Canonical Allele Identifier: CA645514122

Gene: RYR2

Linked Data

• COSMIC: COSM403613

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237627966_237627967delinsTA , CM000663.2:g.237627966_237627967delinsTA	GRCh38
NC_000001.10:g.237791266_237791267delinsTA , CM000663.1:g.237791266_237791267delinsTA	GRCh37
NC_000001.9:g.235857889_235857890delinsTA	NCBI36
NG_008799.2:g.590565_590566delinsTA
NG_008799.3:g.590783_590784delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.6326_6327delinsTA	ENSP00000499659.2:p.Asn2109Ile
ENST00000659194.3:c.6326_6327delinsTA	ENSP00000499653.3:p.Asn2109Ile
ENST00000660292.2:c.6326_6327delinsTA	ENSP00000499787.2:p.Asn2109Ile
ENST00000366574.7:c.6326_6327delinsTA MANE Select	ENSP00000355533.2:p.Asn2109Ile
ENST00000360064.7:c.6278_6279delinsTA	ENSP00000353174.7:p.Asn2093Ile
ENST00000366574.6:c.6326_6327delinsTA	ENSP00000355533.2:p.Asn2109Ile
NM_001035.2:c.6326_6327delinsTA	NP_001026.2:p.Asn2109Ile
XM_006711802.2:c.6356_6357delinsTA	XP_006711865.1:p.Asn2119Ile
XM_006711803.2:c.6353_6354delinsTA	XP_006711866.1:p.Asn2118Ile
XM_006711804.2:c.6356_6357delinsTA	XP_006711867.1:p.Asn2119Ile
XM_006711805.2:c.6326_6327delinsTA	XP_006711868.1:p.Asn2109Ile
XM_006711806.2:c.6356_6357delinsTA	XP_006711869.1:p.Asn2119Ile
XM_006711807.2:c.6356_6357delinsTA	XP_006711870.1:p.Asn2119Ile
XM_006711808.2:c.6356_6357delinsTA	XP_006711871.1:p.Asn2119Ile
XM_006711809.2:c.6356_6357delinsTA	XP_006711872.1:p.Asn2119Ile
XM_006711810.2:c.6323_6324delinsTA	XP_006711873.1:p.Asn2108Ile
XR_949152.1:n.6637_6638delinsTA
XM_006711802.3:c.6356_6357delinsTA	XP_006711865.1:p.Asn2119Ile
XM_006711803.3:c.6353_6354delinsTA	XP_006711866.1:p.Asn2118Ile
XM_006711804.3:c.6356_6357delinsTA	XP_006711867.1:p.Asn2119Ile
XM_006711805.3:c.6326_6327delinsTA	XP_006711868.1:p.Asn2109Ile
XM_006711806.3:c.6356_6357delinsTA	XP_006711869.1:p.Asn2119Ile
XM_006711807.3:c.6356_6357delinsTA	XP_006711870.1:p.Asn2119Ile
XM_006711808.3:c.6356_6357delinsTA	XP_006711871.1:p.Asn2119Ile
XM_006711810.3:c.6323_6324delinsTA	XP_006711873.1:p.Asn2108Ile
XM_017002028.1:c.6335_6336delinsTA	XP_016857517.1:p.Asn2112Ile
XR_002957299.1:n.6670_6671delinsTA
XR_949152.2:n.6670_6671delinsTA
NM_001035.3:c.6326_6327delinsTA MANE Select	NP_001026.2:p.Asn2109Ile