Canonical Allele Identifier: CA2487501694

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237828415C= , CM000663.2:g.237828415C=	GRCh38
NC_000001.10:g.237991715C= , CM000663.1:g.237991715C=	GRCh37
NC_000001.9:g.236058338C=	NCBI36
NG_008799.2:g.791014C=
NG_008799.3:g.791232C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*5717C=	ENSP00000499659.2:n.*5717C=
ENST00000659194.3:c.14607C=	ENSP00000499653.3:p.Asp4869=
ENST00000660292.2:c.14646C=	ENSP00000499787.2:p.Asp4882=
ENST00000659194.2:c.6796C=
ENST00000366574.7:c.14625C= MANE Select	ENSP00000355533.2:p.Asp4875=
ENST00000360064.7:c.14574C=	ENSP00000353174.7:p.Asp4858=
ENST00000366574.6:c.14625C=	ENSP00000355533.2:p.Asp4875=
ENST00000608590.5:n.1136C=
NM_001035.2:c.14625C=	NP_001026.2:p.Asp4875=
XM_006711802.2:c.14679C=	XP_006711865.1:p.Asp4893=
XM_006711803.2:c.14676C=	XP_006711866.1:p.Asp4892=
XM_006711804.2:c.14655C=	XP_006711867.1:p.Asp4885=
XM_006711805.2:c.14649C=	XP_006711868.1:p.Asp4883=
XM_006711806.2:c.14643C=	XP_006711869.1:p.Asp4881=
XM_006711807.2:c.14619C=	XP_006711870.1:p.Asp4873=
XM_006711808.2:c.14442C=	XP_006711871.1:p.Asp4814=
XM_006711810.2:c.14586C=	XP_006711873.1:p.Asp4862=
XM_006711802.3:c.14679C=	XP_006711865.1:p.Asp4893=
XM_006711803.3:c.14676C=	XP_006711866.1:p.Asp4892=
XM_006711804.3:c.14655C=	XP_006711867.1:p.Asp4885=
XM_006711805.3:c.14649C=	XP_006711868.1:p.Asp4883=
XM_006711806.3:c.14643C=	XP_006711869.1:p.Asp4881=
XM_006711807.3:c.14619C=	XP_006711870.1:p.Asp4873=
XM_006711808.3:c.14442C=	XP_006711871.1:p.Asp4814=
XM_006711810.3:c.14586C=	XP_006711873.1:p.Asp4862=
XM_017002028.1:c.14658C=	XP_016857517.1:p.Asp4886=
NM_001035.3:c.14625C= MANE Select	NP_001026.2:p.Asp4875=