Canonical Allele Identifier: CA006587

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237711772G>A , CM000663.2:g.237711772G>A	GRCh38
NC_000001.10:g.237875072G>A , CM000663.1:g.237875072G>A	GRCh37
NC_000001.9:g.235941695G>A	NCBI36
NG_008799.2:g.674371G>A
NG_008799.3:g.674589G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.10258G>A MANE Select	NP_001026.2:p.Val3420Ile
ENST00000366574.7:c.10258G>A MANE Select	ENSP00000355533.2:p.Val3420Ile
NM_001035.2:c.10258G>A	NP_001026.2:p.Val3420Ile
ENST00000360064.7:c.10210G>A	ENSP00000353174.7:p.Val3404Ile
ENST00000366574.6:c.10258G>A	ENSP00000355533.2:p.Val3420Ile
ENST00000609119.1:n.1396G>A
ENST00000609119.2:c.*1293G>A	ENSP00000499659.2:n.*1293G>A
ENST00000659194.1:c.2447G>A
ENST00000659194.2:c.2447G>A
ENST00000659194.3:c.10258G>A	ENSP00000499653.3:p.Val3420Ile
ENST00000660292.1:c.290G>A
ENST00000660292.2:c.10258G>A	ENSP00000499787.2:p.Val3420Ile
ENST00000661330.1:c.65G>A
XM_006711802.2:c.10288G>A	XP_006711865.1:p.Val3430Ile
XM_006711802.3:c.10288G>A	XP_006711865.1:p.Val3430Ile
XM_006711803.2:c.10285G>A	XP_006711866.1:p.Val3429Ile
XM_006711803.3:c.10285G>A	XP_006711866.1:p.Val3429Ile
XM_006711804.2:c.10288G>A	XP_006711867.1:p.Val3430Ile
XM_006711804.3:c.10288G>A	XP_006711867.1:p.Val3430Ile
XM_006711805.2:c.10258G>A	XP_006711868.1:p.Val3420Ile
XM_006711805.3:c.10258G>A	XP_006711868.1:p.Val3420Ile
XM_006711806.2:c.10288G>A	XP_006711869.1:p.Val3430Ile
XM_006711806.3:c.10288G>A	XP_006711869.1:p.Val3430Ile
XM_006711807.2:c.10288G>A	XP_006711870.1:p.Val3430Ile
XM_006711807.3:c.10288G>A	XP_006711870.1:p.Val3430Ile
XM_006711808.2:c.10051G>A	XP_006711871.1:p.Val3351Ile
XM_006711808.3:c.10051G>A	XP_006711871.1:p.Val3351Ile
XM_006711810.2:c.10255G>A	XP_006711873.1:p.Val3419Ile
XM_006711810.3:c.10255G>A	XP_006711873.1:p.Val3419Ile
XM_017002028.1:c.10267G>A	XP_016857517.1:p.Val3423Ile