Canonical Allele Identifier: CA1013769646

Gene: RYR2

Linked Data

• gnomAD v3: 1-237808643-A-AGC
• gnomAD v4: 1-237808643-A-AGC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808643_237808644insGC , CM000663.2:g.237808643_237808644insGC	GRCh38
NC_000001.10:g.237971943_237971944insGC , CM000663.1:g.237971943_237971944insGC	GRCh37
NC_000001.9:g.236038566_236038567insGC	NCBI36
NG_008799.2:g.771242_771243insGC
NG_008799.3:g.771460_771461insGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5391-258_*5391-257insGC	ENSP00000499659.2:n.*5391-258_*5391-257insGC
ENST00000659194.3:c.14281-258_14281-257insGC	ENSP00000499653.3:n.14281-258_14281-257insGC
ENST00000660292.2:c.14320-258_14320-257insGC	ENSP00000499787.2:n.14320-258_14320-257insGC
ENST00000659194.2:c.6470-258_6470-257insGC
ENST00000366574.7:c.14299-258_14299-257insGC MANE Select	ENSP00000355533.2:n.14299-258_14299-257insGC
ENST00000360064.7:c.14248-258_14248-257insGC	ENSP00000353174.7:n.14248-258_14248-257insGC
ENST00000366574.6:c.14299-258_14299-257insGC	ENSP00000355533.2:n.14299-258_14299-257insGC
ENST00000608590.5:n.810-258_810-257insGC
NM_001035.2:c.14299-258_14299-257insGC	NP_001026.2:n.14299-258_14299-257insGC
XM_006711802.2:c.14353-258_14353-257insGC	XP_006711865.1:n.14353-258_14353-257insGC
XM_006711803.2:c.14350-258_14350-257insGC	XP_006711866.1:n.14350-258_14350-257insGC
XM_006711804.2:c.14329-258_14329-257insGC	XP_006711867.1:n.14329-258_14329-257insGC
XM_006711805.2:c.14323-258_14323-257insGC	XP_006711868.1:n.14323-258_14323-257insGC
XM_006711806.2:c.14317-258_14317-257insGC	XP_006711869.1:n.14317-258_14317-257insGC
XM_006711807.2:c.14293-258_14293-257insGC	XP_006711870.1:n.14293-258_14293-257insGC
XM_006711808.2:c.14116-258_14116-257insGC	XP_006711871.1:n.14116-258_14116-257insGC
XM_006711810.2:c.14260-258_14260-257insGC	XP_006711873.1:n.14260-258_14260-257insGC
XM_006711802.3:c.14353-258_14353-257insGC	XP_006711865.1:n.14353-258_14353-257insGC
XM_006711803.3:c.14350-258_14350-257insGC	XP_006711866.1:n.14350-258_14350-257insGC
XM_006711804.3:c.14329-258_14329-257insGC	XP_006711867.1:n.14329-258_14329-257insGC
XM_006711805.3:c.14323-258_14323-257insGC	XP_006711868.1:n.14323-258_14323-257insGC
XM_006711806.3:c.14317-258_14317-257insGC	XP_006711869.1:n.14317-258_14317-257insGC
XM_006711807.3:c.14293-258_14293-257insGC	XP_006711870.1:n.14293-258_14293-257insGC
XM_006711808.3:c.14116-258_14116-257insGC	XP_006711871.1:n.14116-258_14116-257insGC
XM_006711810.3:c.14260-258_14260-257insGC	XP_006711873.1:n.14260-258_14260-257insGC
XM_017002028.1:c.14332-258_14332-257insGC	XP_016857517.1:n.14332-258_14332-257insGC
NM_001035.3:c.14299-258_14299-257insGC MANE Select	NP_001026.2:n.14299-258_14299-257insGC