Canonical Allele Identifier: CA2487482453

Gene: RYR2

Linked Data

• dbSNP Id: rs1695367880

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784263del , CM000663.2:g.237784263del	GRCh38
NC_000001.10:g.237947563del , CM000663.1:g.237947563del	GRCh37
NC_000001.9:g.236014186del	NCBI36
NG_008799.2:g.746862del
NG_008799.3:g.747080del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3643del	ENSP00000499659.2:n.*3643del
ENST00000659194.3:c.12539del	ENSP00000499653.3:p.Glu4180GlyfsTer7
ENST00000660292.2:c.12572del	ENSP00000499787.2:p.Glu4191GlyfsTer7
ENST00000659194.2:c.4728del
ENST00000366574.7:c.12551del MANE Select	ENSP00000355533.2:p.Glu4184GlyfsTer7
ENST00000659194.1:c.4728del
ENST00000660292.1:c.2604del
ENST00000360064.7:c.12503del	ENSP00000353174.7:p.Glu4168GlyfsTer7
ENST00000366574.6:c.12551del	ENSP00000355533.2:p.Glu4184GlyfsTer7
ENST00000609119.1:n.3746del
NM_001035.2:c.12551del	NP_001026.2:p.Glu4184GlyfsTer7
XM_006711802.2:c.12605del	XP_006711865.1:p.Glu4202GlyfsTer7
XM_006711803.2:c.12602del	XP_006711866.1:p.Glu4201GlyfsTer7
XM_006711804.2:c.12581del	XP_006711867.1:p.Glu4194GlyfsTer7
XM_006711805.2:c.12575del	XP_006711868.1:p.Glu4192GlyfsTer7
XM_006711806.2:c.12569del	XP_006711869.1:p.Glu4190GlyfsTer7
XM_006711807.2:c.12545del	XP_006711870.1:p.Glu4182GlyfsTer7
XM_006711808.2:c.12368del	XP_006711871.1:p.Glu4123GlyfsTer7
XM_006711810.2:c.12512del	XP_006711873.1:p.Glu4171GlyfsTer7
XM_006711802.3:c.12605del	XP_006711865.1:p.Glu4202GlyfsTer7
XM_006711803.3:c.12602del	XP_006711866.1:p.Glu4201GlyfsTer7
XM_006711804.3:c.12581del	XP_006711867.1:p.Glu4194GlyfsTer7
XM_006711805.3:c.12575del	XP_006711868.1:p.Glu4192GlyfsTer7
XM_006711806.3:c.12569del	XP_006711869.1:p.Glu4190GlyfsTer7
XM_006711807.3:c.12545del	XP_006711870.1:p.Glu4182GlyfsTer7
XM_006711808.3:c.12368del	XP_006711871.1:p.Glu4123GlyfsTer7
XM_006711810.3:c.12512del	XP_006711873.1:p.Glu4171GlyfsTer7
XM_017002028.1:c.12584del	XP_016857517.1:p.Glu4195GlyfsTer7
NM_001035.3:c.12551del MANE Select	NP_001026.2:p.Glu4184GlyfsTer7