Canonical Allele Identifier: CA39843810

Gene: RYR2

Linked Data

• dbSNP Id: rs1056459176
• MyVariant Identifiers: chr1:g.237971967_237971969del (hg19) ; chr1:g.237808667_237808669del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808669_237808671del , CM000663.2:g.237808669_237808671del	GRCh38
NC_000001.10:g.237971969_237971971del , CM000663.1:g.237971969_237971971del	GRCh37
NC_000001.9:g.236038592_236038594del	NCBI36
NG_008799.2:g.771268_771270del
NG_008799.3:g.771486_771488del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5391-232_*5391-230del	ENSP00000499659.2:n.*5391-232_*5391-230del
ENST00000659194.3:c.14281-232_14281-230del	ENSP00000499653.3:n.14281-232_14281-230del
ENST00000660292.2:c.14320-232_14320-230del	ENSP00000499787.2:n.14320-232_14320-230del
ENST00000659194.2:c.6470-232_6470-230del
ENST00000366574.7:c.14299-232_14299-230del MANE Select	ENSP00000355533.2:n.14299-232_14299-230del
ENST00000360064.7:c.14248-232_14248-230del	ENSP00000353174.7:n.14248-232_14248-230del
ENST00000366574.6:c.14299-232_14299-230del	ENSP00000355533.2:n.14299-232_14299-230del
ENST00000608590.5:n.810-232_810-230del
NM_001035.2:c.14299-232_14299-230del	NP_001026.2:n.14299-232_14299-230del
XM_006711802.2:c.14353-232_14353-230del	XP_006711865.1:n.14353-232_14353-230del
XM_006711803.2:c.14350-232_14350-230del	XP_006711866.1:n.14350-232_14350-230del
XM_006711804.2:c.14329-232_14329-230del	XP_006711867.1:n.14329-232_14329-230del
XM_006711805.2:c.14323-232_14323-230del	XP_006711868.1:n.14323-232_14323-230del
XM_006711806.2:c.14317-232_14317-230del	XP_006711869.1:n.14317-232_14317-230del
XM_006711807.2:c.14293-232_14293-230del	XP_006711870.1:n.14293-232_14293-230del
XM_006711808.2:c.14116-232_14116-230del	XP_006711871.1:n.14116-232_14116-230del
XM_006711810.2:c.14260-232_14260-230del	XP_006711873.1:n.14260-232_14260-230del
XM_006711802.3:c.14353-232_14353-230del	XP_006711865.1:n.14353-232_14353-230del
XM_006711803.3:c.14350-232_14350-230del	XP_006711866.1:n.14350-232_14350-230del
XM_006711804.3:c.14329-232_14329-230del	XP_006711867.1:n.14329-232_14329-230del
XM_006711805.3:c.14323-232_14323-230del	XP_006711868.1:n.14323-232_14323-230del
XM_006711806.3:c.14317-232_14317-230del	XP_006711869.1:n.14317-232_14317-230del
XM_006711807.3:c.14293-232_14293-230del	XP_006711870.1:n.14293-232_14293-230del
XM_006711808.3:c.14116-232_14116-230del	XP_006711871.1:n.14116-232_14116-230del
XM_006711810.3:c.14260-232_14260-230del	XP_006711873.1:n.14260-232_14260-230del
XM_017002028.1:c.14332-232_14332-230del	XP_016857517.1:n.14332-232_14332-230del
NM_001035.3:c.14299-232_14299-230del MANE Select	NP_001026.2:n.14299-232_14299-230del