Canonical Allele Identifier: CA345426727

Gene: RYR2

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237819171A>G , CM000663.2:g.237819171A>G	GRCh38
NC_000001.10:g.237982471A>G , CM000663.1:g.237982471A>G	GRCh37
NC_000001.9:g.236049094A>G	NCBI36
NG_008799.2:g.781770A>G
NG_008799.3:g.781988A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5661A>G	ENSP00000499659.2:n.*5661A>G
ENST00000659194.3:c.14551A>G	ENSP00000499653.3:p.Ile4851Val
ENST00000660292.2:c.14590A>G	ENSP00000499787.2:p.Ile4864Val
ENST00000659194.2:c.6740A>G
ENST00000366574.7:c.14569A>G MANE Select	ENSP00000355533.2:p.Ile4857Val
ENST00000360064.7:c.14518A>G	ENSP00000353174.7:p.Ile4840Val
ENST00000366574.6:c.14569A>G	ENSP00000355533.2:p.Ile4857Val
ENST00000608590.5:n.1080A>G
NM_001035.2:c.14569A>G	NP_001026.2:p.Ile4857Val
XM_006711802.2:c.14623A>G	XP_006711865.1:p.Ile4875Val
XM_006711803.2:c.14620A>G	XP_006711866.1:p.Ile4874Val
XM_006711804.2:c.14599A>G	XP_006711867.1:p.Ile4867Val
XM_006711805.2:c.14593A>G	XP_006711868.1:p.Ile4865Val
XM_006711806.2:c.14587A>G	XP_006711869.1:p.Ile4863Val
XM_006711807.2:c.14563A>G	XP_006711870.1:p.Ile4855Val
XM_006711808.2:c.14386A>G	XP_006711871.1:p.Ile4796Val
XM_006711810.2:c.14530A>G	XP_006711873.1:p.Ile4844Val
XM_006711802.3:c.14623A>G	XP_006711865.1:p.Ile4875Val
XM_006711803.3:c.14620A>G	XP_006711866.1:p.Ile4874Val
XM_006711804.3:c.14599A>G	XP_006711867.1:p.Ile4867Val
XM_006711805.3:c.14593A>G	XP_006711868.1:p.Ile4865Val
XM_006711806.3:c.14587A>G	XP_006711869.1:p.Ile4863Val
XM_006711807.3:c.14563A>G	XP_006711870.1:p.Ile4855Val
XM_006711808.3:c.14386A>G	XP_006711871.1:p.Ile4796Val
XM_006711810.3:c.14530A>G	XP_006711873.1:p.Ile4844Val
XM_017002028.1:c.14602A>G	XP_016857517.1:p.Ile4868Val
NM_001035.3:c.14569A>G MANE Select	NP_001026.2:p.Ile4857Val