Canonical Allele Identifier: CA2487493268

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808668_237808669delinsAC , CM000663.2:g.237808668_237808669delinsAC	GRCh38
NC_000001.10:g.237971968_237971969delinsAC , CM000663.1:g.237971968_237971969delinsAC	GRCh37
NC_000001.9:g.236038591_236038592delinsAC	NCBI36
NG_008799.2:g.771267_771268delinsAC
NG_008799.3:g.771485_771486delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5391-233_*5391-232delinsAC	ENSP00000499659.2:n.*5391-233_*5391-232delinsAC
ENST00000659194.3:c.14281-233_14281-232delinsAC	ENSP00000499653.3:n.14281-233_14281-232delinsAC
ENST00000660292.2:c.14320-233_14320-232delinsAC	ENSP00000499787.2:n.14320-233_14320-232delinsAC
ENST00000659194.2:c.6470-233_6470-232delinsAC
ENST00000366574.7:c.14299-233_14299-232delinsAC MANE Select	ENSP00000355533.2:n.14299-233_14299-232delinsAC
ENST00000360064.7:c.14248-233_14248-232delinsAC	ENSP00000353174.7:n.14248-233_14248-232delinsAC
ENST00000366574.6:c.14299-233_14299-232delinsAC	ENSP00000355533.2:n.14299-233_14299-232delinsAC
ENST00000608590.5:n.810-233_810-232delinsAC
NM_001035.2:c.14299-233_14299-232delinsAC	NP_001026.2:n.14299-233_14299-232delinsAC
XM_006711802.2:c.14353-233_14353-232delinsAC	XP_006711865.1:n.14353-233_14353-232delinsAC
XM_006711803.2:c.14350-233_14350-232delinsAC	XP_006711866.1:n.14350-233_14350-232delinsAC
XM_006711804.2:c.14329-233_14329-232delinsAC	XP_006711867.1:n.14329-233_14329-232delinsAC
XM_006711805.2:c.14323-233_14323-232delinsAC	XP_006711868.1:n.14323-233_14323-232delinsAC
XM_006711806.2:c.14317-233_14317-232delinsAC	XP_006711869.1:n.14317-233_14317-232delinsAC
XM_006711807.2:c.14293-233_14293-232delinsAC	XP_006711870.1:n.14293-233_14293-232delinsAC
XM_006711808.2:c.14116-233_14116-232delinsAC	XP_006711871.1:n.14116-233_14116-232delinsAC
XM_006711810.2:c.14260-233_14260-232delinsAC	XP_006711873.1:n.14260-233_14260-232delinsAC
XM_006711802.3:c.14353-233_14353-232delinsAC	XP_006711865.1:n.14353-233_14353-232delinsAC
XM_006711803.3:c.14350-233_14350-232delinsAC	XP_006711866.1:n.14350-233_14350-232delinsAC
XM_006711804.3:c.14329-233_14329-232delinsAC	XP_006711867.1:n.14329-233_14329-232delinsAC
XM_006711805.3:c.14323-233_14323-232delinsAC	XP_006711868.1:n.14323-233_14323-232delinsAC
XM_006711806.3:c.14317-233_14317-232delinsAC	XP_006711869.1:n.14317-233_14317-232delinsAC
XM_006711807.3:c.14293-233_14293-232delinsAC	XP_006711870.1:n.14293-233_14293-232delinsAC
XM_006711808.3:c.14116-233_14116-232delinsAC	XP_006711871.1:n.14116-233_14116-232delinsAC
XM_006711810.3:c.14260-233_14260-232delinsAC	XP_006711873.1:n.14260-233_14260-232delinsAC
XM_017002028.1:c.14332-233_14332-232delinsAC	XP_016857517.1:n.14332-233_14332-232delinsAC
NM_001035.3:c.14299-233_14299-232delinsAC MANE Select	NP_001026.2:n.14299-233_14299-232delinsAC