Canonical Allele Identifier: CA345413692

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784299C>T , CM000663.2:g.237784299C>T	GRCh38
NC_000001.10:g.237947599C>T , CM000663.1:g.237947599C>T	GRCh37
NC_000001.9:g.236014222C>T	NCBI36
NG_008799.2:g.746898C>T
NG_008799.3:g.747116C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.12587C>T MANE Select	NP_001026.2:p.Thr4196Ile
ENST00000366574.7:c.12587C>T MANE Select	ENSP00000355533.2:p.Thr4196Ile
NM_001035.2:c.12587C>T	NP_001026.2:p.Thr4196Ile
ENST00000360064.7:c.12539C>T	ENSP00000353174.7:p.Thr4180Ile
ENST00000366574.6:c.12587C>T	ENSP00000355533.2:p.Thr4196Ile
ENST00000609119.1:n.3782C>T
ENST00000609119.2:c.*3679C>T	ENSP00000499659.2:n.*3679C>T
ENST00000659194.1:c.4764C>T
ENST00000659194.2:c.4764C>T
ENST00000659194.3:c.12575C>T	ENSP00000499653.3:p.Thr4192Ile
ENST00000660292.1:c.2640C>T
ENST00000660292.2:c.12608C>T	ENSP00000499787.2:p.Thr4203Ile
XM_006711802.2:c.12641C>T	XP_006711865.1:p.Thr4214Ile
XM_006711802.3:c.12641C>T	XP_006711865.1:p.Thr4214Ile
XM_006711803.2:c.12638C>T	XP_006711866.1:p.Thr4213Ile
XM_006711803.3:c.12638C>T	XP_006711866.1:p.Thr4213Ile
XM_006711804.2:c.12617C>T	XP_006711867.1:p.Thr4206Ile
XM_006711804.3:c.12617C>T	XP_006711867.1:p.Thr4206Ile
XM_006711805.2:c.12611C>T	XP_006711868.1:p.Thr4204Ile
XM_006711805.3:c.12611C>T	XP_006711868.1:p.Thr4204Ile
XM_006711806.2:c.12605C>T	XP_006711869.1:p.Thr4202Ile
XM_006711806.3:c.12605C>T	XP_006711869.1:p.Thr4202Ile
XM_006711807.2:c.12581C>T	XP_006711870.1:p.Thr4194Ile
XM_006711807.3:c.12581C>T	XP_006711870.1:p.Thr4194Ile
XM_006711808.2:c.12404C>T	XP_006711871.1:p.Thr4135Ile
XM_006711808.3:c.12404C>T	XP_006711871.1:p.Thr4135Ile
XM_006711810.2:c.12548C>T	XP_006711873.1:p.Thr4183Ile
XM_006711810.3:c.12548C>T	XP_006711873.1:p.Thr4183Ile
XM_017002028.1:c.12620C>T	XP_016857517.1:p.Thr4207Ile