Canonical Allele Identifier: CA2487493378

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808926C= , CM000663.2:g.237808926C=	GRCh38
NC_000001.10:g.237972226C= , CM000663.1:g.237972226C=	GRCh37
NC_000001.9:g.236038849C=	NCBI36
NG_008799.2:g.771525C=
NG_008799.3:g.771743C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*5416C=	ENSP00000499659.2:n.*5416C=
ENST00000659194.3:c.14306C=	ENSP00000499653.3:p.Ala4769=
ENST00000660292.2:c.14345C=	ENSP00000499787.2:p.Ala4782=
ENST00000659194.2:c.6495C=
ENST00000366574.7:c.14324C= MANE Select	ENSP00000355533.2:p.Ala4775=
ENST00000360064.7:c.14273C=	ENSP00000353174.7:p.Ala4758=
ENST00000366574.6:c.14324C=	ENSP00000355533.2:p.Ala4775=
ENST00000608590.5:n.835C=
NM_001035.2:c.14324C=	NP_001026.2:p.Ala4775=
XM_006711802.2:c.14378C=	XP_006711865.1:p.Ala4793=
XM_006711803.2:c.14375C=	XP_006711866.1:p.Ala4792=
XM_006711804.2:c.14354C=	XP_006711867.1:p.Ala4785=
XM_006711805.2:c.14348C=	XP_006711868.1:p.Ala4783=
XM_006711806.2:c.14342C=	XP_006711869.1:p.Ala4781=
XM_006711807.2:c.14318C=	XP_006711870.1:p.Ala4773=
XM_006711808.2:c.14141C=	XP_006711871.1:p.Ala4714=
XM_006711810.2:c.14285C=	XP_006711873.1:p.Ala4762=
XM_006711802.3:c.14378C=	XP_006711865.1:p.Ala4793=
XM_006711803.3:c.14375C=	XP_006711866.1:p.Ala4792=
XM_006711804.3:c.14354C=	XP_006711867.1:p.Ala4785=
XM_006711805.3:c.14348C=	XP_006711868.1:p.Ala4783=
XM_006711806.3:c.14342C=	XP_006711869.1:p.Ala4781=
XM_006711807.3:c.14318C=	XP_006711870.1:p.Ala4773=
XM_006711808.3:c.14141C=	XP_006711871.1:p.Ala4714=
XM_006711810.3:c.14285C=	XP_006711873.1:p.Ala4762=
XM_017002028.1:c.14357C=	XP_016857517.1:p.Ala4786=
NM_001035.3:c.14324C= MANE Select	NP_001026.2:p.Ala4775=