Canonical Allele Identifier: CA2487493262

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808665_237808674delinsAAAACAAAAT , CM000663.2:g.237808665_237808674delinsAAAACAAAAT	GRCh38
NC_000001.10:g.237971965_237971974delinsAAAACAAAAT , CM000663.1:g.237971965_237971974delinsAAAACAAAAT	GRCh37
NC_000001.9:g.236038588_236038597delinsAAAACAAAAT	NCBI36
NG_008799.2:g.771264_771273delinsAAAACAAAAT
NG_008799.3:g.771482_771491delinsAAAACAAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5391-236_*5391-227delinsAAAACAAAAT	ENSP00000499659.2:n.*5391-236_*5391-227delinsAAAACAAAAT
ENST00000659194.3:c.14281-236_14281-227delinsAAAACAAAAT	ENSP00000499653.3:n.14281-236_14281-227delinsAAAACAAAAT
ENST00000660292.2:c.14320-236_14320-227delinsAAAACAAAAT	ENSP00000499787.2:n.14320-236_14320-227delinsAAAACAAAAT
ENST00000659194.2:c.6470-236_6470-227delinsAAAACAAAAT
ENST00000366574.7:c.14299-236_14299-227delinsAAAACAAAAT MANE Select	ENSP00000355533.2:n.14299-236_14299-227delinsAAAACAAAAT
ENST00000360064.7:c.14248-236_14248-227delinsAAAACAAAAT	ENSP00000353174.7:n.14248-236_14248-227delinsAAAACAAAAT
ENST00000366574.6:c.14299-236_14299-227delinsAAAACAAAAT	ENSP00000355533.2:n.14299-236_14299-227delinsAAAACAAAAT
ENST00000608590.5:n.810-236_810-227delinsAAAACAAAAT
NM_001035.2:c.14299-236_14299-227delinsAAAACAAAAT	NP_001026.2:n.14299-236_14299-227delinsAAAACAAAAT
XM_006711802.2:c.14353-236_14353-227delinsAAAACAAAAT	XP_006711865.1:n.14353-236_14353-227delinsAAAACAAAAT
XM_006711803.2:c.14350-236_14350-227delinsAAAACAAAAT	XP_006711866.1:n.14350-236_14350-227delinsAAAACAAAAT
XM_006711804.2:c.14329-236_14329-227delinsAAAACAAAAT	XP_006711867.1:n.14329-236_14329-227delinsAAAACAAAAT
XM_006711805.2:c.14323-236_14323-227delinsAAAACAAAAT	XP_006711868.1:n.14323-236_14323-227delinsAAAACAAAAT
XM_006711806.2:c.14317-236_14317-227delinsAAAACAAAAT	XP_006711869.1:n.14317-236_14317-227delinsAAAACAAAAT
XM_006711807.2:c.14293-236_14293-227delinsAAAACAAAAT	XP_006711870.1:n.14293-236_14293-227delinsAAAACAAAAT
XM_006711808.2:c.14116-236_14116-227delinsAAAACAAAAT	XP_006711871.1:n.14116-236_14116-227delinsAAAACAAAAT
XM_006711810.2:c.14260-236_14260-227delinsAAAACAAAAT	XP_006711873.1:n.14260-236_14260-227delinsAAAACAAAAT
XM_006711802.3:c.14353-236_14353-227delinsAAAACAAAAT	XP_006711865.1:n.14353-236_14353-227delinsAAAACAAAAT
XM_006711803.3:c.14350-236_14350-227delinsAAAACAAAAT	XP_006711866.1:n.14350-236_14350-227delinsAAAACAAAAT
XM_006711804.3:c.14329-236_14329-227delinsAAAACAAAAT	XP_006711867.1:n.14329-236_14329-227delinsAAAACAAAAT
XM_006711805.3:c.14323-236_14323-227delinsAAAACAAAAT	XP_006711868.1:n.14323-236_14323-227delinsAAAACAAAAT
XM_006711806.3:c.14317-236_14317-227delinsAAAACAAAAT	XP_006711869.1:n.14317-236_14317-227delinsAAAACAAAAT
XM_006711807.3:c.14293-236_14293-227delinsAAAACAAAAT	XP_006711870.1:n.14293-236_14293-227delinsAAAACAAAAT
XM_006711808.3:c.14116-236_14116-227delinsAAAACAAAAT	XP_006711871.1:n.14116-236_14116-227delinsAAAACAAAAT
XM_006711810.3:c.14260-236_14260-227delinsAAAACAAAAT	XP_006711873.1:n.14260-236_14260-227delinsAAAACAAAAT
XM_017002028.1:c.14332-236_14332-227delinsAAAACAAAAT	XP_016857517.1:n.14332-236_14332-227delinsAAAACAAAAT
NM_001035.3:c.14299-236_14299-227delinsAAAACAAAAT MANE Select	NP_001026.2:n.14299-236_14299-227delinsAAAACAAAAT