Canonical Allele Identifier: CA39787839

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237702007A>G , CM000663.2:g.237702007A>G	GRCh38
NC_000001.10:g.237865307A>G , CM000663.1:g.237865307A>G	GRCh37
NC_000001.9:g.235931930A>G	NCBI36
NG_008799.2:g.664606A>G
NG_008799.3:g.664824A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.9397A>G MANE Select	NP_001026.2:p.Ile3133Val
ENST00000366574.7:c.9397A>G MANE Select	ENSP00000355533.2:p.Ile3133Val
NM_001035.2:c.9397A>G	NP_001026.2:p.Ile3133Val
ENST00000360064.7:c.9349A>G	ENSP00000353174.7:p.Ile3117Val
ENST00000366574.6:c.9397A>G	ENSP00000355533.2:p.Ile3133Val
ENST00000609119.1:n.535A>G
ENST00000609119.2:c.*432A>G	ENSP00000499659.2:n.*432A>G
ENST00000659194.1:c.1586A>G
ENST00000659194.2:c.1586A>G
ENST00000659194.3:c.9397A>G	ENSP00000499653.3:p.Ile3133Val
ENST00000660292.2:c.9397A>G	ENSP00000499787.2:p.Ile3133Val
XM_006711802.2:c.9427A>G	XP_006711865.1:p.Ile3143Val
XM_006711802.3:c.9427A>G	XP_006711865.1:p.Ile3143Val
XM_006711803.2:c.9424A>G	XP_006711866.1:p.Ile3142Val
XM_006711803.3:c.9424A>G	XP_006711866.1:p.Ile3142Val
XM_006711804.2:c.9427A>G	XP_006711867.1:p.Ile3143Val
XM_006711804.3:c.9427A>G	XP_006711867.1:p.Ile3143Val
XM_006711805.2:c.9397A>G	XP_006711868.1:p.Ile3133Val
XM_006711805.3:c.9397A>G	XP_006711868.1:p.Ile3133Val
XM_006711806.2:c.9427A>G	XP_006711869.1:p.Ile3143Val
XM_006711806.3:c.9427A>G	XP_006711869.1:p.Ile3143Val
XM_006711807.2:c.9427A>G	XP_006711870.1:p.Ile3143Val
XM_006711807.3:c.9427A>G	XP_006711870.1:p.Ile3143Val
XM_006711808.2:c.9190A>G	XP_006711871.1:p.Ile3064Val
XM_006711808.3:c.9190A>G	XP_006711871.1:p.Ile3064Val
XM_006711810.2:c.9394A>G	XP_006711873.1:p.Ile3132Val
XM_006711810.3:c.9394A>G	XP_006711873.1:p.Ile3132Val
XM_017002028.1:c.9406A>G	XP_016857517.1:p.Ile3136Val
XR_949152.1:n.9658A>G
XR_949152.2:n.9691A>G