Canonical Allele Identifier: CA16603660

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237830633G>A , CM000663.2:g.237830633G>A	GRCh38
NC_000001.10:g.237993933G>A , CM000663.1:g.237993933G>A	GRCh37
NC_000001.9:g.236060556G>A	NCBI36
NG_008799.2:g.793232G>A
NG_008799.3:g.793450G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.14756+3G>A MANE Select	NP_001026.2:n.14756+3G>A
ENST00000366574.7:c.14756+3G>A MANE Select	ENSP00000355533.2:n.14756+3G>A
NM_001035.2:c.14756+3G>A	NP_001026.2:n.14756+3G>A
ENST00000360064.7:c.14705+3G>A	ENSP00000353174.7:n.14705+3G>A
ENST00000366574.6:c.14756+3G>A	ENSP00000355533.2:n.14756+3G>A
ENST00000462585.1:n.599+3G>A
ENST00000608590.5:n.1167-881G>A
ENST00000609119.2:c.*5848+3G>A	ENSP00000499659.2:n.*5848+3G>A
ENST00000659194.2:c.6927+3G>A
ENST00000659194.3:c.14738+3G>A	ENSP00000499653.3:n.14738+3G>A
ENST00000660292.2:c.14777+3G>A	ENSP00000499787.2:n.14777+3G>A
XM_006711802.2:c.14810+3G>A	XP_006711865.1:n.14810+3G>A
XM_006711802.3:c.14810+3G>A	XP_006711865.1:n.14810+3G>A
XM_006711803.2:c.14807+3G>A	XP_006711866.1:n.14807+3G>A
XM_006711803.3:c.14807+3G>A	XP_006711866.1:n.14807+3G>A
XM_006711804.2:c.14786+3G>A	XP_006711867.1:n.14786+3G>A
XM_006711804.3:c.14786+3G>A	XP_006711867.1:n.14786+3G>A
XM_006711805.2:c.14780+3G>A	XP_006711868.1:n.14780+3G>A
XM_006711805.3:c.14780+3G>A	XP_006711868.1:n.14780+3G>A
XM_006711806.2:c.14774+3G>A	XP_006711869.1:n.14774+3G>A
XM_006711806.3:c.14774+3G>A	XP_006711869.1:n.14774+3G>A
XM_006711807.2:c.14750+3G>A	XP_006711870.1:n.14750+3G>A
XM_006711807.3:c.14750+3G>A	XP_006711870.1:n.14750+3G>A
XM_006711808.2:c.14573+3G>A	XP_006711871.1:n.14573+3G>A
XM_006711808.3:c.14573+3G>A	XP_006711871.1:n.14573+3G>A
XM_006711810.2:c.14717+3G>A	XP_006711873.1:n.14717+3G>A
XM_006711810.3:c.14717+3G>A	XP_006711873.1:n.14717+3G>A
XM_017002028.1:c.14789+3G>A	XP_016857517.1:n.14789+3G>A