Canonical Allele Identifier: CA424051697

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972218C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808918C>A , CM000663.2:g.237808918C>A	GRCh38
NC_000001.10:g.237972218C>A , CM000663.1:g.237972218C>A	GRCh37
NC_000001.9:g.236038841C>A	NCBI36
NG_008799.2:g.771517C>A
NG_008799.3:g.771735C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*5408C>A	ENSP00000499659.2:n.*5408C>A
ENST00000659194.3:c.14298C>A	ENSP00000499653.3:p.Gly4766=
ENST00000660292.2:c.14337C>A	ENSP00000499787.2:p.Gly4779=
ENST00000659194.2:c.6487C>A
ENST00000366574.7:c.14316C>A MANE Select	ENSP00000355533.2:p.Gly4772=
ENST00000360064.7:c.14265C>A	ENSP00000353174.7:p.Gly4755=
ENST00000366574.6:c.14316C>A	ENSP00000355533.2:p.Gly4772=
ENST00000608590.5:n.827C>A
NM_001035.2:c.14316C>A	NP_001026.2:p.Gly4772=
XM_006711802.2:c.14370C>A	XP_006711865.1:p.Gly4790=
XM_006711803.2:c.14367C>A	XP_006711866.1:p.Gly4789=
XM_006711804.2:c.14346C>A	XP_006711867.1:p.Gly4782=
XM_006711805.2:c.14340C>A	XP_006711868.1:p.Gly4780=
XM_006711806.2:c.14334C>A	XP_006711869.1:p.Gly4778=
XM_006711807.2:c.14310C>A	XP_006711870.1:p.Gly4770=
XM_006711808.2:c.14133C>A	XP_006711871.1:p.Gly4711=
XM_006711810.2:c.14277C>A	XP_006711873.1:p.Gly4759=
XM_006711802.3:c.14370C>A	XP_006711865.1:p.Gly4790=
XM_006711803.3:c.14367C>A	XP_006711866.1:p.Gly4789=
XM_006711804.3:c.14346C>A	XP_006711867.1:p.Gly4782=
XM_006711805.3:c.14340C>A	XP_006711868.1:p.Gly4780=
XM_006711806.3:c.14334C>A	XP_006711869.1:p.Gly4778=
XM_006711807.3:c.14310C>A	XP_006711870.1:p.Gly4770=
XM_006711808.3:c.14133C>A	XP_006711871.1:p.Gly4711=
XM_006711810.3:c.14277C>A	XP_006711873.1:p.Gly4759=
XM_017002028.1:c.14349C>A	XP_016857517.1:p.Gly4783=
NM_001035.3:c.14316C>A MANE Select	NP_001026.2:p.Gly4772=