Canonical Allele Identifier: CA733286382

Gene: RYR2

Linked Data

• dbSNP Id: rs1475445404
• gnomAD v3: 1-237417363-TTTTG-T
• gnomAD v4: 1-237417363-TTTTG-T
• MyVariant Identifiers: chr1:g.237580664_237580667del (hg19) ; chr1:g.237417364_237417367del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237417365_237417368del , CM000663.2:g.237417365_237417368del	GRCh38
NC_000001.10:g.237580665_237580668del , CM000663.1:g.237580665_237580668del	GRCh37
NC_000001.9:g.235647288_235647291del	NCBI36
NG_008799.2:g.379964_379967del
NG_008799.3:g.380182_380185del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.848+242_848+245del	ENSP00000499659.2:n.848+242_848+245del
ENST00000659194.3:c.848+242_848+245del	ENSP00000499653.3:n.848+242_848+245del
ENST00000660292.2:c.848+242_848+245del	ENSP00000499787.2:n.848+242_848+245del
ENST00000366574.7:c.848+242_848+245del MANE Select	ENSP00000355533.2:n.848+242_848+245del
ENST00000360064.7:c.800+242_800+245del	ENSP00000353174.7:n.800+242_800+245del
ENST00000366574.6:c.848+242_848+245del	ENSP00000355533.2:n.848+242_848+245del
NM_001035.2:c.848+242_848+245del	NP_001026.2:n.848+242_848+245del
XM_006711802.2:c.848+242_848+245del	XP_006711865.1:n.848+242_848+245del
XM_006711803.2:c.848+242_848+245del	XP_006711866.1:n.848+242_848+245del
XM_006711804.2:c.848+242_848+245del	XP_006711867.1:n.848+242_848+245del
XM_006711805.2:c.848+242_848+245del	XP_006711868.1:n.848+242_848+245del
XM_006711806.2:c.848+242_848+245del	XP_006711869.1:n.848+242_848+245del
XM_006711807.2:c.848+242_848+245del	XP_006711870.1:n.848+242_848+245del
XM_006711808.2:c.848+242_848+245del	XP_006711871.1:n.848+242_848+245del
XM_006711809.2:c.848+242_848+245del	XP_006711872.1:n.848+242_848+245del
XM_006711810.2:c.848+242_848+245del	XP_006711873.1:n.848+242_848+245del
XR_949152.1:n.1129+242_1129+245del
XM_006711802.3:c.848+242_848+245del	XP_006711865.1:n.848+242_848+245del
XM_006711803.3:c.848+242_848+245del	XP_006711866.1:n.848+242_848+245del
XM_006711804.3:c.848+242_848+245del	XP_006711867.1:n.848+242_848+245del
XM_006711805.3:c.848+242_848+245del	XP_006711868.1:n.848+242_848+245del
XM_006711806.3:c.848+242_848+245del	XP_006711869.1:n.848+242_848+245del
XM_006711807.3:c.848+242_848+245del	XP_006711870.1:n.848+242_848+245del
XM_006711808.3:c.848+242_848+245del	XP_006711871.1:n.848+242_848+245del
XM_006711810.3:c.848+242_848+245del	XP_006711873.1:n.848+242_848+245del
XM_017002028.1:c.827+242_827+245del	XP_016857517.1:n.827+242_827+245del
XR_002957299.1:n.1162+242_1162+245del
XR_949152.2:n.1162+242_1162+245del
NM_001035.3:c.848+242_848+245del MANE Select	NP_001026.2:n.848+242_848+245del