Canonical Allele Identifier: CA529552235

Gene: RYR2

Linked Data

• dbSNP Id: rs1173127501
• gnomAD v2: 1-237852093-GCTAT-G
• gnomAD v3: 1-237688793-GCTAT-G
• gnomAD v4: 1-237688793-GCTAT-G
• MyVariant Identifiers: chr1:g.237852094_237852097del (hg19) ; chr1:g.237688794_237688797del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237688797_237688800del , CM000663.2:g.237688797_237688800del	GRCh38
NC_000001.10:g.237852097_237852100del , CM000663.1:g.237852097_237852100del	GRCh37
NC_000001.9:g.235918720_235918723del	NCBI36
NG_008799.2:g.651396_651399del
NG_008799.3:g.651614_651617del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*102+8220_*102+8223del	ENSP00000499659.2:n.*102+8220_*102+8223del
ENST00000659194.3:c.9067+1293_9067+1296del	ENSP00000499653.3:n.9067+1293_9067+1296del
ENST00000660292.2:c.9067+1293_9067+1296del	ENSP00000499787.2:n.9067+1293_9067+1296del
ENST00000659194.2:c.1256+1293_1256+1296del
ENST00000366574.7:c.9067+1293_9067+1296del MANE Select	ENSP00000355533.2:n.9067+1293_9067+1296del
ENST00000659194.1:c.1256+1293_1256+1296del
ENST00000360064.7:c.9019+1293_9019+1296del	ENSP00000353174.7:n.9019+1293_9019+1296del
ENST00000366574.6:c.9067+1293_9067+1296del	ENSP00000355533.2:n.9067+1293_9067+1296del
ENST00000609119.1:n.205+8220_205+8223del
NM_001035.2:c.9067+1293_9067+1296del	NP_001026.2:n.9067+1293_9067+1296del
XM_006711802.2:c.9097+1293_9097+1296del	XP_006711865.1:n.9097+1293_9097+1296del
XM_006711803.2:c.9094+1293_9094+1296del	XP_006711866.1:n.9094+1293_9094+1296del
XM_006711804.2:c.9097+1293_9097+1296del	XP_006711867.1:n.9097+1293_9097+1296del
XM_006711805.2:c.9067+1293_9067+1296del	XP_006711868.1:n.9067+1293_9067+1296del
XM_006711806.2:c.9097+1293_9097+1296del	XP_006711869.1:n.9097+1293_9097+1296del
XM_006711807.2:c.9097+1293_9097+1296del	XP_006711870.1:n.9097+1293_9097+1296del
XM_006711808.2:c.8861-10168_8861-10165del	XP_006711871.1:n.8861-10168_8861-10165del
XM_006711810.2:c.9064+1293_9064+1296del	XP_006711873.1:n.9064+1293_9064+1296del
XR_949152.1:n.9328+8220_9328+8223del
XM_006711802.3:c.9097+1293_9097+1296del	XP_006711865.1:n.9097+1293_9097+1296del
XM_006711803.3:c.9094+1293_9094+1296del	XP_006711866.1:n.9094+1293_9094+1296del
XM_006711804.3:c.9097+1293_9097+1296del	XP_006711867.1:n.9097+1293_9097+1296del
XM_006711805.3:c.9067+1293_9067+1296del	XP_006711868.1:n.9067+1293_9067+1296del
XM_006711806.3:c.9097+1293_9097+1296del	XP_006711869.1:n.9097+1293_9097+1296del
XM_006711807.3:c.9097+1293_9097+1296del	XP_006711870.1:n.9097+1293_9097+1296del
XM_006711808.3:c.8861-10168_8861-10165del	XP_006711871.1:n.8861-10168_8861-10165del
XM_006711810.3:c.9064+1293_9064+1296del	XP_006711873.1:n.9064+1293_9064+1296del
XM_017002028.1:c.9076+1293_9076+1296del	XP_016857517.1:n.9076+1293_9076+1296del
XR_949152.2:n.9361+8220_9361+8223del
NM_001035.3:c.9067+1293_9067+1296del MANE Select	NP_001026.2:n.9067+1293_9067+1296del