Canonical Allele Identifier: CA2651204075

Gene: RYR2

Linked Data

• gnomAD v4: 1-237628021-GTCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237628022_237628024del , CM000663.2:g.237628022_237628024del	GRCh38
NC_000001.10:g.237791322_237791324del , CM000663.1:g.237791322_237791324del	GRCh37
NC_000001.9:g.235857945_235857947del	NCBI36
NG_008799.2:g.590621_590623del
NG_008799.3:g.590839_590841del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.6382_6384del	ENSP00000499659.2:p.Ser2128del
ENST00000659194.3:c.6382_6384del	ENSP00000499653.3:p.Ser2128del
ENST00000660292.2:c.6382_6384del	ENSP00000499787.2:p.Ser2128del
ENST00000366574.7:c.6382_6384del MANE Select	ENSP00000355533.2:p.Ser2128del
ENST00000360064.7:c.6334_6336del	ENSP00000353174.7:p.Ser2112del
ENST00000366574.6:c.6382_6384del	ENSP00000355533.2:p.Ser2128del
NM_001035.2:c.6382_6384del	NP_001026.2:p.Ser2128del
XM_006711802.2:c.6412_6414del	XP_006711865.1:p.Ser2138del
XM_006711803.2:c.6409_6411del	XP_006711866.1:p.Ser2137del
XM_006711804.2:c.6412_6414del	XP_006711867.1:p.Ser2138del
XM_006711805.2:c.6382_6384del	XP_006711868.1:p.Ser2128del
XM_006711806.2:c.6412_6414del	XP_006711869.1:p.Ser2138del
XM_006711807.2:c.6412_6414del	XP_006711870.1:p.Ser2138del
XM_006711808.2:c.6412_6414del	XP_006711871.1:p.Ser2138del
XM_006711809.2:c.6412_6414del	XP_006711872.1:p.Ser2138del
XM_006711810.2:c.6379_6381del	XP_006711873.1:p.Ser2127del
XR_949152.1:n.6693_6695del
XM_006711802.3:c.6412_6414del	XP_006711865.1:p.Ser2138del
XM_006711803.3:c.6409_6411del	XP_006711866.1:p.Ser2137del
XM_006711804.3:c.6412_6414del	XP_006711867.1:p.Ser2138del
XM_006711805.3:c.6382_6384del	XP_006711868.1:p.Ser2128del
XM_006711806.3:c.6412_6414del	XP_006711869.1:p.Ser2138del
XM_006711807.3:c.6412_6414del	XP_006711870.1:p.Ser2138del
XM_006711808.3:c.6412_6414del	XP_006711871.1:p.Ser2138del
XM_006711810.3:c.6379_6381del	XP_006711873.1:p.Ser2127del
XM_017002028.1:c.6391_6393del	XP_016857517.1:p.Ser2131del
XR_002957299.1:n.6726_6728del
XR_949152.2:n.6726_6728del
NM_001035.3:c.6382_6384del MANE Select	NP_001026.2:p.Ser2128del