Canonical Allele Identifier: CA2651216867

Gene: RYR2

Linked Data

• gnomAD v4: 1-237809172-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809173del , CM000663.2:g.237809173del	GRCh38
NC_000001.10:g.237972473del , CM000663.1:g.237972473del	GRCh37
NC_000001.9:g.236039096del	NCBI36
NG_008799.2:g.771772del
NG_008799.3:g.771990del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5525+138del	ENSP00000499659.2:n.*5525+138del
ENST00000659194.3:c.14415+138del	ENSP00000499653.3:n.14415+138del
ENST00000660292.2:c.14454+138del	ENSP00000499787.2:n.14454+138del
ENST00000659194.2:c.6604+138del
ENST00000366574.7:c.14433+138del MANE Select	ENSP00000355533.2:n.14433+138del
ENST00000360064.7:c.14382+138del	ENSP00000353174.7:n.14382+138del
ENST00000366574.6:c.14433+138del	ENSP00000355533.2:n.14433+138del
ENST00000608590.5:n.944+138del
NM_001035.2:c.14433+138del	NP_001026.2:n.14433+138del
XM_006711802.2:c.14487+138del	XP_006711865.1:n.14487+138del
XM_006711803.2:c.14484+138del	XP_006711866.1:n.14484+138del
XM_006711804.2:c.14463+138del	XP_006711867.1:n.14463+138del
XM_006711805.2:c.14457+138del	XP_006711868.1:n.14457+138del
XM_006711806.2:c.14451+138del	XP_006711869.1:n.14451+138del
XM_006711807.2:c.14427+138del	XP_006711870.1:n.14427+138del
XM_006711808.2:c.14250+138del	XP_006711871.1:n.14250+138del
XM_006711810.2:c.14394+138del	XP_006711873.1:n.14394+138del
XM_006711802.3:c.14487+138del	XP_006711865.1:n.14487+138del
XM_006711803.3:c.14484+138del	XP_006711866.1:n.14484+138del
XM_006711804.3:c.14463+138del	XP_006711867.1:n.14463+138del
XM_006711805.3:c.14457+138del	XP_006711868.1:n.14457+138del
XM_006711806.3:c.14451+138del	XP_006711869.1:n.14451+138del
XM_006711807.3:c.14427+138del	XP_006711870.1:n.14427+138del
XM_006711808.3:c.14250+138del	XP_006711871.1:n.14250+138del
XM_006711810.3:c.14394+138del	XP_006711873.1:n.14394+138del
XM_017002028.1:c.14466+138del	XP_016857517.1:n.14466+138del
NM_001035.3:c.14433+138del MANE Select	NP_001026.2:n.14433+138del