Canonical Allele Identifier: CA1013769845

Gene: RYR2

Linked Data

• gnomAD v3: 1-237808672-AAT-A
• gnomAD v4: 1-237808672-AAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808674_237808675del , CM000663.2:g.237808674_237808675del	GRCh38
NC_000001.10:g.237971974_237971975del , CM000663.1:g.237971974_237971975del	GRCh37
NC_000001.9:g.236038597_236038598del	NCBI36
NG_008799.2:g.771273_771274del
NG_008799.3:g.771491_771492del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5391-227_*5391-226del	ENSP00000499659.2:n.*5391-227_*5391-226del
ENST00000659194.3:c.14281-227_14281-226del	ENSP00000499653.3:n.14281-227_14281-226del
ENST00000660292.2:c.14320-227_14320-226del	ENSP00000499787.2:n.14320-227_14320-226del
ENST00000659194.2:c.6470-227_6470-226del
ENST00000366574.7:c.14299-227_14299-226del MANE Select	ENSP00000355533.2:n.14299-227_14299-226del
ENST00000360064.7:c.14248-227_14248-226del	ENSP00000353174.7:n.14248-227_14248-226del
ENST00000366574.6:c.14299-227_14299-226del	ENSP00000355533.2:n.14299-227_14299-226del
ENST00000608590.5:n.810-227_810-226del
NM_001035.2:c.14299-227_14299-226del	NP_001026.2:n.14299-227_14299-226del
XM_006711802.2:c.14353-227_14353-226del	XP_006711865.1:n.14353-227_14353-226del
XM_006711803.2:c.14350-227_14350-226del	XP_006711866.1:n.14350-227_14350-226del
XM_006711804.2:c.14329-227_14329-226del	XP_006711867.1:n.14329-227_14329-226del
XM_006711805.2:c.14323-227_14323-226del	XP_006711868.1:n.14323-227_14323-226del
XM_006711806.2:c.14317-227_14317-226del	XP_006711869.1:n.14317-227_14317-226del
XM_006711807.2:c.14293-227_14293-226del	XP_006711870.1:n.14293-227_14293-226del
XM_006711808.2:c.14116-227_14116-226del	XP_006711871.1:n.14116-227_14116-226del
XM_006711810.2:c.14260-227_14260-226del	XP_006711873.1:n.14260-227_14260-226del
XM_006711802.3:c.14353-227_14353-226del	XP_006711865.1:n.14353-227_14353-226del
XM_006711803.3:c.14350-227_14350-226del	XP_006711866.1:n.14350-227_14350-226del
XM_006711804.3:c.14329-227_14329-226del	XP_006711867.1:n.14329-227_14329-226del
XM_006711805.3:c.14323-227_14323-226del	XP_006711868.1:n.14323-227_14323-226del
XM_006711806.3:c.14317-227_14317-226del	XP_006711869.1:n.14317-227_14317-226del
XM_006711807.3:c.14293-227_14293-226del	XP_006711870.1:n.14293-227_14293-226del
XM_006711808.3:c.14116-227_14116-226del	XP_006711871.1:n.14116-227_14116-226del
XM_006711810.3:c.14260-227_14260-226del	XP_006711873.1:n.14260-227_14260-226del
XM_017002028.1:c.14332-227_14332-226del	XP_016857517.1:n.14332-227_14332-226del
NM_001035.3:c.14299-227_14299-226del MANE Select	NP_001026.2:n.14299-227_14299-226del