Canonical Allele Identifier: CA2487493238

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808650_237808654delinsGTCTC , CM000663.2:g.237808650_237808654delinsGTCTC	GRCh38
NC_000001.10:g.237971950_237971954delinsGTCTC , CM000663.1:g.237971950_237971954delinsGTCTC	GRCh37
NC_000001.9:g.236038573_236038577delinsGTCTC	NCBI36
NG_008799.2:g.771249_771253delinsGTCTC
NG_008799.3:g.771467_771471delinsGTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5391-251_*5391-247delinsGTCTC	ENSP00000499659.2:n.*5391-251_*5391-247delinsGTCTC
ENST00000659194.3:c.14281-251_14281-247delinsGTCTC	ENSP00000499653.3:n.14281-251_14281-247delinsGTCTC
ENST00000660292.2:c.14320-251_14320-247delinsGTCTC	ENSP00000499787.2:n.14320-251_14320-247delinsGTCTC
ENST00000659194.2:c.6470-251_6470-247delinsGTCTC
ENST00000366574.7:c.14299-251_14299-247delinsGTCTC MANE Select	ENSP00000355533.2:n.14299-251_14299-247delinsGTCTC
ENST00000360064.7:c.14248-251_14248-247delinsGTCTC	ENSP00000353174.7:n.14248-251_14248-247delinsGTCTC
ENST00000366574.6:c.14299-251_14299-247delinsGTCTC	ENSP00000355533.2:n.14299-251_14299-247delinsGTCTC
ENST00000608590.5:n.810-251_810-247delinsGTCTC
NM_001035.2:c.14299-251_14299-247delinsGTCTC	NP_001026.2:n.14299-251_14299-247delinsGTCTC
XM_006711802.2:c.14353-251_14353-247delinsGTCTC	XP_006711865.1:n.14353-251_14353-247delinsGTCTC
XM_006711803.2:c.14350-251_14350-247delinsGTCTC	XP_006711866.1:n.14350-251_14350-247delinsGTCTC
XM_006711804.2:c.14329-251_14329-247delinsGTCTC	XP_006711867.1:n.14329-251_14329-247delinsGTCTC
XM_006711805.2:c.14323-251_14323-247delinsGTCTC	XP_006711868.1:n.14323-251_14323-247delinsGTCTC
XM_006711806.2:c.14317-251_14317-247delinsGTCTC	XP_006711869.1:n.14317-251_14317-247delinsGTCTC
XM_006711807.2:c.14293-251_14293-247delinsGTCTC	XP_006711870.1:n.14293-251_14293-247delinsGTCTC
XM_006711808.2:c.14116-251_14116-247delinsGTCTC	XP_006711871.1:n.14116-251_14116-247delinsGTCTC
XM_006711810.2:c.14260-251_14260-247delinsGTCTC	XP_006711873.1:n.14260-251_14260-247delinsGTCTC
XM_006711802.3:c.14353-251_14353-247delinsGTCTC	XP_006711865.1:n.14353-251_14353-247delinsGTCTC
XM_006711803.3:c.14350-251_14350-247delinsGTCTC	XP_006711866.1:n.14350-251_14350-247delinsGTCTC
XM_006711804.3:c.14329-251_14329-247delinsGTCTC	XP_006711867.1:n.14329-251_14329-247delinsGTCTC
XM_006711805.3:c.14323-251_14323-247delinsGTCTC	XP_006711868.1:n.14323-251_14323-247delinsGTCTC
XM_006711806.3:c.14317-251_14317-247delinsGTCTC	XP_006711869.1:n.14317-251_14317-247delinsGTCTC
XM_006711807.3:c.14293-251_14293-247delinsGTCTC	XP_006711870.1:n.14293-251_14293-247delinsGTCTC
XM_006711808.3:c.14116-251_14116-247delinsGTCTC	XP_006711871.1:n.14116-251_14116-247delinsGTCTC
XM_006711810.3:c.14260-251_14260-247delinsGTCTC	XP_006711873.1:n.14260-251_14260-247delinsGTCTC
XM_017002028.1:c.14332-251_14332-247delinsGTCTC	XP_016857517.1:n.14332-251_14332-247delinsGTCTC
NM_001035.3:c.14299-251_14299-247delinsGTCTC MANE Select	NP_001026.2:n.14299-251_14299-247delinsGTCTC