Canonical Allele Identifier: CA2487493270

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808669_237808684delinsCAAAATAAAATAAAAT , CM000663.2:g.237808669_237808684delinsCAAAATAAAATAAAAT	GRCh38
NC_000001.10:g.237971969_237971984delinsCAAAATAAAATAAAAT , CM000663.1:g.237971969_237971984delinsCAAAATAAAATAAAAT	GRCh37
NC_000001.9:g.236038592_236038607delinsCAAAATAAAATAAAAT	NCBI36
NG_008799.2:g.771268_771283delinsCAAAATAAAATAAAAT
NG_008799.3:g.771486_771501delinsCAAAATAAAATAAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5391-232_*5391-217delinsCAAAATAAAATAAAAT	ENSP00000499659.2:n.*5391-232_*5391-217delinsCAAAATAAAATAAAAT...
ENST00000659194.3:c.14281-232_14281-217delinsCAAAATAAAATAAAAT	ENSP00000499653.3:n.14281-232_14281-217delinsCAAAATAAAATAAAAT...
ENST00000660292.2:c.14320-232_14320-217delinsCAAAATAAAATAAAAT	ENSP00000499787.2:n.14320-232_14320-217delinsCAAAATAAAATAAAAT...
ENST00000659194.2:c.6470-232_6470-217delinsCAAAATAAAATAAAAT
ENST00000366574.7:c.14299-232_14299-217delinsCAAAATAAAATAAAAT MANE Select	ENSP00000355533.2:n.14299-232_14299-217delinsCAAAATAAAATAAAAT...
ENST00000360064.7:c.14248-232_14248-217delinsCAAAATAAAATAAAAT	ENSP00000353174.7:n.14248-232_14248-217delinsCAAAATAAAATAAAAT...
ENST00000366574.6:c.14299-232_14299-217delinsCAAAATAAAATAAAAT	ENSP00000355533.2:n.14299-232_14299-217delinsCAAAATAAAATAAAAT...
ENST00000608590.5:n.810-232_810-217delinsCAAAATAAAATAAAAT
NM_001035.2:c.14299-232_14299-217delinsCAAAATAAAATAAAAT	NP_001026.2:n.14299-232_14299-217delinsCAAAATAAAATAAAAT
XM_006711802.2:c.14353-232_14353-217delinsCAAAATAAAATAAAAT	XP_006711865.1:n.14353-232_14353-217delinsCAAAATAAAATAAAAT
XM_006711803.2:c.14350-232_14350-217delinsCAAAATAAAATAAAAT	XP_006711866.1:n.14350-232_14350-217delinsCAAAATAAAATAAAAT
XM_006711804.2:c.14329-232_14329-217delinsCAAAATAAAATAAAAT	XP_006711867.1:n.14329-232_14329-217delinsCAAAATAAAATAAAAT
XM_006711805.2:c.14323-232_14323-217delinsCAAAATAAAATAAAAT	XP_006711868.1:n.14323-232_14323-217delinsCAAAATAAAATAAAAT
XM_006711806.2:c.14317-232_14317-217delinsCAAAATAAAATAAAAT	XP_006711869.1:n.14317-232_14317-217delinsCAAAATAAAATAAAAT
XM_006711807.2:c.14293-232_14293-217delinsCAAAATAAAATAAAAT	XP_006711870.1:n.14293-232_14293-217delinsCAAAATAAAATAAAAT
XM_006711808.2:c.14116-232_14116-217delinsCAAAATAAAATAAAAT	XP_006711871.1:n.14116-232_14116-217delinsCAAAATAAAATAAAAT
XM_006711810.2:c.14260-232_14260-217delinsCAAAATAAAATAAAAT	XP_006711873.1:n.14260-232_14260-217delinsCAAAATAAAATAAAAT
XM_006711802.3:c.14353-232_14353-217delinsCAAAATAAAATAAAAT	XP_006711865.1:n.14353-232_14353-217delinsCAAAATAAAATAAAAT
XM_006711803.3:c.14350-232_14350-217delinsCAAAATAAAATAAAAT	XP_006711866.1:n.14350-232_14350-217delinsCAAAATAAAATAAAAT
XM_006711804.3:c.14329-232_14329-217delinsCAAAATAAAATAAAAT	XP_006711867.1:n.14329-232_14329-217delinsCAAAATAAAATAAAAT
XM_006711805.3:c.14323-232_14323-217delinsCAAAATAAAATAAAAT	XP_006711868.1:n.14323-232_14323-217delinsCAAAATAAAATAAAAT
XM_006711806.3:c.14317-232_14317-217delinsCAAAATAAAATAAAAT	XP_006711869.1:n.14317-232_14317-217delinsCAAAATAAAATAAAAT
XM_006711807.3:c.14293-232_14293-217delinsCAAAATAAAATAAAAT	XP_006711870.1:n.14293-232_14293-217delinsCAAAATAAAATAAAAT
XM_006711808.3:c.14116-232_14116-217delinsCAAAATAAAATAAAAT	XP_006711871.1:n.14116-232_14116-217delinsCAAAATAAAATAAAAT
XM_006711810.3:c.14260-232_14260-217delinsCAAAATAAAATAAAAT	XP_006711873.1:n.14260-232_14260-217delinsCAAAATAAAATAAAAT
XM_017002028.1:c.14332-232_14332-217delinsCAAAATAAAATAAAAT	XP_016857517.1:n.14332-232_14332-217delinsCAAAATAAAATAAAAT
NM_001035.3:c.14299-232_14299-217delinsCAAAATAAAATAAAAT MANE Select	NP_001026.2:n.14299-232_14299-217delinsCAAAATAAAATAAAAT