Canonical Allele Identifier: CA2487482217

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237783664T>A , CM000663.2:g.237783664T>A	GRCh38
NC_000001.10:g.237946964T>A , CM000663.1:g.237946964T>A	GRCh37
NC_000001.9:g.236013587T>A	NCBI36
NG_008799.2:g.746263T>A
NG_008799.3:g.746481T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3055-11T>A	ENSP00000499659.2:n.*3055-11T>A
ENST00000659194.3:c.11951-11T>A	ENSP00000499653.3:n.11951-11T>A
ENST00000660292.2:c.11984-11T>A	ENSP00000499787.2:n.11984-11T>A
ENST00000659194.2:c.4140-11T>A
ENST00000366574.7:c.11963-11T>A MANE Select	ENSP00000355533.2:n.11963-11T>A
ENST00000659194.1:c.4140-11T>A
ENST00000660292.1:c.2016-11T>A
ENST00000360064.7:c.11915-11T>A	ENSP00000353174.7:n.11915-11T>A
ENST00000366574.6:c.11963-11T>A	ENSP00000355533.2:n.11963-11T>A
ENST00000609119.1:n.3158-11T>A
NM_001035.2:c.11963-11T>A	NP_001026.2:n.11963-11T>A
XM_006711802.2:c.12017-11T>A	XP_006711865.1:n.12017-11T>A
XM_006711803.2:c.12014-11T>A	XP_006711866.1:n.12014-11T>A
XM_006711804.2:c.11993-11T>A	XP_006711867.1:n.11993-11T>A
XM_006711805.2:c.11987-11T>A	XP_006711868.1:n.11987-11T>A
XM_006711806.2:c.11981-11T>A	XP_006711869.1:n.11981-11T>A
XM_006711807.2:c.11957-11T>A	XP_006711870.1:n.11957-11T>A
XM_006711808.2:c.11780-11T>A	XP_006711871.1:n.11780-11T>A
XM_006711810.2:c.11924-11T>A	XP_006711873.1:n.11924-11T>A
XM_006711802.3:c.12017-11T>A	XP_006711865.1:n.12017-11T>A
XM_006711803.3:c.12014-11T>A	XP_006711866.1:n.12014-11T>A
XM_006711804.3:c.11993-11T>A	XP_006711867.1:n.11993-11T>A
XM_006711805.3:c.11987-11T>A	XP_006711868.1:n.11987-11T>A
XM_006711806.3:c.11981-11T>A	XP_006711869.1:n.11981-11T>A
XM_006711807.3:c.11957-11T>A	XP_006711870.1:n.11957-11T>A
XM_006711808.3:c.11780-11T>A	XP_006711871.1:n.11780-11T>A
XM_006711810.3:c.11924-11T>A	XP_006711873.1:n.11924-11T>A
XM_017002028.1:c.11996-11T>A	XP_016857517.1:n.11996-11T>A
NM_001035.3:c.11963-11T>A MANE Select	NP_001026.2:n.11963-11T>A