Canonical Allele Identifier: CA011117

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237698982A>G , CM000663.2:g.237698982A>G	GRCh38
NC_000001.10:g.237862282A>G , CM000663.1:g.237862282A>G	GRCh37
NC_000001.9:g.235928905A>G	NCBI36
NG_008799.2:g.661581A>G
NG_008799.3:g.661799A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*120A>G	ENSP00000499659.2:n.*120A>G
ENST00000659194.3:c.9085A>G	ENSP00000499653.3:p.Ile3029Val
ENST00000660292.2:c.9085A>G	ENSP00000499787.2:p.Ile3029Val
ENST00000659194.2:c.1274A>G
ENST00000366574.7:c.9085A>G MANE Select	ENSP00000355533.2:p.Ile3029Val
ENST00000659194.1:c.1274A>G
ENST00000360064.7:c.9037A>G	ENSP00000353174.7:p.Ile3013Val
ENST00000366574.6:c.9085A>G	ENSP00000355533.2:p.Ile3029Val
ENST00000609119.1:n.223A>G
NM_001035.2:c.9085A>G	NP_001026.2:p.Ile3029Val
XM_006711802.2:c.9115A>G	XP_006711865.1:p.Ile3039Val
XM_006711803.2:c.9112A>G	XP_006711866.1:p.Ile3038Val
XM_006711804.2:c.9115A>G	XP_006711867.1:p.Ile3039Val
XM_006711805.2:c.9085A>G	XP_006711868.1:p.Ile3029Val
XM_006711806.2:c.9115A>G	XP_006711869.1:p.Ile3039Val
XM_006711807.2:c.9115A>G	XP_006711870.1:p.Ile3039Val
XM_006711808.2:c.8878A>G	XP_006711871.1:p.Ile2960Val
XM_006711810.2:c.9082A>G	XP_006711873.1:p.Ile3028Val
XR_949152.1:n.9346A>G
XM_006711802.3:c.9115A>G	XP_006711865.1:p.Ile3039Val
XM_006711803.3:c.9112A>G	XP_006711866.1:p.Ile3038Val
XM_006711804.3:c.9115A>G	XP_006711867.1:p.Ile3039Val
XM_006711805.3:c.9085A>G	XP_006711868.1:p.Ile3029Val
XM_006711806.3:c.9115A>G	XP_006711869.1:p.Ile3039Val
XM_006711807.3:c.9115A>G	XP_006711870.1:p.Ile3039Val
XM_006711808.3:c.8878A>G	XP_006711871.1:p.Ile2960Val
XM_006711810.3:c.9082A>G	XP_006711873.1:p.Ile3028Val
XM_017002028.1:c.9094A>G	XP_016857517.1:p.Ile3032Val
XR_949152.2:n.9379A>G
NM_001035.3:c.9085A>G MANE Select	NP_001026.2:p.Ile3029Val