Canonical Allele Identifier: CA2487482485

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784360G= , CM000663.2:g.237784360G=	GRCh38
NC_000001.10:g.237947660G= , CM000663.1:g.237947660G=	GRCh37
NC_000001.9:g.236014283G=	NCBI36
NG_008799.2:g.746959G=
NG_008799.3:g.747177G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3740G=	ENSP00000499659.2:n.*3740G=
ENST00000659194.3:c.12636G=	ENSP00000499653.3:p.Ala4212=
ENST00000660292.2:c.12669G=	ENSP00000499787.2:p.Ala4223=
ENST00000659194.2:c.4825G=
ENST00000366574.7:c.12648G= MANE Select	ENSP00000355533.2:p.Ala4216=
ENST00000659194.1:c.4825G=
ENST00000660292.1:c.2701G=
ENST00000360064.7:c.12600G=	ENSP00000353174.7:p.Ala4200=
ENST00000366574.6:c.12648G=	ENSP00000355533.2:p.Ala4216=
ENST00000609119.1:n.3843G=
NM_001035.2:c.12648G=	NP_001026.2:p.Ala4216=
XM_006711802.2:c.12702G=	XP_006711865.1:p.Ala4234=
XM_006711803.2:c.12699G=	XP_006711866.1:p.Ala4233=
XM_006711804.2:c.12678G=	XP_006711867.1:p.Ala4226=
XM_006711805.2:c.12672G=	XP_006711868.1:p.Ala4224=
XM_006711806.2:c.12666G=	XP_006711869.1:p.Ala4222=
XM_006711807.2:c.12642G=	XP_006711870.1:p.Ala4214=
XM_006711808.2:c.12465G=	XP_006711871.1:p.Ala4155=
XM_006711810.2:c.12609G=	XP_006711873.1:p.Ala4203=
XM_006711802.3:c.12702G=	XP_006711865.1:p.Ala4234=
XM_006711803.3:c.12699G=	XP_006711866.1:p.Ala4233=
XM_006711804.3:c.12678G=	XP_006711867.1:p.Ala4226=
XM_006711805.3:c.12672G=	XP_006711868.1:p.Ala4224=
XM_006711806.3:c.12666G=	XP_006711869.1:p.Ala4222=
XM_006711807.3:c.12642G=	XP_006711870.1:p.Ala4214=
XM_006711808.3:c.12465G=	XP_006711871.1:p.Ala4155=
XM_006711810.3:c.12609G=	XP_006711873.1:p.Ala4203=
XM_017002028.1:c.12681G=	XP_016857517.1:p.Ala4227=
NM_001035.3:c.12648G= MANE Select	NP_001026.2:p.Ala4216=