Canonical Allele Identifier: CA2651216684

Gene: RYR2

Linked Data

• gnomAD v4: 1-237808853-GTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808855_237808856del , CM000663.2:g.237808855_237808856del	GRCh38
NC_000001.10:g.237972155_237972156del , CM000663.1:g.237972155_237972156del	GRCh37
NC_000001.9:g.236038778_236038779del	NCBI36
NG_008799.2:g.771454_771455del
NG_008799.3:g.771672_771673del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5391-46_*5391-45del	ENSP00000499659.2:n.*5391-46_*5391-45del
ENST00000659194.3:c.14281-46_14281-45del	ENSP00000499653.3:n.14281-46_14281-45del
ENST00000660292.2:c.14320-46_14320-45del	ENSP00000499787.2:n.14320-46_14320-45del
ENST00000659194.2:c.6470-46_6470-45del
ENST00000366574.7:c.14299-46_14299-45del MANE Select	ENSP00000355533.2:n.14299-46_14299-45del
ENST00000360064.7:c.14248-46_14248-45del	ENSP00000353174.7:n.14248-46_14248-45del
ENST00000366574.6:c.14299-46_14299-45del	ENSP00000355533.2:n.14299-46_14299-45del
ENST00000608590.5:n.810-46_810-45del
NM_001035.2:c.14299-46_14299-45del	NP_001026.2:n.14299-46_14299-45del
XM_006711802.2:c.14353-46_14353-45del	XP_006711865.1:n.14353-46_14353-45del
XM_006711803.2:c.14350-46_14350-45del	XP_006711866.1:n.14350-46_14350-45del
XM_006711804.2:c.14329-46_14329-45del	XP_006711867.1:n.14329-46_14329-45del
XM_006711805.2:c.14323-46_14323-45del	XP_006711868.1:n.14323-46_14323-45del
XM_006711806.2:c.14317-46_14317-45del	XP_006711869.1:n.14317-46_14317-45del
XM_006711807.2:c.14293-46_14293-45del	XP_006711870.1:n.14293-46_14293-45del
XM_006711808.2:c.14116-46_14116-45del	XP_006711871.1:n.14116-46_14116-45del
XM_006711810.2:c.14260-46_14260-45del	XP_006711873.1:n.14260-46_14260-45del
XM_006711802.3:c.14353-46_14353-45del	XP_006711865.1:n.14353-46_14353-45del
XM_006711803.3:c.14350-46_14350-45del	XP_006711866.1:n.14350-46_14350-45del
XM_006711804.3:c.14329-46_14329-45del	XP_006711867.1:n.14329-46_14329-45del
XM_006711805.3:c.14323-46_14323-45del	XP_006711868.1:n.14323-46_14323-45del
XM_006711806.3:c.14317-46_14317-45del	XP_006711869.1:n.14317-46_14317-45del
XM_006711807.3:c.14293-46_14293-45del	XP_006711870.1:n.14293-46_14293-45del
XM_006711808.3:c.14116-46_14116-45del	XP_006711871.1:n.14116-46_14116-45del
XM_006711810.3:c.14260-46_14260-45del	XP_006711873.1:n.14260-46_14260-45del
XM_017002028.1:c.14332-46_14332-45del	XP_016857517.1:n.14332-46_14332-45del
NM_001035.3:c.14299-46_14299-45del MANE Select	NP_001026.2:n.14299-46_14299-45del