Canonical Allele Identifier: CA529536602

Gene: RYR2

Linked Data

• dbSNP Id: rs1419380134
• gnomAD v2: 1-237579952-TATTAA-T
• gnomAD v3: 1-237416652-TATTAA-T
• gnomAD v4: 1-237416652-TATTAA-T
• MyVariant Identifiers: chr1:g.237579953_237579957del (hg19) ; chr1:g.237416653_237416657del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237416654_237416658del , CM000663.2:g.237416654_237416658del	GRCh38
NC_000001.10:g.237579954_237579958del , CM000663.1:g.237579954_237579958del	GRCh37
NC_000001.9:g.235646577_235646581del	NCBI36
NG_008799.2:g.379253_379257del
NG_008799.3:g.379471_379475del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.774-395_774-391del	ENSP00000499659.2:n.774-395_774-391del
ENST00000659194.3:c.774-395_774-391del	ENSP00000499653.3:n.774-395_774-391del
ENST00000660292.2:c.774-395_774-391del	ENSP00000499787.2:n.774-395_774-391del
ENST00000366574.7:c.774-395_774-391del MANE Select	ENSP00000355533.2:n.774-395_774-391del
ENST00000360064.7:c.726-395_726-391del	ENSP00000353174.7:n.726-395_726-391del
ENST00000366574.6:c.774-395_774-391del	ENSP00000355533.2:n.774-395_774-391del
NM_001035.2:c.774-395_774-391del	NP_001026.2:n.774-395_774-391del
XM_006711802.2:c.774-395_774-391del	XP_006711865.1:n.774-395_774-391del
XM_006711803.2:c.774-395_774-391del	XP_006711866.1:n.774-395_774-391del
XM_006711804.2:c.774-395_774-391del	XP_006711867.1:n.774-395_774-391del
XM_006711805.2:c.774-395_774-391del	XP_006711868.1:n.774-395_774-391del
XM_006711806.2:c.774-395_774-391del	XP_006711869.1:n.774-395_774-391del
XM_006711807.2:c.774-395_774-391del	XP_006711870.1:n.774-395_774-391del
XM_006711808.2:c.774-395_774-391del	XP_006711871.1:n.774-395_774-391del
XM_006711809.2:c.774-395_774-391del	XP_006711872.1:n.774-395_774-391del
XM_006711810.2:c.774-395_774-391del	XP_006711873.1:n.774-395_774-391del
XR_949152.1:n.1055-395_1055-391del
XM_006711802.3:c.774-395_774-391del	XP_006711865.1:n.774-395_774-391del
XM_006711803.3:c.774-395_774-391del	XP_006711866.1:n.774-395_774-391del
XM_006711804.3:c.774-395_774-391del	XP_006711867.1:n.774-395_774-391del
XM_006711805.3:c.774-395_774-391del	XP_006711868.1:n.774-395_774-391del
XM_006711806.3:c.774-395_774-391del	XP_006711869.1:n.774-395_774-391del
XM_006711807.3:c.774-395_774-391del	XP_006711870.1:n.774-395_774-391del
XM_006711808.3:c.774-395_774-391del	XP_006711871.1:n.774-395_774-391del
XM_006711810.3:c.774-395_774-391del	XP_006711873.1:n.774-395_774-391del
XM_017002028.1:c.753-395_753-391del	XP_016857517.1:n.753-395_753-391del
XR_002957299.1:n.1088-395_1088-391del
XR_949152.2:n.1088-395_1088-391del
NM_001035.3:c.774-395_774-391del MANE Select	NP_001026.2:n.774-395_774-391del