Canonical Allele Identifier: CA007844

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784986A>G , CM000663.2:g.237784986A>G	GRCh38
NC_000001.10:g.237948286A>G , CM000663.1:g.237948286A>G	GRCh37
NC_000001.9:g.236014909A>G	NCBI36
NG_008799.2:g.747585A>G
NG_008799.3:g.747803A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*4352+14A>G	ENSP00000499659.2:n.*4352+14A>G
ENST00000659194.3:c.13248+14A>G	ENSP00000499653.3:n.13248+14A>G
ENST00000660292.2:c.13281+14A>G	ENSP00000499787.2:n.13281+14A>G
ENST00000659194.2:c.5437+14A>G
ENST00000366574.7:c.13260+14A>G MANE Select	ENSP00000355533.2:n.13260+14A>G
ENST00000660292.1:c.3313+14A>G
ENST00000360064.7:c.13225-2A>G	ENSP00000353174.7:n.13225-2A>G
ENST00000366574.6:c.13260+14A>G	ENSP00000355533.2:n.13260+14A>G
ENST00000609119.1:n.4455+14A>G
NM_001035.2:c.13260+14A>G	NP_001026.2:n.13260+14A>G
XM_006711802.2:c.13314+14A>G	XP_006711865.1:n.13314+14A>G
XM_006711803.2:c.13311+14A>G	XP_006711866.1:n.13311+14A>G
XM_006711804.2:c.13290+14A>G	XP_006711867.1:n.13290+14A>G
XM_006711805.2:c.13284+14A>G	XP_006711868.1:n.13284+14A>G
XM_006711806.2:c.13278+14A>G	XP_006711869.1:n.13278+14A>G
XM_006711807.2:c.13254+14A>G	XP_006711870.1:n.13254+14A>G
XM_006711808.2:c.13077+14A>G	XP_006711871.1:n.13077+14A>G
XM_006711810.2:c.13221+14A>G	XP_006711873.1:n.13221+14A>G
XM_006711802.3:c.13314+14A>G	XP_006711865.1:n.13314+14A>G
XM_006711803.3:c.13311+14A>G	XP_006711866.1:n.13311+14A>G
XM_006711804.3:c.13290+14A>G	XP_006711867.1:n.13290+14A>G
XM_006711805.3:c.13284+14A>G	XP_006711868.1:n.13284+14A>G
XM_006711806.3:c.13278+14A>G	XP_006711869.1:n.13278+14A>G
XM_006711807.3:c.13254+14A>G	XP_006711870.1:n.13254+14A>G
XM_006711808.3:c.13077+14A>G	XP_006711871.1:n.13077+14A>G
XM_006711810.3:c.13221+14A>G	XP_006711873.1:n.13221+14A>G
XM_017002028.1:c.13293+14A>G	XP_016857517.1:n.13293+14A>G
NM_001035.3:c.13260+14A>G MANE Select	NP_001026.2:n.13260+14A>G