Canonical Allele Identifier: CA424051845

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237982485A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237819185A>C , CM000663.2:g.237819185A>C	GRCh38
NC_000001.10:g.237982485A>C , CM000663.1:g.237982485A>C	GRCh37
NC_000001.9:g.236049108A>C	NCBI36
NG_008799.2:g.781784A>C
NG_008799.3:g.782002A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*5675A>C	ENSP00000499659.2:n.*5675A>C
ENST00000659194.3:c.14565A>C	ENSP00000499653.3:p.Ile4855=
ENST00000660292.2:c.14604A>C	ENSP00000499787.2:p.Ile4868=
ENST00000659194.2:c.6754A>C
ENST00000366574.7:c.14583A>C MANE Select	ENSP00000355533.2:p.Ile4861=
ENST00000360064.7:c.14532A>C	ENSP00000353174.7:p.Ile4844=
ENST00000366574.6:c.14583A>C	ENSP00000355533.2:p.Ile4861=
ENST00000608590.5:n.1094A>C
NM_001035.2:c.14583A>C	NP_001026.2:p.Ile4861=
XM_006711802.2:c.14637A>C	XP_006711865.1:p.Ile4879=
XM_006711803.2:c.14634A>C	XP_006711866.1:p.Ile4878=
XM_006711804.2:c.14613A>C	XP_006711867.1:p.Ile4871=
XM_006711805.2:c.14607A>C	XP_006711868.1:p.Ile4869=
XM_006711806.2:c.14601A>C	XP_006711869.1:p.Ile4867=
XM_006711807.2:c.14577A>C	XP_006711870.1:p.Ile4859=
XM_006711808.2:c.14400A>C	XP_006711871.1:p.Ile4800=
XM_006711810.2:c.14544A>C	XP_006711873.1:p.Ile4848=
XM_006711802.3:c.14637A>C	XP_006711865.1:p.Ile4879=
XM_006711803.3:c.14634A>C	XP_006711866.1:p.Ile4878=
XM_006711804.3:c.14613A>C	XP_006711867.1:p.Ile4871=
XM_006711805.3:c.14607A>C	XP_006711868.1:p.Ile4869=
XM_006711806.3:c.14601A>C	XP_006711869.1:p.Ile4867=
XM_006711807.3:c.14577A>C	XP_006711870.1:p.Ile4859=
XM_006711808.3:c.14400A>C	XP_006711871.1:p.Ile4800=
XM_006711810.3:c.14544A>C	XP_006711873.1:p.Ile4848=
XM_017002028.1:c.14616A>C	XP_016857517.1:p.Ile4872=
NM_001035.3:c.14583A>C MANE Select	NP_001026.2:p.Ile4861=