Canonical Allele Identifier: CA2651212549

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237733691C>A , CM000663.2:g.237733691C>A	GRCh38
NC_000001.10:g.237896991C>A , CM000663.1:g.237896991C>A	GRCh37
NC_000001.9:g.235963614C>A	NCBI36
NG_008799.2:g.696290C>A
NG_008799.3:g.696508C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.11040-14C>A MANE Select	NP_001026.2:n.11040-14C>A
ENST00000366574.7:c.11040-14C>A MANE Select	ENSP00000355533.2:n.11040-14C>A
NM_001035.2:c.11040-14C>A	NP_001026.2:n.11040-14C>A
ENST00000360064.7:c.10992-14C>A	ENSP00000353174.7:n.10992-14C>A
ENST00000366574.6:c.11040-14C>A	ENSP00000355533.2:n.11040-14C>A
ENST00000609119.1:n.2178-14C>A
ENST00000609119.2:c.*2075-14C>A	ENSP00000499659.2:n.*2075-14C>A
ENST00000659194.1:c.3193-14C>A
ENST00000659194.2:c.3193-14C>A
ENST00000659194.3:c.11004-14C>A	ENSP00000499653.3:n.11004-14C>A
ENST00000660292.1:c.1036-14C>A
ENST00000660292.2:c.11004-14C>A	ENSP00000499787.2:n.11004-14C>A
ENST00000661330.1:c.847-14C>A
XM_006711802.2:c.11070-14C>A	XP_006711865.1:n.11070-14C>A
XM_006711802.3:c.11070-14C>A	XP_006711865.1:n.11070-14C>A
XM_006711803.2:c.11067-14C>A	XP_006711866.1:n.11067-14C>A
XM_006711803.3:c.11067-14C>A	XP_006711866.1:n.11067-14C>A
XM_006711804.2:c.11070-14C>A	XP_006711867.1:n.11070-14C>A
XM_006711804.3:c.11070-14C>A	XP_006711867.1:n.11070-14C>A
XM_006711805.2:c.11040-14C>A	XP_006711868.1:n.11040-14C>A
XM_006711805.3:c.11040-14C>A	XP_006711868.1:n.11040-14C>A
XM_006711806.2:c.11034-14C>A	XP_006711869.1:n.11034-14C>A
XM_006711806.3:c.11034-14C>A	XP_006711869.1:n.11034-14C>A
XM_006711807.2:c.11034-14C>A	XP_006711870.1:n.11034-14C>A
XM_006711807.3:c.11034-14C>A	XP_006711870.1:n.11034-14C>A
XM_006711808.2:c.10833-14C>A	XP_006711871.1:n.10833-14C>A
XM_006711808.3:c.10833-14C>A	XP_006711871.1:n.10833-14C>A
XM_006711810.2:c.11001-14C>A	XP_006711873.1:n.11001-14C>A
XM_006711810.3:c.11001-14C>A	XP_006711873.1:n.11001-14C>A
XM_017002028.1:c.11049-14C>A	XP_016857517.1:n.11049-14C>A