Canonical Allele Identifier: CA2487482410

Gene: RYR2

Linked Data

• dbSNP Id: rs1695358630

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784166del , CM000663.2:g.237784166del	GRCh38
NC_000001.10:g.237947466del , CM000663.1:g.237947466del	GRCh37
NC_000001.9:g.236014089del	NCBI36
NG_008799.2:g.746765del
NG_008799.3:g.746983del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3546del	ENSP00000499659.2:n.*3546del
ENST00000659194.3:c.12442del	ENSP00000499653.3:p.Ile4148SerfsTer?
ENST00000660292.2:c.12475del	ENSP00000499787.2:p.Ile4159SerfsTer?
ENST00000659194.2:c.4631del
ENST00000366574.7:c.12454del MANE Select	ENSP00000355533.2:p.Ile4152SerfsTer?
ENST00000659194.1:c.4631del
ENST00000660292.1:c.2507del
ENST00000360064.7:c.12406del	ENSP00000353174.7:p.Ile4136SerfsTer?
ENST00000366574.6:c.12454del	ENSP00000355533.2:p.Ile4152SerfsTer?
ENST00000609119.1:n.3649del
NM_001035.2:c.12454del	NP_001026.2:p.Ile4152SerfsTer?
XM_006711802.2:c.12508del	XP_006711865.1:p.Ile4170SerfsTer?
XM_006711803.2:c.12505del	XP_006711866.1:p.Ile4169SerfsTer?
XM_006711804.2:c.12484del	XP_006711867.1:p.Ile4162SerfsTer?
XM_006711805.2:c.12478del	XP_006711868.1:p.Ile4160SerfsTer?
XM_006711806.2:c.12472del	XP_006711869.1:p.Ile4158SerfsTer?
XM_006711807.2:c.12448del	XP_006711870.1:p.Ile4150SerfsTer?
XM_006711808.2:c.12271del	XP_006711871.1:p.Ile4091SerfsTer?
XM_006711810.2:c.12415del	XP_006711873.1:p.Ile4139SerfsTer?
XM_006711802.3:c.12508del	XP_006711865.1:p.Ile4170SerfsTer?
XM_006711803.3:c.12505del	XP_006711866.1:p.Ile4169SerfsTer?
XM_006711804.3:c.12484del	XP_006711867.1:p.Ile4162SerfsTer?
XM_006711805.3:c.12478del	XP_006711868.1:p.Ile4160SerfsTer?
XM_006711806.3:c.12472del	XP_006711869.1:p.Ile4158SerfsTer?
XM_006711807.3:c.12448del	XP_006711870.1:p.Ile4150SerfsTer?
XM_006711808.3:c.12271del	XP_006711871.1:p.Ile4091SerfsTer?
XM_006711810.3:c.12415del	XP_006711873.1:p.Ile4139SerfsTer?
XM_017002028.1:c.12487del	XP_016857517.1:p.Ile4163SerfsTer?
NM_001035.3:c.12454del MANE Select	NP_001026.2:p.Ile4152SerfsTer?