Canonical Allele Identifier: CA2573051535

Gene: RYR2

Linked Data

• ClinVar Variation Id: 1318886
• ClinVar RCV Id: RCV001755534
• dbSNP Id: rs2149354492

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784329_237784331del , CM000663.2:g.237784329_237784331del	GRCh38
NC_000001.10:g.237947629_237947631del , CM000663.1:g.237947629_237947631del	GRCh37
NC_000001.9:g.236014252_236014254del	NCBI36
NG_008799.2:g.746928_746930del
NG_008799.3:g.747146_747148del

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3709_*3711del	ENSP00000499659.2:n.*3709_*3711del
ENST00000659194.3:c.12605_12607del	ENSP00000499653.3:p.Ile4202_Ser4203delins...
ENST00000660292.2:c.12638_12640del	ENSP00000499787.2:p.Ile4213_Ser4214delins...
ENST00000659194.2:c.4794_4796del
ENST00000366574.7:c.12617_12619del MANE Select	ENSP00000355533.2:p.Ile4206_Ser4207delins...
ENST00000659194.1:c.4794_4796del
ENST00000660292.1:c.2670_2672del
ENST00000360064.7:c.12569_12571del	ENSP00000353174.7:p.Ile4190_Ser4191delins...
ENST00000366574.6:c.12617_12619del	ENSP00000355533.2:p.Ile4206_Ser4207delins...
ENST00000609119.1:n.3812_3814del
NM_001035.2:c.12617_12619del	NP_001026.2:p.Ile4206_Ser4207delinsThr
XM_006711802.2:c.12671_12673del	XP_006711865.1:p.Ile4224_Ser4225delinsThr...
XM_006711803.2:c.12668_12670del	XP_006711866.1:p.Ile4223_Ser4224delinsThr...
XM_006711804.2:c.12647_12649del	XP_006711867.1:p.Ile4216_Ser4217delinsThr...
XM_006711805.2:c.12641_12643del	XP_006711868.1:p.Ile4214_Ser4215delinsThr...
XM_006711806.2:c.12635_12637del	XP_006711869.1:p.Ile4212_Ser4213delinsThr...
XM_006711807.2:c.12611_12613del	XP_006711870.1:p.Ile4204_Ser4205delinsThr...
XM_006711808.2:c.12434_12436del	XP_006711871.1:p.Ile4145_Ser4146delinsThr...
XM_006711810.2:c.12578_12580del	XP_006711873.1:p.Ile4193_Ser4194delinsThr...
XM_006711802.3:c.12671_12673del	XP_006711865.1:p.Ile4224_Ser4225delinsThr...
XM_006711803.3:c.12668_12670del	XP_006711866.1:p.Ile4223_Ser4224delinsThr...
XM_006711804.3:c.12647_12649del	XP_006711867.1:p.Ile4216_Ser4217delinsThr...
XM_006711805.3:c.12641_12643del	XP_006711868.1:p.Ile4214_Ser4215delinsThr...
XM_006711806.3:c.12635_12637del	XP_006711869.1:p.Ile4212_Ser4213delinsThr...
XM_006711807.3:c.12611_12613del	XP_006711870.1:p.Ile4204_Ser4205delinsThr...
XM_006711808.3:c.12434_12436del	XP_006711871.1:p.Ile4145_Ser4146delinsThr...
XM_006711810.3:c.12578_12580del	XP_006711873.1:p.Ile4193_Ser4194delinsThr...
XM_017002028.1:c.12650_12652del	XP_016857517.1:p.Ile4217_Ser4218delinsThr...
NM_001035.3:c.12617_12619del MANE Select	NP_001026.2:p.Ile4206_Ser4207delinsThr