Canonical Allele Identifier: CA2748280164

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784142_237784143insACACCCAAC , CM000663.2:g.237784142_237784143insACACCCAAC	GRCh38
NC_000001.10:g.237947442_237947443insACACCCAAC , CM000663.1:g.237947442_237947443insACACCCAAC	GRCh37
NC_000001.9:g.236014065_236014066insACACCCAAC	NCBI36
NG_008799.2:g.746741_746742insACACCCAAC
NG_008799.3:g.746959_746960insACACCCAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3522_*3523insACACCCAAC	ENSP00000499659.2:n.*3522_*3523insACACCCAAC
ENST00000659194.3:c.12418_12419insACACCCAAC	ENSP00000499653.3:p.Lys4139_Arg4140insHisThrGln
ENST00000660292.2:c.12451_12452insACACCCAAC	ENSP00000499787.2:p.Lys4150_Arg4151insHisThrGln
ENST00000659194.2:c.4607_4608insACACCCAAC
ENST00000366574.7:c.12430_12431insACACCCAAC MANE Select	ENSP00000355533.2:p.Lys4143_Arg4144insHisThrGln
ENST00000659194.1:c.4607_4608insACACCCAAC
ENST00000660292.1:c.2483_2484insACACCCAAC
ENST00000360064.7:c.12382_12383insACACCCAAC	ENSP00000353174.7:p.Lys4127_Arg4128insHisThrGln
ENST00000366574.6:c.12430_12431insACACCCAAC	ENSP00000355533.2:p.Lys4143_Arg4144insHisThrGln
ENST00000609119.1:n.3625_3626insACACCCAAC
NM_001035.2:c.12430_12431insACACCCAAC	NP_001026.2:p.Lys4143_Arg4144insHisThrGln
XM_006711802.2:c.12484_12485insACACCCAAC	XP_006711865.1:p.Lys4161_Arg4162insHisThrGln
XM_006711803.2:c.12481_12482insACACCCAAC	XP_006711866.1:p.Lys4160_Arg4161insHisThrGln
XM_006711804.2:c.12460_12461insACACCCAAC	XP_006711867.1:p.Lys4153_Arg4154insHisThrGln
XM_006711805.2:c.12454_12455insACACCCAAC	XP_006711868.1:p.Lys4151_Arg4152insHisThrGln
XM_006711806.2:c.12448_12449insACACCCAAC	XP_006711869.1:p.Lys4149_Arg4150insHisThrGln
XM_006711807.2:c.12424_12425insACACCCAAC	XP_006711870.1:p.Lys4141_Arg4142insHisThrGln
XM_006711808.2:c.12247_12248insACACCCAAC	XP_006711871.1:p.Lys4082_Arg4083insHisThrGln
XM_006711810.2:c.12391_12392insACACCCAAC	XP_006711873.1:p.Lys4130_Arg4131insHisThrGln
XM_006711802.3:c.12484_12485insACACCCAAC	XP_006711865.1:p.Lys4161_Arg4162insHisThrGln
XM_006711803.3:c.12481_12482insACACCCAAC	XP_006711866.1:p.Lys4160_Arg4161insHisThrGln
XM_006711804.3:c.12460_12461insACACCCAAC	XP_006711867.1:p.Lys4153_Arg4154insHisThrGln
XM_006711805.3:c.12454_12455insACACCCAAC	XP_006711868.1:p.Lys4151_Arg4152insHisThrGln
XM_006711806.3:c.12448_12449insACACCCAAC	XP_006711869.1:p.Lys4149_Arg4150insHisThrGln
XM_006711807.3:c.12424_12425insACACCCAAC	XP_006711870.1:p.Lys4141_Arg4142insHisThrGln
XM_006711808.3:c.12247_12248insACACCCAAC	XP_006711871.1:p.Lys4082_Arg4083insHisThrGln
XM_006711810.3:c.12391_12392insACACCCAAC	XP_006711873.1:p.Lys4130_Arg4131insHisThrGln
XM_017002028.1:c.12463_12464insACACCCAAC	XP_016857517.1:p.Lys4154_Arg4155insHisThrGln
NM_001035.3:c.12430_12431insACACCCAAC MANE Select	NP_001026.2:p.Lys4143_Arg4144insHisThrGln