Canonical Allele Identifier: CA1013732532

Gene: RYR2

Linked Data

• ClinVar Variation Id: 3075624
• ClinVar RCV Id: RCV004017142
• dbSNP Id: rs1705078117
• gnomAD v3: 1-237417066-GTGGCGCTGTGT-G
• gnomAD v4: 1-237417066-GTGGCGCTGTGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237417067_237417077del , CM000663.2:g.237417067_237417077del	GRCh38
NC_000001.10:g.237580367_237580377del , CM000663.1:g.237580367_237580377del	GRCh37
NC_000001.9:g.235646990_235647000del	NCBI36
NG_008799.2:g.379666_379676del
NG_008799.3:g.379884_379894del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.792_802del	ENSP00000499659.2:p.Gly265CysfsTer?
ENST00000659194.3:c.792_802del	ENSP00000499653.3:p.Gly265CysfsTer?
ENST00000660292.2:c.792_802del	ENSP00000499787.2:p.Gly265CysfsTer?
ENST00000366574.7:c.792_802del MANE Select	ENSP00000355533.2:p.Gly265CysfsTer?
ENST00000360064.7:c.744_754del	ENSP00000353174.7:p.Gly249CysfsTer?
ENST00000366574.6:c.792_802del	ENSP00000355533.2:p.Gly265CysfsTer?
NM_001035.2:c.792_802del	NP_001026.2:p.Gly265CysfsTer?
XM_006711802.2:c.792_802del	XP_006711865.1:p.Gly265CysfsTer?
XM_006711803.2:c.792_802del	XP_006711866.1:p.Gly265CysfsTer?
XM_006711804.2:c.792_802del	XP_006711867.1:p.Gly265CysfsTer?
XM_006711805.2:c.792_802del	XP_006711868.1:p.Gly265CysfsTer?
XM_006711806.2:c.792_802del	XP_006711869.1:p.Gly265CysfsTer?
XM_006711807.2:c.792_802del	XP_006711870.1:p.Gly265CysfsTer?
XM_006711808.2:c.792_802del	XP_006711871.1:p.Gly265CysfsTer?
XM_006711809.2:c.792_802del	XP_006711872.1:p.Gly265CysfsTer?
XM_006711810.2:c.792_802del	XP_006711873.1:p.Gly265CysfsTer?
XR_949152.1:n.1073_1083del
XM_006711802.3:c.792_802del	XP_006711865.1:p.Gly265CysfsTer?
XM_006711803.3:c.792_802del	XP_006711866.1:p.Gly265CysfsTer?
XM_006711804.3:c.792_802del	XP_006711867.1:p.Gly265CysfsTer?
XM_006711805.3:c.792_802del	XP_006711868.1:p.Gly265CysfsTer?
XM_006711806.3:c.792_802del	XP_006711869.1:p.Gly265CysfsTer?
XM_006711807.3:c.792_802del	XP_006711870.1:p.Gly265CysfsTer?
XM_006711808.3:c.792_802del	XP_006711871.1:p.Gly265CysfsTer?
XM_006711810.3:c.792_802del	XP_006711873.1:p.Gly265CysfsTer?
XM_017002028.1:c.771_781del	XP_016857517.1:p.Gly258CysfsTer?
XR_002957299.1:n.1106_1116del
XR_949152.2:n.1106_1116del
NM_001035.3:c.792_802del MANE Select	NP_001026.2:p.Gly265CysfsTer?