Canonical Allele Identifier: CA1013769723

Gene: RYR2

Linked Data

• dbSNP Id: rs1660911655
• gnomAD v3: 1-237808650-GTC-G
• gnomAD v4: 1-237808650-GTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808653_237808654del , CM000663.2:g.237808653_237808654del	GRCh38
NC_000001.10:g.237971953_237971954del , CM000663.1:g.237971953_237971954del	GRCh37
NC_000001.9:g.236038576_236038577del	NCBI36
NG_008799.2:g.771252_771253del
NG_008799.3:g.771470_771471del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5391-248_*5391-247del	ENSP00000499659.2:n.*5391-248_*5391-247del
ENST00000659194.3:c.14281-248_14281-247del	ENSP00000499653.3:n.14281-248_14281-247del
ENST00000660292.2:c.14320-248_14320-247del	ENSP00000499787.2:n.14320-248_14320-247del
ENST00000659194.2:c.6470-248_6470-247del
ENST00000366574.7:c.14299-248_14299-247del MANE Select	ENSP00000355533.2:n.14299-248_14299-247del
ENST00000360064.7:c.14248-248_14248-247del	ENSP00000353174.7:n.14248-248_14248-247del
ENST00000366574.6:c.14299-248_14299-247del	ENSP00000355533.2:n.14299-248_14299-247del
ENST00000608590.5:n.810-248_810-247del
NM_001035.2:c.14299-248_14299-247del	NP_001026.2:n.14299-248_14299-247del
XM_006711802.2:c.14353-248_14353-247del	XP_006711865.1:n.14353-248_14353-247del
XM_006711803.2:c.14350-248_14350-247del	XP_006711866.1:n.14350-248_14350-247del
XM_006711804.2:c.14329-248_14329-247del	XP_006711867.1:n.14329-248_14329-247del
XM_006711805.2:c.14323-248_14323-247del	XP_006711868.1:n.14323-248_14323-247del
XM_006711806.2:c.14317-248_14317-247del	XP_006711869.1:n.14317-248_14317-247del
XM_006711807.2:c.14293-248_14293-247del	XP_006711870.1:n.14293-248_14293-247del
XM_006711808.2:c.14116-248_14116-247del	XP_006711871.1:n.14116-248_14116-247del
XM_006711810.2:c.14260-248_14260-247del	XP_006711873.1:n.14260-248_14260-247del
XM_006711802.3:c.14353-248_14353-247del	XP_006711865.1:n.14353-248_14353-247del
XM_006711803.3:c.14350-248_14350-247del	XP_006711866.1:n.14350-248_14350-247del
XM_006711804.3:c.14329-248_14329-247del	XP_006711867.1:n.14329-248_14329-247del
XM_006711805.3:c.14323-248_14323-247del	XP_006711868.1:n.14323-248_14323-247del
XM_006711806.3:c.14317-248_14317-247del	XP_006711869.1:n.14317-248_14317-247del
XM_006711807.3:c.14293-248_14293-247del	XP_006711870.1:n.14293-248_14293-247del
XM_006711808.3:c.14116-248_14116-247del	XP_006711871.1:n.14116-248_14116-247del
XM_006711810.3:c.14260-248_14260-247del	XP_006711873.1:n.14260-248_14260-247del
XM_017002028.1:c.14332-248_14332-247del	XP_016857517.1:n.14332-248_14332-247del
NM_001035.3:c.14299-248_14299-247del MANE Select	NP_001026.2:n.14299-248_14299-247del