Canonical Allele Identifier: CA2487493289

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808692_237808694delinsAAT , CM000663.2:g.237808692_237808694delinsAAT	GRCh38
NC_000001.10:g.237971992_237971994delinsAAT , CM000663.1:g.237971992_237971994delinsAAT	GRCh37
NC_000001.9:g.236038615_236038617delinsAAT	NCBI36
NG_008799.2:g.771291_771293delinsAAT
NG_008799.3:g.771509_771511delinsAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5391-209_*5391-207delinsAAT	ENSP00000499659.2:n.*5391-209_*5391-207delinsAAT
ENST00000659194.3:c.14281-209_14281-207delinsAAT	ENSP00000499653.3:n.14281-209_14281-207delinsAAT
ENST00000660292.2:c.14320-209_14320-207delinsAAT	ENSP00000499787.2:n.14320-209_14320-207delinsAAT
ENST00000659194.2:c.6470-209_6470-207delinsAAT
ENST00000366574.7:c.14299-209_14299-207delinsAAT MANE Select	ENSP00000355533.2:n.14299-209_14299-207delinsAAT
ENST00000360064.7:c.14248-209_14248-207delinsAAT	ENSP00000353174.7:n.14248-209_14248-207delinsAAT
ENST00000366574.6:c.14299-209_14299-207delinsAAT	ENSP00000355533.2:n.14299-209_14299-207delinsAAT
ENST00000608590.5:n.810-209_810-207delinsAAT
NM_001035.2:c.14299-209_14299-207delinsAAT	NP_001026.2:n.14299-209_14299-207delinsAAT
XM_006711802.2:c.14353-209_14353-207delinsAAT	XP_006711865.1:n.14353-209_14353-207delinsAAT
XM_006711803.2:c.14350-209_14350-207delinsAAT	XP_006711866.1:n.14350-209_14350-207delinsAAT
XM_006711804.2:c.14329-209_14329-207delinsAAT	XP_006711867.1:n.14329-209_14329-207delinsAAT
XM_006711805.2:c.14323-209_14323-207delinsAAT	XP_006711868.1:n.14323-209_14323-207delinsAAT
XM_006711806.2:c.14317-209_14317-207delinsAAT	XP_006711869.1:n.14317-209_14317-207delinsAAT
XM_006711807.2:c.14293-209_14293-207delinsAAT	XP_006711870.1:n.14293-209_14293-207delinsAAT
XM_006711808.2:c.14116-209_14116-207delinsAAT	XP_006711871.1:n.14116-209_14116-207delinsAAT
XM_006711810.2:c.14260-209_14260-207delinsAAT	XP_006711873.1:n.14260-209_14260-207delinsAAT
XM_006711802.3:c.14353-209_14353-207delinsAAT	XP_006711865.1:n.14353-209_14353-207delinsAAT
XM_006711803.3:c.14350-209_14350-207delinsAAT	XP_006711866.1:n.14350-209_14350-207delinsAAT
XM_006711804.3:c.14329-209_14329-207delinsAAT	XP_006711867.1:n.14329-209_14329-207delinsAAT
XM_006711805.3:c.14323-209_14323-207delinsAAT	XP_006711868.1:n.14323-209_14323-207delinsAAT
XM_006711806.3:c.14317-209_14317-207delinsAAT	XP_006711869.1:n.14317-209_14317-207delinsAAT
XM_006711807.3:c.14293-209_14293-207delinsAAT	XP_006711870.1:n.14293-209_14293-207delinsAAT
XM_006711808.3:c.14116-209_14116-207delinsAAT	XP_006711871.1:n.14116-209_14116-207delinsAAT
XM_006711810.3:c.14260-209_14260-207delinsAAT	XP_006711873.1:n.14260-209_14260-207delinsAAT
XM_017002028.1:c.14332-209_14332-207delinsAAT	XP_016857517.1:n.14332-209_14332-207delinsAAT
NM_001035.3:c.14299-209_14299-207delinsAAT MANE Select	NP_001026.2:n.14299-209_14299-207delinsAAT