Canonical Allele Identifier: CA2487493405

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809004C= , CM000663.2:g.237809004C=	GRCh38
NC_000001.10:g.237972304C= , CM000663.1:g.237972304C=	GRCh37
NC_000001.9:g.236038927C=	NCBI36
NG_008799.2:g.771603C=
NG_008799.3:g.771821C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5494C=	ENSP00000499659.2:n.*5494C=
ENST00000659194.3:c.14384C=	ENSP00000499653.3:p.Thr4795=
ENST00000660292.2:c.14423C=	ENSP00000499787.2:p.Thr4808=
ENST00000659194.2:c.6573C=
ENST00000366574.7:c.14402C= MANE Select	ENSP00000355533.2:p.Thr4801=
ENST00000360064.7:c.14351C=	ENSP00000353174.7:p.Thr4784=
ENST00000366574.6:c.14402C=	ENSP00000355533.2:p.Thr4801=
ENST00000608590.5:n.913C=
NM_001035.2:c.14402C=	NP_001026.2:p.Thr4801=
XM_006711802.2:c.14456C=	XP_006711865.1:p.Thr4819=
XM_006711803.2:c.14453C=	XP_006711866.1:p.Thr4818=
XM_006711804.2:c.14432C=	XP_006711867.1:p.Thr4811=
XM_006711805.2:c.14426C=	XP_006711868.1:p.Thr4809=
XM_006711806.2:c.14420C=	XP_006711869.1:p.Thr4807=
XM_006711807.2:c.14396C=	XP_006711870.1:p.Thr4799=
XM_006711808.2:c.14219C=	XP_006711871.1:p.Thr4740=
XM_006711810.2:c.14363C=	XP_006711873.1:p.Thr4788=
XM_006711802.3:c.14456C=	XP_006711865.1:p.Thr4819=
XM_006711803.3:c.14453C=	XP_006711866.1:p.Thr4818=
XM_006711804.3:c.14432C=	XP_006711867.1:p.Thr4811=
XM_006711805.3:c.14426C=	XP_006711868.1:p.Thr4809=
XM_006711806.3:c.14420C=	XP_006711869.1:p.Thr4807=
XM_006711807.3:c.14396C=	XP_006711870.1:p.Thr4799=
XM_006711808.3:c.14219C=	XP_006711871.1:p.Thr4740=
XM_006711810.3:c.14363C=	XP_006711873.1:p.Thr4788=
XM_017002028.1:c.14435C=	XP_016857517.1:p.Thr4812=
NM_001035.3:c.14402C= MANE Select	NP_001026.2:p.Thr4801=