:g.771539C>A
NG_008799.3:g.771757C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5430C>A	ENSP00000499659.2:n.*5430C>A
ENST00000659194.3:c.14320C>A	ENSP00000499653.3:p.Leu4774Ile
ENST00000660292.2:c.14359C>A	ENSP00000499787.2:p.Leu4787Ile
ENST00000659194.2:c.6509C>A
ENST00000366574.7:c.14338C>A MANE Select	ENSP00000355533.2:p.Leu4780Ile
ENST00000360064.7:c.14287C>A	ENSP00000353174.7:p.Leu4763Ile
ENST00000366574.6:c.14338C>A	ENSP00000355533.2:p.Leu4780Ile
ENST00000608590.5:n.849C>A
NM_001035.2:c.14338C>A	NP_001026.2:p.Leu4780Ile
XM_006711802.2:c.14392C>A	XP_006711865.1:p.Leu4798Ile
XM_006711803.2:c.14389C>A	XP_006711866.1:p.Leu4797Ile
XM_006711804.2:c.14368C>A	XP_006711867.1:p.Leu4790Ile
XM_006711805.2:c.14362C>A	XP_006711868.1:p.Leu4788Ile
XM_006711806.2:c.14356C>A	XP_006711869.1:p.Leu4786Ile
XM_006711807.2:c.14332C>A	XP_006711870.1:p.Leu4778Ile
XM_006711808.2:c.14155C>A	XP_006711871.1:p.Leu4719Ile
XM_006711810.2:c.14299C>A	XP_006711873.1:p.Leu4767Ile
XM_006711802.3:c.14392C>A	XP_006711865.1:p.Leu4798Ile
XM_006711803.3:c.14389C>A	XP_006711866.1:p.Leu4797Ile
XM_006711804.3:c.14368C>A	XP_006711867.1:p.Leu4790Ile
XM_006711805.3:c.14362C>A	XP_006711868.1:p.Leu4788Ile
XM_006711806.3:c.14356C>A	XP_006711869.1:p.Leu4786Ile
XM_006711807.3:c.14332C>A	XP_006711870.1:p.Leu4778Ile
XM_006711808.3:c.14155C>A	XP_006711871.1:p.Leu4719Ile
XM_006711810.3:c.14299C>A	XP_006711873.1:p.Leu4767Ile
XM_017002028.1:c.14371C>A	XP_016857517.1:p.Leu4791Ile
NM_001035.3:c.14338C>A MANE Select	NP_001026.2:p.Leu4780Ile