Canonical Allele Identifier: CA2487493277

Gene: RYR2

Linked Data

• dbSNP Id: rs1660926386

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808679_237808682dup , CM000663.2:g.237808679_237808682dup	GRCh38
NC_000001.10:g.237971979_237971982dup , CM000663.1:g.237971979_237971982dup	GRCh37
NC_000001.9:g.236038602_236038605dup	NCBI36
NG_008799.2:g.771278_771281dup
NG_008799.3:g.771496_771499dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5391-222_*5391-219dup	ENSP00000499659.2:n.*5391-222_*5391-219dup
ENST00000659194.3:c.14281-222_14281-219dup	ENSP00000499653.3:n.14281-222_14281-219dup
ENST00000660292.2:c.14320-222_14320-219dup	ENSP00000499787.2:n.14320-222_14320-219dup
ENST00000659194.2:c.6470-222_6470-219dup
ENST00000366574.7:c.14299-222_14299-219dup MANE Select	ENSP00000355533.2:n.14299-222_14299-219dup
ENST00000360064.7:c.14248-222_14248-219dup	ENSP00000353174.7:n.14248-222_14248-219dup
ENST00000366574.6:c.14299-222_14299-219dup	ENSP00000355533.2:n.14299-222_14299-219dup
ENST00000608590.5:n.810-222_810-219dup
NM_001035.2:c.14299-222_14299-219dup	NP_001026.2:n.14299-222_14299-219dup
XM_006711802.2:c.14353-222_14353-219dup	XP_006711865.1:n.14353-222_14353-219dup
XM_006711803.2:c.14350-222_14350-219dup	XP_006711866.1:n.14350-222_14350-219dup
XM_006711804.2:c.14329-222_14329-219dup	XP_006711867.1:n.14329-222_14329-219dup
XM_006711805.2:c.14323-222_14323-219dup	XP_006711868.1:n.14323-222_14323-219dup
XM_006711806.2:c.14317-222_14317-219dup	XP_006711869.1:n.14317-222_14317-219dup
XM_006711807.2:c.14293-222_14293-219dup	XP_006711870.1:n.14293-222_14293-219dup
XM_006711808.2:c.14116-222_14116-219dup	XP_006711871.1:n.14116-222_14116-219dup
XM_006711810.2:c.14260-222_14260-219dup	XP_006711873.1:n.14260-222_14260-219dup
XM_006711802.3:c.14353-222_14353-219dup	XP_006711865.1:n.14353-222_14353-219dup
XM_006711803.3:c.14350-222_14350-219dup	XP_006711866.1:n.14350-222_14350-219dup
XM_006711804.3:c.14329-222_14329-219dup	XP_006711867.1:n.14329-222_14329-219dup
XM_006711805.3:c.14323-222_14323-219dup	XP_006711868.1:n.14323-222_14323-219dup
XM_006711806.3:c.14317-222_14317-219dup	XP_006711869.1:n.14317-222_14317-219dup
XM_006711807.3:c.14293-222_14293-219dup	XP_006711870.1:n.14293-222_14293-219dup
XM_006711808.3:c.14116-222_14116-219dup	XP_006711871.1:n.14116-222_14116-219dup
XM_006711810.3:c.14260-222_14260-219dup	XP_006711873.1:n.14260-222_14260-219dup
XM_017002028.1:c.14332-222_14332-219dup	XP_016857517.1:n.14332-222_14332-219dup
NM_001035.3:c.14299-222_14299-219dup MANE Select	NP_001026.2:n.14299-222_14299-219dup