Canonical Allele Identifier: CA2487493248

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808654_237808664delinsCAAAAAAAAAA , CM000663.2:g.237808654_237808664delinsCAAAAAAAAAA	GRCh38
NC_000001.10:g.237971954_237971964delinsCAAAAAAAAAA , CM000663.1:g.237971954_237971964delinsCAAAAAAAAAA	GRCh37
NC_000001.9:g.236038577_236038587delinsCAAAAAAAAAA	NCBI36
NG_008799.2:g.771253_771263delinsCAAAAAAAAAA
NG_008799.3:g.771471_771481delinsCAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5391-247_*5391-237delinsCAAAAAAAAAA	ENSP00000499659.2:n.*5391-247_*5391-237delinsCAAAAAAAAAA
ENST00000659194.3:c.14281-247_14281-237delinsCAAAAAAAAAA	ENSP00000499653.3:n.14281-247_14281-237delinsCAAAAAAAAAA
ENST00000660292.2:c.14320-247_14320-237delinsCAAAAAAAAAA	ENSP00000499787.2:n.14320-247_14320-237delinsCAAAAAAAAAA
ENST00000659194.2:c.6470-247_6470-237delinsCAAAAAAAAAA
ENST00000366574.7:c.14299-247_14299-237delinsCAAAAAAAAAA MANE Select	ENSP00000355533.2:n.14299-247_14299-237delinsCAAAAAAAAAA
ENST00000360064.7:c.14248-247_14248-237delinsCAAAAAAAAAA	ENSP00000353174.7:n.14248-247_14248-237delinsCAAAAAAAAAA
ENST00000366574.6:c.14299-247_14299-237delinsCAAAAAAAAAA	ENSP00000355533.2:n.14299-247_14299-237delinsCAAAAAAAAAA
ENST00000608590.5:n.810-247_810-237delinsCAAAAAAAAAA
NM_001035.2:c.14299-247_14299-237delinsCAAAAAAAAAA	NP_001026.2:n.14299-247_14299-237delinsCAAAAAAAAAA
XM_006711802.2:c.14353-247_14353-237delinsCAAAAAAAAAA	XP_006711865.1:n.14353-247_14353-237delinsCAAAAAAAAAA
XM_006711803.2:c.14350-247_14350-237delinsCAAAAAAAAAA	XP_006711866.1:n.14350-247_14350-237delinsCAAAAAAAAAA
XM_006711804.2:c.14329-247_14329-237delinsCAAAAAAAAAA	XP_006711867.1:n.14329-247_14329-237delinsCAAAAAAAAAA
XM_006711805.2:c.14323-247_14323-237delinsCAAAAAAAAAA	XP_006711868.1:n.14323-247_14323-237delinsCAAAAAAAAAA
XM_006711806.2:c.14317-247_14317-237delinsCAAAAAAAAAA	XP_006711869.1:n.14317-247_14317-237delinsCAAAAAAAAAA
XM_006711807.2:c.14293-247_14293-237delinsCAAAAAAAAAA	XP_006711870.1:n.14293-247_14293-237delinsCAAAAAAAAAA
XM_006711808.2:c.14116-247_14116-237delinsCAAAAAAAAAA	XP_006711871.1:n.14116-247_14116-237delinsCAAAAAAAAAA
XM_006711810.2:c.14260-247_14260-237delinsCAAAAAAAAAA	XP_006711873.1:n.14260-247_14260-237delinsCAAAAAAAAAA
XM_006711802.3:c.14353-247_14353-237delinsCAAAAAAAAAA	XP_006711865.1:n.14353-247_14353-237delinsCAAAAAAAAAA
XM_006711803.3:c.14350-247_14350-237delinsCAAAAAAAAAA	XP_006711866.1:n.14350-247_14350-237delinsCAAAAAAAAAA
XM_006711804.3:c.14329-247_14329-237delinsCAAAAAAAAAA	XP_006711867.1:n.14329-247_14329-237delinsCAAAAAAAAAA
XM_006711805.3:c.14323-247_14323-237delinsCAAAAAAAAAA	XP_006711868.1:n.14323-247_14323-237delinsCAAAAAAAAAA
XM_006711806.3:c.14317-247_14317-237delinsCAAAAAAAAAA	XP_006711869.1:n.14317-247_14317-237delinsCAAAAAAAAAA
XM_006711807.3:c.14293-247_14293-237delinsCAAAAAAAAAA	XP_006711870.1:n.14293-247_14293-237delinsCAAAAAAAAAA
XM_006711808.3:c.14116-247_14116-237delinsCAAAAAAAAAA	XP_006711871.1:n.14116-247_14116-237delinsCAAAAAAAAAA
XM_006711810.3:c.14260-247_14260-237delinsCAAAAAAAAAA	XP_006711873.1:n.14260-247_14260-237delinsCAAAAAAAAAA
XM_017002028.1:c.14332-247_14332-237delinsCAAAAAAAAAA	XP_016857517.1:n.14332-247_14332-237delinsCAAAAAAAAAA
NM_001035.3:c.14299-247_14299-237delinsCAAAAAAAAAA MANE Select	NP_001026.2:n.14299-247_14299-237delinsCAAAAAAAAAA