Canonical Allele Identifier: CA345423407

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237806282A>C , CM000663.2:g.237806282A>C	GRCh38
NC_000001.10:g.237969582A>C , CM000663.1:g.237969582A>C	GRCh37
NC_000001.9:g.236036205A>C	NCBI36
NG_008799.2:g.768881A>C
NG_008799.3:g.769099A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.14297A>C MANE Select	NP_001026.2:p.Gln4766Pro
ENST00000366574.7:c.14297A>C MANE Select	ENSP00000355533.2:p.Gln4766Pro
NM_001035.2:c.14297A>C	NP_001026.2:p.Gln4766Pro
ENST00000360064.7:c.14246A>C	ENSP00000353174.7:p.Gln4749Pro
ENST00000366574.6:c.14297A>C	ENSP00000355533.2:p.Gln4766Pro
ENST00000608590.5:n.808A>C
ENST00000609119.2:c.*5389A>C	ENSP00000499659.2:n.*5389A>C
ENST00000659194.2:c.6468A>C
ENST00000659194.3:c.14279A>C	ENSP00000499653.3:p.Gln4760Pro
ENST00000660292.2:c.14318A>C	ENSP00000499787.2:p.Gln4773Pro
XM_006711802.2:c.14351A>C	XP_006711865.1:p.Gln4784Pro
XM_006711802.3:c.14351A>C	XP_006711865.1:p.Gln4784Pro
XM_006711803.2:c.14348A>C	XP_006711866.1:p.Gln4783Pro
XM_006711803.3:c.14348A>C	XP_006711866.1:p.Gln4783Pro
XM_006711804.2:c.14327A>C	XP_006711867.1:p.Gln4776Pro
XM_006711804.3:c.14327A>C	XP_006711867.1:p.Gln4776Pro
XM_006711805.2:c.14321A>C	XP_006711868.1:p.Gln4774Pro
XM_006711805.3:c.14321A>C	XP_006711868.1:p.Gln4774Pro
XM_006711806.2:c.14315A>C	XP_006711869.1:p.Gln4772Pro
XM_006711806.3:c.14315A>C	XP_006711869.1:p.Gln4772Pro
XM_006711807.2:c.14291A>C	XP_006711870.1:p.Gln4764Pro
XM_006711807.3:c.14291A>C	XP_006711870.1:p.Gln4764Pro
XM_006711808.2:c.14114A>C	XP_006711871.1:p.Gln4705Pro
XM_006711808.3:c.14114A>C	XP_006711871.1:p.Gln4705Pro
XM_006711810.2:c.14258A>C	XP_006711873.1:p.Gln4753Pro
XM_006711810.3:c.14258A>C	XP_006711873.1:p.Gln4753Pro
XM_017002028.1:c.14330A>C	XP_016857517.1:p.Gln4777Pro