Canonical Allele Identifier: CA2487327825

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237417163_237417167delinsTACCA , CM000663.2:g.237417163_237417167delinsTACCA	GRCh38
NC_000001.10:g.237580463_237580467delinsTACCA , CM000663.1:g.237580463_237580467delinsTACCA	GRCh37
NC_000001.9:g.235647086_235647090delinsTACCA	NCBI36
NG_008799.2:g.379762_379766delinsTACCA
NG_008799.3:g.379980_379984delinsTACCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.848+40_848+44delinsTACCA	ENSP00000499659.2:n.848+40_848+44delinsTACCA
ENST00000659194.3:c.848+40_848+44delinsTACCA	ENSP00000499653.3:n.848+40_848+44delinsTACCA
ENST00000660292.2:c.848+40_848+44delinsTACCA	ENSP00000499787.2:n.848+40_848+44delinsTACCA
ENST00000366574.7:c.848+40_848+44delinsTACCA MANE Select	ENSP00000355533.2:n.848+40_848+44delinsTACCA
ENST00000360064.7:c.800+40_800+44delinsTACCA	ENSP00000353174.7:n.800+40_800+44delinsTACCA
ENST00000366574.6:c.848+40_848+44delinsTACCA	ENSP00000355533.2:n.848+40_848+44delinsTACCA
NM_001035.2:c.848+40_848+44delinsTACCA	NP_001026.2:n.848+40_848+44delinsTACCA
XM_006711802.2:c.848+40_848+44delinsTACCA	XP_006711865.1:n.848+40_848+44delinsTACCA
XM_006711803.2:c.848+40_848+44delinsTACCA	XP_006711866.1:n.848+40_848+44delinsTACCA
XM_006711804.2:c.848+40_848+44delinsTACCA	XP_006711867.1:n.848+40_848+44delinsTACCA
XM_006711805.2:c.848+40_848+44delinsTACCA	XP_006711868.1:n.848+40_848+44delinsTACCA
XM_006711806.2:c.848+40_848+44delinsTACCA	XP_006711869.1:n.848+40_848+44delinsTACCA
XM_006711807.2:c.848+40_848+44delinsTACCA	XP_006711870.1:n.848+40_848+44delinsTACCA
XM_006711808.2:c.848+40_848+44delinsTACCA	XP_006711871.1:n.848+40_848+44delinsTACCA
XM_006711809.2:c.848+40_848+44delinsTACCA	XP_006711872.1:n.848+40_848+44delinsTACCA
XM_006711810.2:c.848+40_848+44delinsTACCA	XP_006711873.1:n.848+40_848+44delinsTACCA
XR_949152.1:n.1129+40_1129+44delinsTACCA
XM_006711802.3:c.848+40_848+44delinsTACCA	XP_006711865.1:n.848+40_848+44delinsTACCA
XM_006711803.3:c.848+40_848+44delinsTACCA	XP_006711866.1:n.848+40_848+44delinsTACCA
XM_006711804.3:c.848+40_848+44delinsTACCA	XP_006711867.1:n.848+40_848+44delinsTACCA
XM_006711805.3:c.848+40_848+44delinsTACCA	XP_006711868.1:n.848+40_848+44delinsTACCA
XM_006711806.3:c.848+40_848+44delinsTACCA	XP_006711869.1:n.848+40_848+44delinsTACCA
XM_006711807.3:c.848+40_848+44delinsTACCA	XP_006711870.1:n.848+40_848+44delinsTACCA
XM_006711808.3:c.848+40_848+44delinsTACCA	XP_006711871.1:n.848+40_848+44delinsTACCA
XM_006711810.3:c.848+40_848+44delinsTACCA	XP_006711873.1:n.848+40_848+44delinsTACCA
XM_017002028.1:c.827+40_827+44delinsTACCA	XP_016857517.1:n.827+40_827+44delinsTACCA
XR_002957299.1:n.1162+40_1162+44delinsTACCA
XR_949152.2:n.1162+40_1162+44delinsTACCA
NM_001035.3:c.848+40_848+44delinsTACCA MANE Select	NP_001026.2:n.848+40_848+44delinsTACCA