Canonical Allele Identifier: CA2517805848

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784320del , CM000663.2:g.237784320del	GRCh38
NC_000001.10:g.237947620del , CM000663.1:g.237947620del	GRCh37
NC_000001.9:g.236014243del	NCBI36
NG_008799.2:g.746919del
NG_008799.3:g.747137del

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3700del	ENSP00000499659.2:n.*3700del
ENST00000659194.3:c.12596del	ENSP00000499653.3:p.Ala4199GlyfsTer9
ENST00000660292.2:c.12629del	ENSP00000499787.2:p.Ala4210GlyfsTer9
ENST00000659194.2:c.4785del
ENST00000366574.7:c.12608del MANE Select	ENSP00000355533.2:p.Ala4203GlyfsTer9
ENST00000659194.1:c.4785del
ENST00000660292.1:c.2661del
ENST00000360064.7:c.12560del	ENSP00000353174.7:p.Ala4187GlyfsTer9
ENST00000366574.6:c.12608del	ENSP00000355533.2:p.Ala4203GlyfsTer9
ENST00000609119.1:n.3803del
NM_001035.2:c.12608del	NP_001026.2:p.Ala4203GlyfsTer9
XM_006711802.2:c.12662del	XP_006711865.1:p.Ala4221GlyfsTer9
XM_006711803.2:c.12659del	XP_006711866.1:p.Ala4220GlyfsTer9
XM_006711804.2:c.12638del	XP_006711867.1:p.Ala4213GlyfsTer9
XM_006711805.2:c.12632del	XP_006711868.1:p.Ala4211GlyfsTer9
XM_006711806.2:c.12626del	XP_006711869.1:p.Ala4209GlyfsTer9
XM_006711807.2:c.12602del	XP_006711870.1:p.Ala4201GlyfsTer9
XM_006711808.2:c.12425del	XP_006711871.1:p.Ala4142GlyfsTer9
XM_006711810.2:c.12569del	XP_006711873.1:p.Ala4190GlyfsTer9
XM_006711802.3:c.12662del	XP_006711865.1:p.Ala4221GlyfsTer9
XM_006711803.3:c.12659del	XP_006711866.1:p.Ala4220GlyfsTer9
XM_006711804.3:c.12638del	XP_006711867.1:p.Ala4213GlyfsTer9
XM_006711805.3:c.12632del	XP_006711868.1:p.Ala4211GlyfsTer9
XM_006711806.3:c.12626del	XP_006711869.1:p.Ala4209GlyfsTer9
XM_006711807.3:c.12602del	XP_006711870.1:p.Ala4201GlyfsTer9
XM_006711808.3:c.12425del	XP_006711871.1:p.Ala4142GlyfsTer9
XM_006711810.3:c.12569del	XP_006711873.1:p.Ala4190GlyfsTer9
XM_017002028.1:c.12641del	XP_016857517.1:p.Ala4214GlyfsTer9
NM_001035.3:c.12608del MANE Select	NP_001026.2:p.Ala4203GlyfsTer9