Canonical Allele Identifier: CA2651218864

Gene: RYR2

Linked Data

• gnomAD v4: 1-237771989-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237771991del , CM000663.2:g.237771991del	GRCh38
NC_000001.10:g.237935291del , CM000663.1:g.237935291del	GRCh37
NC_000001.9:g.236001914del	NCBI36
NG_008799.2:g.734590del
NG_008799.3:g.734808del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2650-21del	ENSP00000499659.2:n.*2650-21del
ENST00000659194.3:c.11546-21del	ENSP00000499653.3:n.11546-21del
ENST00000660292.2:c.11579-21del	ENSP00000499787.2:n.11579-21del
ENST00000659194.2:c.3735-21del
ENST00000366574.7:c.11558-21del MANE Select	ENSP00000355533.2:n.11558-21del
ENST00000659194.1:c.3735-21del
ENST00000660292.1:c.1611-21del
ENST00000360064.7:c.11510-21del	ENSP00000353174.7:n.11510-21del
ENST00000366574.6:c.11558-21del	ENSP00000355533.2:n.11558-21del
ENST00000609119.1:n.2753-21del
NM_001035.2:c.11558-21del	NP_001026.2:n.11558-21del
XM_006711802.2:c.11612-21del	XP_006711865.1:n.11612-21del
XM_006711803.2:c.11609-21del	XP_006711866.1:n.11609-21del
XM_006711804.2:c.11588-21del	XP_006711867.1:n.11588-21del
XM_006711805.2:c.11582-21del	XP_006711868.1:n.11582-21del
XM_006711806.2:c.11576-21del	XP_006711869.1:n.11576-21del
XM_006711807.2:c.11552-21del	XP_006711870.1:n.11552-21del
XM_006711808.2:c.11375-21del	XP_006711871.1:n.11375-21del
XM_006711810.2:c.11519-21del	XP_006711873.1:n.11519-21del
XM_006711802.3:c.11612-21del	XP_006711865.1:n.11612-21del
XM_006711803.3:c.11609-21del	XP_006711866.1:n.11609-21del
XM_006711804.3:c.11588-21del	XP_006711867.1:n.11588-21del
XM_006711805.3:c.11582-21del	XP_006711868.1:n.11582-21del
XM_006711806.3:c.11576-21del	XP_006711869.1:n.11576-21del
XM_006711807.3:c.11552-21del	XP_006711870.1:n.11552-21del
XM_006711808.3:c.11375-21del	XP_006711871.1:n.11375-21del
XM_006711810.3:c.11519-21del	XP_006711873.1:n.11519-21del
XM_017002028.1:c.11591-21del	XP_016857517.1:n.11591-21del
NM_001035.3:c.11558-21del MANE Select	NP_001026.2:n.11558-21del