Canonical Allele Identifier: CA529567698

Gene: RYR2

Linked Data

• dbSNP Id: rs1192405648
• gnomAD v2: 1-237971967-AAC-A
• gnomAD v3: 1-237808667-AAC-A
• gnomAD v4: 1-237808667-AAC-A
• MyVariant Identifiers: chr1:g.237971968_237971969del (hg19) ; chr1:g.237808668_237808669del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808669_237808670del , CM000663.2:g.237808669_237808670del	GRCh38
NC_000001.10:g.237971969_237971970del , CM000663.1:g.237971969_237971970del	GRCh37
NC_000001.9:g.236038592_236038593del	NCBI36
NG_008799.2:g.771268_771269del
NG_008799.3:g.771486_771487del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5391-232_*5391-231del	ENSP00000499659.2:n.*5391-232_*5391-231del
ENST00000659194.3:c.14281-232_14281-231del	ENSP00000499653.3:n.14281-232_14281-231del
ENST00000660292.2:c.14320-232_14320-231del	ENSP00000499787.2:n.14320-232_14320-231del
ENST00000659194.2:c.6470-232_6470-231del
ENST00000366574.7:c.14299-232_14299-231del MANE Select	ENSP00000355533.2:n.14299-232_14299-231del
ENST00000360064.7:c.14248-232_14248-231del	ENSP00000353174.7:n.14248-232_14248-231del
ENST00000366574.6:c.14299-232_14299-231del	ENSP00000355533.2:n.14299-232_14299-231del
ENST00000608590.5:n.810-232_810-231del
NM_001035.2:c.14299-232_14299-231del	NP_001026.2:n.14299-232_14299-231del
XM_006711802.2:c.14353-232_14353-231del	XP_006711865.1:n.14353-232_14353-231del
XM_006711803.2:c.14350-232_14350-231del	XP_006711866.1:n.14350-232_14350-231del
XM_006711804.2:c.14329-232_14329-231del	XP_006711867.1:n.14329-232_14329-231del
XM_006711805.2:c.14323-232_14323-231del	XP_006711868.1:n.14323-232_14323-231del
XM_006711806.2:c.14317-232_14317-231del	XP_006711869.1:n.14317-232_14317-231del
XM_006711807.2:c.14293-232_14293-231del	XP_006711870.1:n.14293-232_14293-231del
XM_006711808.2:c.14116-232_14116-231del	XP_006711871.1:n.14116-232_14116-231del
XM_006711810.2:c.14260-232_14260-231del	XP_006711873.1:n.14260-232_14260-231del
XM_006711802.3:c.14353-232_14353-231del	XP_006711865.1:n.14353-232_14353-231del
XM_006711803.3:c.14350-232_14350-231del	XP_006711866.1:n.14350-232_14350-231del
XM_006711804.3:c.14329-232_14329-231del	XP_006711867.1:n.14329-232_14329-231del
XM_006711805.3:c.14323-232_14323-231del	XP_006711868.1:n.14323-232_14323-231del
XM_006711806.3:c.14317-232_14317-231del	XP_006711869.1:n.14317-232_14317-231del
XM_006711807.3:c.14293-232_14293-231del	XP_006711870.1:n.14293-232_14293-231del
XM_006711808.3:c.14116-232_14116-231del	XP_006711871.1:n.14116-232_14116-231del
XM_006711810.3:c.14260-232_14260-231del	XP_006711873.1:n.14260-232_14260-231del
XM_017002028.1:c.14332-232_14332-231del	XP_016857517.1:n.14332-232_14332-231del
NM_001035.3:c.14299-232_14299-231del MANE Select	NP_001026.2:n.14299-232_14299-231del