Canonical Allele Identifier: CA733286391

Gene: RYR2

Linked Data

• dbSNP Id: rs1206769431
• gnomAD v3: 1-237417421-T-TTG
• gnomAD v4: 1-237417421-T-TTG
• MyVariant Identifiers: chr1:g.237580721_237580722insTG (hg19) ; chr1:g.237417421_237417422insTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237417422_237417423dup , CM000663.2:g.237417422_237417423dup	GRCh38
NC_000001.10:g.237580722_237580723dup , CM000663.1:g.237580722_237580723dup	GRCh37
NC_000001.9:g.235647345_235647346dup	NCBI36
NG_008799.2:g.380021_380022dup
NG_008799.3:g.380239_380240dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.848+299_848+300dup	ENSP00000499659.2:n.848+299_848+300dup
ENST00000659194.3:c.848+299_848+300dup	ENSP00000499653.3:n.848+299_848+300dup
ENST00000660292.2:c.848+299_848+300dup	ENSP00000499787.2:n.848+299_848+300dup
ENST00000366574.7:c.848+299_848+300dup MANE Select	ENSP00000355533.2:n.848+299_848+300dup
ENST00000360064.7:c.800+299_800+300dup	ENSP00000353174.7:n.800+299_800+300dup
ENST00000366574.6:c.848+299_848+300dup	ENSP00000355533.2:n.848+299_848+300dup
NM_001035.2:c.848+299_848+300dup	NP_001026.2:n.848+299_848+300dup
XM_006711802.2:c.848+299_848+300dup	XP_006711865.1:n.848+299_848+300dup
XM_006711803.2:c.848+299_848+300dup	XP_006711866.1:n.848+299_848+300dup
XM_006711804.2:c.848+299_848+300dup	XP_006711867.1:n.848+299_848+300dup
XM_006711805.2:c.848+299_848+300dup	XP_006711868.1:n.848+299_848+300dup
XM_006711806.2:c.848+299_848+300dup	XP_006711869.1:n.848+299_848+300dup
XM_006711807.2:c.848+299_848+300dup	XP_006711870.1:n.848+299_848+300dup
XM_006711808.2:c.848+299_848+300dup	XP_006711871.1:n.848+299_848+300dup
XM_006711809.2:c.848+299_848+300dup	XP_006711872.1:n.848+299_848+300dup
XM_006711810.2:c.848+299_848+300dup	XP_006711873.1:n.848+299_848+300dup
XR_949152.1:n.1129+299_1129+300dup
XM_006711802.3:c.848+299_848+300dup	XP_006711865.1:n.848+299_848+300dup
XM_006711803.3:c.848+299_848+300dup	XP_006711866.1:n.848+299_848+300dup
XM_006711804.3:c.848+299_848+300dup	XP_006711867.1:n.848+299_848+300dup
XM_006711805.3:c.848+299_848+300dup	XP_006711868.1:n.848+299_848+300dup
XM_006711806.3:c.848+299_848+300dup	XP_006711869.1:n.848+299_848+300dup
XM_006711807.3:c.848+299_848+300dup	XP_006711870.1:n.848+299_848+300dup
XM_006711808.3:c.848+299_848+300dup	XP_006711871.1:n.848+299_848+300dup
XM_006711810.3:c.848+299_848+300dup	XP_006711873.1:n.848+299_848+300dup
XM_017002028.1:c.827+299_827+300dup	XP_016857517.1:n.827+299_827+300dup
XR_002957299.1:n.1162+299_1162+300dup
XR_949152.2:n.1162+299_1162+300dup
NM_001035.3:c.848+299_848+300dup MANE Select	NP_001026.2:n.848+299_848+300dup