Canonical Allele Identifier: CA085305

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784907A>G , CM000663.2:g.237784907A>G	GRCh38
NC_000001.10:g.237948207A>G , CM000663.1:g.237948207A>G	GRCh37
NC_000001.9:g.236014830A>G	NCBI36
NG_008799.2:g.747506A>G
NG_008799.3:g.747724A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*4287A>G	ENSP00000499659.2:n.*4287A>G
ENST00000659194.3:c.13183A>G	ENSP00000499653.3:p.Asn4395Asp
ENST00000660292.2:c.13216A>G	ENSP00000499787.2:p.Asn4406Asp
ENST00000659194.2:c.5372A>G
ENST00000366574.7:c.13195A>G MANE Select	ENSP00000355533.2:p.Asn4399Asp
ENST00000659194.1:c.5372A>G
ENST00000660292.1:c.3248A>G
ENST00000360064.7:c.13147A>G	ENSP00000353174.7:p.Asn4383Asp
ENST00000366574.6:c.13195A>G	ENSP00000355533.2:p.Asn4399Asp
ENST00000609119.1:n.4390A>G
NM_001035.2:c.13195A>G	NP_001026.2:p.Asn4399Asp
XM_006711802.2:c.13249A>G	XP_006711865.1:p.Asn4417Asp
XM_006711803.2:c.13246A>G	XP_006711866.1:p.Asn4416Asp
XM_006711804.2:c.13225A>G	XP_006711867.1:p.Asn4409Asp
XM_006711805.2:c.13219A>G	XP_006711868.1:p.Asn4407Asp
XM_006711806.2:c.13213A>G	XP_006711869.1:p.Asn4405Asp
XM_006711807.2:c.13189A>G	XP_006711870.1:p.Asn4397Asp
XM_006711808.2:c.13012A>G	XP_006711871.1:p.Asn4338Asp
XM_006711810.2:c.13156A>G	XP_006711873.1:p.Asn4386Asp
XM_006711802.3:c.13249A>G	XP_006711865.1:p.Asn4417Asp
XM_006711803.3:c.13246A>G	XP_006711866.1:p.Asn4416Asp
XM_006711804.3:c.13225A>G	XP_006711867.1:p.Asn4409Asp
XM_006711805.3:c.13219A>G	XP_006711868.1:p.Asn4407Asp
XM_006711806.3:c.13213A>G	XP_006711869.1:p.Asn4405Asp
XM_006711807.3:c.13189A>G	XP_006711870.1:p.Asn4397Asp
XM_006711808.3:c.13012A>G	XP_006711871.1:p.Asn4338Asp
XM_006711810.3:c.13156A>G	XP_006711873.1:p.Asn4386Asp
XM_017002028.1:c.13228A>G	XP_016857517.1:p.Asn4410Asp
NM_001035.3:c.13195A>G MANE Select	NP_001026.2:p.Asn4399Asp