Canonical Allele Identifier: CA1013769829

Gene: RYR2

Linked Data

• gnomAD v3: 1-237808669-C-CAAAATAAAATAAAAT
• gnomAD v4: 1-237808669-C-CAAAATAAAATAAAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808683_237808697dup , CM000663.2:g.237808683_237808697dup	GRCh38
NC_000001.10:g.237971983_237971997dup , CM000663.1:g.237971983_237971997dup	GRCh37
NC_000001.9:g.236038606_236038620dup	NCBI36
NG_008799.2:g.771282_771296dup
NG_008799.3:g.771500_771514dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5391-218_*5391-204dup	ENSP00000499659.2:n.*5391-218_*5391-204dup
ENST00000659194.3:c.14281-218_14281-204dup	ENSP00000499653.3:n.14281-218_14281-204dup
ENST00000660292.2:c.14320-218_14320-204dup	ENSP00000499787.2:n.14320-218_14320-204dup
ENST00000659194.2:c.6470-218_6470-204dup
ENST00000366574.7:c.14299-218_14299-204dup MANE Select	ENSP00000355533.2:n.14299-218_14299-204dup
ENST00000360064.7:c.14248-218_14248-204dup	ENSP00000353174.7:n.14248-218_14248-204dup
ENST00000366574.6:c.14299-218_14299-204dup	ENSP00000355533.2:n.14299-218_14299-204dup
ENST00000608590.5:n.810-218_810-204dup
NM_001035.2:c.14299-218_14299-204dup	NP_001026.2:n.14299-218_14299-204dup
XM_006711802.2:c.14353-218_14353-204dup	XP_006711865.1:n.14353-218_14353-204dup
XM_006711803.2:c.14350-218_14350-204dup	XP_006711866.1:n.14350-218_14350-204dup
XM_006711804.2:c.14329-218_14329-204dup	XP_006711867.1:n.14329-218_14329-204dup
XM_006711805.2:c.14323-218_14323-204dup	XP_006711868.1:n.14323-218_14323-204dup
XM_006711806.2:c.14317-218_14317-204dup	XP_006711869.1:n.14317-218_14317-204dup
XM_006711807.2:c.14293-218_14293-204dup	XP_006711870.1:n.14293-218_14293-204dup
XM_006711808.2:c.14116-218_14116-204dup	XP_006711871.1:n.14116-218_14116-204dup
XM_006711810.2:c.14260-218_14260-204dup	XP_006711873.1:n.14260-218_14260-204dup
XM_006711802.3:c.14353-218_14353-204dup	XP_006711865.1:n.14353-218_14353-204dup
XM_006711803.3:c.14350-218_14350-204dup	XP_006711866.1:n.14350-218_14350-204dup
XM_006711804.3:c.14329-218_14329-204dup	XP_006711867.1:n.14329-218_14329-204dup
XM_006711805.3:c.14323-218_14323-204dup	XP_006711868.1:n.14323-218_14323-204dup
XM_006711806.3:c.14317-218_14317-204dup	XP_006711869.1:n.14317-218_14317-204dup
XM_006711807.3:c.14293-218_14293-204dup	XP_006711870.1:n.14293-218_14293-204dup
XM_006711808.3:c.14116-218_14116-204dup	XP_006711871.1:n.14116-218_14116-204dup
XM_006711810.3:c.14260-218_14260-204dup	XP_006711873.1:n.14260-218_14260-204dup
XM_017002028.1:c.14332-218_14332-204dup	XP_016857517.1:n.14332-218_14332-204dup
NM_001035.3:c.14299-218_14299-204dup MANE Select	NP_001026.2:n.14299-218_14299-204dup