Canonical Allele Identifier: CA1148225098

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237828425C= , CM000663.2:g.237828425C=	GRCh38
NC_000001.10:g.237991725C= , CM000663.1:g.237991725C=	GRCh37
NC_000001.9:g.236058348C=	NCBI36
NG_008799.2:g.791024C=
NG_008799.3:g.791242C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5727C=	ENSP00000499659.2:n.*5727C=
ENST00000659194.3:c.14617C=	ENSP00000499653.3:p.Gln4873=
ENST00000660292.2:c.14656C=	ENSP00000499787.2:p.Gln4886=
ENST00000659194.2:c.6806C=
ENST00000366574.7:c.14635C= MANE Select	ENSP00000355533.2:p.Gln4879=
ENST00000360064.7:c.14584C=	ENSP00000353174.7:p.Gln4862=
ENST00000366574.6:c.14635C=	ENSP00000355533.2:p.Gln4879=
ENST00000608590.5:n.1146C=
NM_001035.2:c.14635C=	NP_001026.2:p.Gln4879=
XM_006711802.2:c.14689C=	XP_006711865.1:p.Gln4897=
XM_006711803.2:c.14686C=	XP_006711866.1:p.Gln4896=
XM_006711804.2:c.14665C=	XP_006711867.1:p.Gln4889=
XM_006711805.2:c.14659C=	XP_006711868.1:p.Gln4887=
XM_006711806.2:c.14653C=	XP_006711869.1:p.Gln4885=
XM_006711807.2:c.14629C=	XP_006711870.1:p.Gln4877=
XM_006711808.2:c.14452C=	XP_006711871.1:p.Gln4818=
XM_006711810.2:c.14596C=	XP_006711873.1:p.Gln4866=
XM_006711802.3:c.14689C=	XP_006711865.1:p.Gln4897=
XM_006711803.3:c.14686C=	XP_006711866.1:p.Gln4896=
XM_006711804.3:c.14665C=	XP_006711867.1:p.Gln4889=
XM_006711805.3:c.14659C=	XP_006711868.1:p.Gln4887=
XM_006711806.3:c.14653C=	XP_006711869.1:p.Gln4885=
XM_006711807.3:c.14629C=	XP_006711870.1:p.Gln4877=
XM_006711808.3:c.14452C=	XP_006711871.1:p.Gln4818=
XM_006711810.3:c.14596C=	XP_006711873.1:p.Gln4866=
XM_017002028.1:c.14668C=	XP_016857517.1:p.Gln4890=
NM_001035.3:c.14635C= MANE Select	NP_001026.2:p.Gln4879=