Canonical Allele Identifier: CA2487493391

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808957A= , CM000663.2:g.237808957A=	GRCh38
NC_000001.10:g.237972257A= , CM000663.1:g.237972257A=	GRCh37
NC_000001.9:g.236038880A=	NCBI36
NG_008799.2:g.771556A=
NG_008799.3:g.771774A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5447A=	ENSP00000499659.2:n.*5447A=
ENST00000659194.3:c.14337A=	ENSP00000499653.3:p.Ala4779=
ENST00000660292.2:c.14376A=	ENSP00000499787.2:p.Ala4792=
ENST00000659194.2:c.6526A=
ENST00000366574.7:c.14355A= MANE Select	ENSP00000355533.2:p.Ala4785=
ENST00000360064.7:c.14304A=	ENSP00000353174.7:p.Ala4768=
ENST00000366574.6:c.14355A=	ENSP00000355533.2:p.Ala4785=
ENST00000608590.5:n.866A=
NM_001035.2:c.14355A=	NP_001026.2:p.Ala4785=
XM_006711802.2:c.14409A=	XP_006711865.1:p.Ala4803=
XM_006711803.2:c.14406A=	XP_006711866.1:p.Ala4802=
XM_006711804.2:c.14385A=	XP_006711867.1:p.Ala4795=
XM_006711805.2:c.14379A=	XP_006711868.1:p.Ala4793=
XM_006711806.2:c.14373A=	XP_006711869.1:p.Ala4791=
XM_006711807.2:c.14349A=	XP_006711870.1:p.Ala4783=
XM_006711808.2:c.14172A=	XP_006711871.1:p.Ala4724=
XM_006711810.2:c.14316A=	XP_006711873.1:p.Ala4772=
XM_006711802.3:c.14409A=	XP_006711865.1:p.Ala4803=
XM_006711803.3:c.14406A=	XP_006711866.1:p.Ala4802=
XM_006711804.3:c.14385A=	XP_006711867.1:p.Ala4795=
XM_006711805.3:c.14379A=	XP_006711868.1:p.Ala4793=
XM_006711806.3:c.14373A=	XP_006711869.1:p.Ala4791=
XM_006711807.3:c.14349A=	XP_006711870.1:p.Ala4783=
XM_006711808.3:c.14172A=	XP_006711871.1:p.Ala4724=
XM_006711810.3:c.14316A=	XP_006711873.1:p.Ala4772=
XM_017002028.1:c.14388A=	XP_016857517.1:p.Ala4796=
NM_001035.3:c.14355A= MANE Select	NP_001026.2:p.Ala4785=