Canonical Allele Identifier: CA2487493241

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808652_237808653delinsCT , CM000663.2:g.237808652_237808653delinsCT	GRCh38
NC_000001.10:g.237971952_237971953delinsCT , CM000663.1:g.237971952_237971953delinsCT	GRCh37
NC_000001.9:g.236038575_236038576delinsCT	NCBI36
NG_008799.2:g.771251_771252delinsCT
NG_008799.3:g.771469_771470delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5391-249_*5391-248delinsCT	ENSP00000499659.2:n.*5391-249_*5391-248delinsCT
ENST00000659194.3:c.14281-249_14281-248delinsCT	ENSP00000499653.3:n.14281-249_14281-248delinsCT
ENST00000660292.2:c.14320-249_14320-248delinsCT	ENSP00000499787.2:n.14320-249_14320-248delinsCT
ENST00000659194.2:c.6470-249_6470-248delinsCT
ENST00000366574.7:c.14299-249_14299-248delinsCT MANE Select	ENSP00000355533.2:n.14299-249_14299-248delinsCT
ENST00000360064.7:c.14248-249_14248-248delinsCT	ENSP00000353174.7:n.14248-249_14248-248delinsCT
ENST00000366574.6:c.14299-249_14299-248delinsCT	ENSP00000355533.2:n.14299-249_14299-248delinsCT
ENST00000608590.5:n.810-249_810-248delinsCT
NM_001035.2:c.14299-249_14299-248delinsCT	NP_001026.2:n.14299-249_14299-248delinsCT
XM_006711802.2:c.14353-249_14353-248delinsCT	XP_006711865.1:n.14353-249_14353-248delinsCT
XM_006711803.2:c.14350-249_14350-248delinsCT	XP_006711866.1:n.14350-249_14350-248delinsCT
XM_006711804.2:c.14329-249_14329-248delinsCT	XP_006711867.1:n.14329-249_14329-248delinsCT
XM_006711805.2:c.14323-249_14323-248delinsCT	XP_006711868.1:n.14323-249_14323-248delinsCT
XM_006711806.2:c.14317-249_14317-248delinsCT	XP_006711869.1:n.14317-249_14317-248delinsCT
XM_006711807.2:c.14293-249_14293-248delinsCT	XP_006711870.1:n.14293-249_14293-248delinsCT
XM_006711808.2:c.14116-249_14116-248delinsCT	XP_006711871.1:n.14116-249_14116-248delinsCT
XM_006711810.2:c.14260-249_14260-248delinsCT	XP_006711873.1:n.14260-249_14260-248delinsCT
XM_006711802.3:c.14353-249_14353-248delinsCT	XP_006711865.1:n.14353-249_14353-248delinsCT
XM_006711803.3:c.14350-249_14350-248delinsCT	XP_006711866.1:n.14350-249_14350-248delinsCT
XM_006711804.3:c.14329-249_14329-248delinsCT	XP_006711867.1:n.14329-249_14329-248delinsCT
XM_006711805.3:c.14323-249_14323-248delinsCT	XP_006711868.1:n.14323-249_14323-248delinsCT
XM_006711806.3:c.14317-249_14317-248delinsCT	XP_006711869.1:n.14317-249_14317-248delinsCT
XM_006711807.3:c.14293-249_14293-248delinsCT	XP_006711870.1:n.14293-249_14293-248delinsCT
XM_006711808.3:c.14116-249_14116-248delinsCT	XP_006711871.1:n.14116-249_14116-248delinsCT
XM_006711810.3:c.14260-249_14260-248delinsCT	XP_006711873.1:n.14260-249_14260-248delinsCT
XM_017002028.1:c.14332-249_14332-248delinsCT	XP_016857517.1:n.14332-249_14332-248delinsCT
NM_001035.3:c.14299-249_14299-248delinsCT MANE Select	NP_001026.2:n.14299-249_14299-248delinsCT