Canonical Allele Identifier: CA1013769759

Gene: RYR2

Linked Data

• gnomAD v3: 1-237808654-C-CAAATAAAAA
• gnomAD v4: 1-237808654-C-CAAATAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808657_237808658insTAAAAAAAA , CM000663.2:g.237808657_237808658insTAAAAAAAA	GRCh38
NC_000001.10:g.237971957_237971958insTAAAAAAAA , CM000663.1:g.237971957_237971958insTAAAAAAAA	GRCh37
NC_000001.9:g.236038580_236038581insTAAAAAAAA	NCBI36
NG_008799.2:g.771256_771257insTAAAAAAAA
NG_008799.3:g.771474_771475insTAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5391-244_*5391-243insTAAAAAAAA	ENSP00000499659.2:n.*5391-244_*5391-243insTAAAAAAAA
ENST00000659194.3:c.14281-244_14281-243insTAAAAAAAA	ENSP00000499653.3:n.14281-244_14281-243insTAAAAAAAA
ENST00000660292.2:c.14320-244_14320-243insTAAAAAAAA	ENSP00000499787.2:n.14320-244_14320-243insTAAAAAAAA
ENST00000659194.2:c.6470-244_6470-243insTAAAAAAAA
ENST00000366574.7:c.14299-244_14299-243insTAAAAAAAA MANE Select	ENSP00000355533.2:n.14299-244_14299-243insTAAAAAAAA
ENST00000360064.7:c.14248-244_14248-243insTAAAAAAAA	ENSP00000353174.7:n.14248-244_14248-243insTAAAAAAAA
ENST00000366574.6:c.14299-244_14299-243insTAAAAAAAA	ENSP00000355533.2:n.14299-244_14299-243insTAAAAAAAA
ENST00000608590.5:n.810-244_810-243insTAAAAAAAA
NM_001035.2:c.14299-244_14299-243insTAAAAAAAA	NP_001026.2:n.14299-244_14299-243insTAAAAAAAA
XM_006711802.2:c.14353-244_14353-243insTAAAAAAAA	XP_006711865.1:n.14353-244_14353-243insTAAAAAAAA
XM_006711803.2:c.14350-244_14350-243insTAAAAAAAA	XP_006711866.1:n.14350-244_14350-243insTAAAAAAAA
XM_006711804.2:c.14329-244_14329-243insTAAAAAAAA	XP_006711867.1:n.14329-244_14329-243insTAAAAAAAA
XM_006711805.2:c.14323-244_14323-243insTAAAAAAAA	XP_006711868.1:n.14323-244_14323-243insTAAAAAAAA
XM_006711806.2:c.14317-244_14317-243insTAAAAAAAA	XP_006711869.1:n.14317-244_14317-243insTAAAAAAAA
XM_006711807.2:c.14293-244_14293-243insTAAAAAAAA	XP_006711870.1:n.14293-244_14293-243insTAAAAAAAA
XM_006711808.2:c.14116-244_14116-243insTAAAAAAAA	XP_006711871.1:n.14116-244_14116-243insTAAAAAAAA
XM_006711810.2:c.14260-244_14260-243insTAAAAAAAA	XP_006711873.1:n.14260-244_14260-243insTAAAAAAAA
XM_006711802.3:c.14353-244_14353-243insTAAAAAAAA	XP_006711865.1:n.14353-244_14353-243insTAAAAAAAA
XM_006711803.3:c.14350-244_14350-243insTAAAAAAAA	XP_006711866.1:n.14350-244_14350-243insTAAAAAAAA
XM_006711804.3:c.14329-244_14329-243insTAAAAAAAA	XP_006711867.1:n.14329-244_14329-243insTAAAAAAAA
XM_006711805.3:c.14323-244_14323-243insTAAAAAAAA	XP_006711868.1:n.14323-244_14323-243insTAAAAAAAA
XM_006711806.3:c.14317-244_14317-243insTAAAAAAAA	XP_006711869.1:n.14317-244_14317-243insTAAAAAAAA
XM_006711807.3:c.14293-244_14293-243insTAAAAAAAA	XP_006711870.1:n.14293-244_14293-243insTAAAAAAAA
XM_006711808.3:c.14116-244_14116-243insTAAAAAAAA	XP_006711871.1:n.14116-244_14116-243insTAAAAAAAA
XM_006711810.3:c.14260-244_14260-243insTAAAAAAAA	XP_006711873.1:n.14260-244_14260-243insTAAAAAAAA
XM_017002028.1:c.14332-244_14332-243insTAAAAAAAA	XP_016857517.1:n.14332-244_14332-243insTAAAAAAAA
NM_001035.3:c.14299-244_14299-243insTAAAAAAAA MANE Select	NP_001026.2:n.14299-244_14299-243insTAAAAAAAA