Canonical Allele Identifier: CA2487493250

Gene: RYR2

Linked Data

• dbSNP Id: rs35162950

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808659_237808668del , CM000663.2:g.237808659_237808668del	GRCh38
NC_000001.10:g.237971959_237971968del , CM000663.1:g.237971959_237971968del	GRCh37
NC_000001.9:g.236038582_236038591del	NCBI36
NG_008799.2:g.771258_771267del
NG_008799.3:g.771476_771485del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5391-242_*5391-233del	ENSP00000499659.2:n.*5391-242_*5391-233del
ENST00000659194.3:c.14281-242_14281-233del	ENSP00000499653.3:n.14281-242_14281-233del
ENST00000660292.2:c.14320-242_14320-233del	ENSP00000499787.2:n.14320-242_14320-233del
ENST00000659194.2:c.6470-242_6470-233del
ENST00000366574.7:c.14299-242_14299-233del MANE Select	ENSP00000355533.2:n.14299-242_14299-233del
ENST00000360064.7:c.14248-242_14248-233del	ENSP00000353174.7:n.14248-242_14248-233del
ENST00000366574.6:c.14299-242_14299-233del	ENSP00000355533.2:n.14299-242_14299-233del
ENST00000608590.5:n.810-242_810-233del
NM_001035.2:c.14299-242_14299-233del	NP_001026.2:n.14299-242_14299-233del
XM_006711802.2:c.14353-242_14353-233del	XP_006711865.1:n.14353-242_14353-233del
XM_006711803.2:c.14350-242_14350-233del	XP_006711866.1:n.14350-242_14350-233del
XM_006711804.2:c.14329-242_14329-233del	XP_006711867.1:n.14329-242_14329-233del
XM_006711805.2:c.14323-242_14323-233del	XP_006711868.1:n.14323-242_14323-233del
XM_006711806.2:c.14317-242_14317-233del	XP_006711869.1:n.14317-242_14317-233del
XM_006711807.2:c.14293-242_14293-233del	XP_006711870.1:n.14293-242_14293-233del
XM_006711808.2:c.14116-242_14116-233del	XP_006711871.1:n.14116-242_14116-233del
XM_006711810.2:c.14260-242_14260-233del	XP_006711873.1:n.14260-242_14260-233del
XM_006711802.3:c.14353-242_14353-233del	XP_006711865.1:n.14353-242_14353-233del
XM_006711803.3:c.14350-242_14350-233del	XP_006711866.1:n.14350-242_14350-233del
XM_006711804.3:c.14329-242_14329-233del	XP_006711867.1:n.14329-242_14329-233del
XM_006711805.3:c.14323-242_14323-233del	XP_006711868.1:n.14323-242_14323-233del
XM_006711806.3:c.14317-242_14317-233del	XP_006711869.1:n.14317-242_14317-233del
XM_006711807.3:c.14293-242_14293-233del	XP_006711870.1:n.14293-242_14293-233del
XM_006711808.3:c.14116-242_14116-233del	XP_006711871.1:n.14116-242_14116-233del
XM_006711810.3:c.14260-242_14260-233del	XP_006711873.1:n.14260-242_14260-233del
XM_017002028.1:c.14332-242_14332-233del	XP_016857517.1:n.14332-242_14332-233del
NM_001035.3:c.14299-242_14299-233del MANE Select	NP_001026.2:n.14299-242_14299-233del