Canonical Allele Identifier: CA1013769770

Gene: RYR2

Linked Data

• gnomAD v3: 1-237808654-C-CAAA
• gnomAD v4: 1-237808654-C-CAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808666_237808668dup , CM000663.2:g.237808666_237808668dup	GRCh38
NC_000001.10:g.237971966_237971968dup , CM000663.1:g.237971966_237971968dup	GRCh37
NC_000001.9:g.236038589_236038591dup	NCBI36
NG_008799.2:g.771265_771267dup
NG_008799.3:g.771483_771485dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5391-235_*5391-233dup	ENSP00000499659.2:n.*5391-235_*5391-233dup
ENST00000659194.3:c.14281-235_14281-233dup	ENSP00000499653.3:n.14281-235_14281-233dup
ENST00000660292.2:c.14320-235_14320-233dup	ENSP00000499787.2:n.14320-235_14320-233dup
ENST00000659194.2:c.6470-235_6470-233dup
ENST00000366574.7:c.14299-235_14299-233dup MANE Select	ENSP00000355533.2:n.14299-235_14299-233dup
ENST00000360064.7:c.14248-235_14248-233dup	ENSP00000353174.7:n.14248-235_14248-233dup
ENST00000366574.6:c.14299-235_14299-233dup	ENSP00000355533.2:n.14299-235_14299-233dup
ENST00000608590.5:n.810-235_810-233dup
NM_001035.2:c.14299-235_14299-233dup	NP_001026.2:n.14299-235_14299-233dup
XM_006711802.2:c.14353-235_14353-233dup	XP_006711865.1:n.14353-235_14353-233dup
XM_006711803.2:c.14350-235_14350-233dup	XP_006711866.1:n.14350-235_14350-233dup
XM_006711804.2:c.14329-235_14329-233dup	XP_006711867.1:n.14329-235_14329-233dup
XM_006711805.2:c.14323-235_14323-233dup	XP_006711868.1:n.14323-235_14323-233dup
XM_006711806.2:c.14317-235_14317-233dup	XP_006711869.1:n.14317-235_14317-233dup
XM_006711807.2:c.14293-235_14293-233dup	XP_006711870.1:n.14293-235_14293-233dup
XM_006711808.2:c.14116-235_14116-233dup	XP_006711871.1:n.14116-235_14116-233dup
XM_006711810.2:c.14260-235_14260-233dup	XP_006711873.1:n.14260-235_14260-233dup
XM_006711802.3:c.14353-235_14353-233dup	XP_006711865.1:n.14353-235_14353-233dup
XM_006711803.3:c.14350-235_14350-233dup	XP_006711866.1:n.14350-235_14350-233dup
XM_006711804.3:c.14329-235_14329-233dup	XP_006711867.1:n.14329-235_14329-233dup
XM_006711805.3:c.14323-235_14323-233dup	XP_006711868.1:n.14323-235_14323-233dup
XM_006711806.3:c.14317-235_14317-233dup	XP_006711869.1:n.14317-235_14317-233dup
XM_006711807.3:c.14293-235_14293-233dup	XP_006711870.1:n.14293-235_14293-233dup
XM_006711808.3:c.14116-235_14116-233dup	XP_006711871.1:n.14116-235_14116-233dup
XM_006711810.3:c.14260-235_14260-233dup	XP_006711873.1:n.14260-235_14260-233dup
XM_017002028.1:c.14332-235_14332-233dup	XP_016857517.1:n.14332-235_14332-233dup
NM_001035.3:c.14299-235_14299-233dup MANE Select	NP_001026.2:n.14299-235_14299-233dup