Canonical Allele Identifier: CA2487482409

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784163_237784164delinsGA , CM000663.2:g.237784163_237784164delinsGA	GRCh38
NC_000001.10:g.237947463_237947464delinsGA , CM000663.1:g.237947463_237947464delinsGA	GRCh37
NC_000001.9:g.236014086_236014087delinsGA	NCBI36
NG_008799.2:g.746762_746763delinsGA
NG_008799.3:g.746980_746981delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3543_*3544delinsGA	ENSP00000499659.2:n.*3543_*3544delinsGA
ENST00000659194.3:c.12439_12440delinsGA	ENSP00000499653.3:p.Glu4147=
ENST00000660292.2:c.12472_12473delinsGA	ENSP00000499787.2:p.Glu4158=
ENST00000659194.2:c.4628_4629delinsGA
ENST00000366574.7:c.12451_12452delinsGA MANE Select	ENSP00000355533.2:p.Glu4151=
ENST00000659194.1:c.4628_4629delinsGA
ENST00000660292.1:c.2504_2505delinsGA
ENST00000360064.7:c.12403_12404delinsGA	ENSP00000353174.7:p.Glu4135=
ENST00000366574.6:c.12451_12452delinsGA	ENSP00000355533.2:p.Glu4151=
ENST00000609119.1:n.3646_3647delinsGA
NM_001035.2:c.12451_12452delinsGA	NP_001026.2:p.Glu4151=
XM_006711802.2:c.12505_12506delinsGA	XP_006711865.1:p.Glu4169=
XM_006711803.2:c.12502_12503delinsGA	XP_006711866.1:p.Glu4168=
XM_006711804.2:c.12481_12482delinsGA	XP_006711867.1:p.Glu4161=
XM_006711805.2:c.12475_12476delinsGA	XP_006711868.1:p.Glu4159=
XM_006711806.2:c.12469_12470delinsGA	XP_006711869.1:p.Glu4157=
XM_006711807.2:c.12445_12446delinsGA	XP_006711870.1:p.Glu4149=
XM_006711808.2:c.12268_12269delinsGA	XP_006711871.1:p.Glu4090=
XM_006711810.2:c.12412_12413delinsGA	XP_006711873.1:p.Glu4138=
XM_006711802.3:c.12505_12506delinsGA	XP_006711865.1:p.Glu4169=
XM_006711803.3:c.12502_12503delinsGA	XP_006711866.1:p.Glu4168=
XM_006711804.3:c.12481_12482delinsGA	XP_006711867.1:p.Glu4161=
XM_006711805.3:c.12475_12476delinsGA	XP_006711868.1:p.Glu4159=
XM_006711806.3:c.12469_12470delinsGA	XP_006711869.1:p.Glu4157=
XM_006711807.3:c.12445_12446delinsGA	XP_006711870.1:p.Glu4149=
XM_006711808.3:c.12268_12269delinsGA	XP_006711871.1:p.Glu4090=
XM_006711810.3:c.12412_12413delinsGA	XP_006711873.1:p.Glu4138=
XM_017002028.1:c.12484_12485delinsGA	XP_016857517.1:p.Glu4162=
NM_001035.3:c.12451_12452delinsGA MANE Select	NP_001026.2:p.Glu4151=