Canonical Allele Identifier: CA2529089991

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237417177_237417178insAGAATAGTCCACAAAGTAGAGCTACTA , CM000663.2:g.237417177_237417178insAGAATAGTCCACAAAGTAGAGCTACTA	GRCh38
NC_000001.10:g.237580477_237580478insAGAATAGTCCACAAAGTAGAGCTACTA , CM000663.1:g.237580477_237580478insAGAATAGTCCACAAAGTAGAGCTACTA	GRCh37
NC_000001.9:g.235647100_235647101insAGAATAGTCCACAAAGTAGAGCTACTA	NCBI36
NG_008799.2:g.379776_379777insAGAATAGTCCACAAAGTAGAGCTACTA
NG_008799.3:g.379994_379995insAGAATAGTCCACAAAGTAGAGCTACTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA	ENSP00000499659.2:n.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTAC...
ENST00000659194.3:c.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA	ENSP00000499653.3:n.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTAC...
ENST00000660292.2:c.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA	ENSP00000499787.2:n.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTAC...
ENST00000366574.7:c.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA MANE Select	ENSP00000355533.2:n.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTAC...
ENST00000360064.7:c.800+54_800+55insAGAATAGTCCACAAAGTAGAGCTACTA	ENSP00000353174.7:n.800+54_800+55insAGAATAGTCCACAAAGTAGAGCTAC...
ENST00000366574.6:c.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA	ENSP00000355533.2:n.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTAC...
NM_001035.2:c.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA	NP_001026.2:n.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA
XM_006711802.2:c.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA	XP_006711865.1:n.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA
XM_006711803.2:c.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA	XP_006711866.1:n.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA
XM_006711804.2:c.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA	XP_006711867.1:n.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA
XM_006711805.2:c.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA	XP_006711868.1:n.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA
XM_006711806.2:c.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA	XP_006711869.1:n.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA
XM_006711807.2:c.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA	XP_006711870.1:n.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA
XM_006711808.2:c.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA	XP_006711871.1:n.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA
XM_006711809.2:c.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA	XP_006711872.1:n.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA
XM_006711810.2:c.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA	XP_006711873.1:n.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA
XR_949152.1:n.1129+54_1129+55insAGAATAGTCCACAAAGTAGAGCTACTA
XM_006711802.3:c.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA	XP_006711865.1:n.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA
XM_006711803.3:c.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA	XP_006711866.1:n.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA
XM_006711804.3:c.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA	XP_006711867.1:n.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA
XM_006711805.3:c.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA	XP_006711868.1:n.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA
XM_006711806.3:c.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA	XP_006711869.1:n.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA
XM_006711807.3:c.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA	XP_006711870.1:n.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA
XM_006711808.3:c.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA	XP_006711871.1:n.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA
XM_006711810.3:c.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA	XP_006711873.1:n.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA
XM_017002028.1:c.827+54_827+55insAGAATAGTCCACAAAGTAGAGCTACTA	XP_016857517.1:n.827+54_827+55insAGAATAGTCCACAAAGTAGAGCTACTA
XR_002957299.1:n.1162+54_1162+55insAGAATAGTCCACAAAGTAGAGCTACTA
XR_949152.2:n.1162+54_1162+55insAGAATAGTCCACAAAGTAGAGCTACTA
NM_001035.3:c.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA MANE Select	NP_001026.2:n.848+54_848+55insAGAATAGTCCACAAAGTAGAGCTACTA