Canonical Allele Identifier: CA345418069

Gene: RYR2

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237793907G>A , CM000663.2:g.237793907G>A	GRCh38
NC_000001.10:g.237957207G>A , CM000663.1:g.237957207G>A	GRCh37
NC_000001.9:g.236023830G>A	NCBI36
NG_008799.2:g.756506G>A
NG_008799.3:g.756724G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*4915G>A	ENSP00000499659.2:n.*4915G>A
ENST00000659194.3:c.13805G>A	ENSP00000499653.3:p.Arg4602Gln
ENST00000660292.2:c.13844G>A	ENSP00000499787.2:p.Arg4615Gln
ENST00000659194.2:c.5994G>A
ENST00000366574.7:c.13823G>A MANE Select	ENSP00000355533.2:p.Arg4608Gln
ENST00000660292.1:c.3876G>A
ENST00000360064.7:c.13772G>A	ENSP00000353174.7:p.Arg4591Gln
ENST00000366574.6:c.13823G>A	ENSP00000355533.2:p.Arg4608Gln
ENST00000608590.5:n.334G>A
NM_001035.2:c.13823G>A	NP_001026.2:p.Arg4608Gln
XM_006711802.2:c.13877G>A	XP_006711865.1:p.Arg4626Gln
XM_006711803.2:c.13874G>A	XP_006711866.1:p.Arg4625Gln
XM_006711804.2:c.13853G>A	XP_006711867.1:p.Arg4618Gln
XM_006711805.2:c.13847G>A	XP_006711868.1:p.Arg4616Gln
XM_006711806.2:c.13841G>A	XP_006711869.1:p.Arg4614Gln
XM_006711807.2:c.13817G>A	XP_006711870.1:p.Arg4606Gln
XM_006711808.2:c.13640G>A	XP_006711871.1:p.Arg4547Gln
XM_006711810.2:c.13784G>A	XP_006711873.1:p.Arg4595Gln
XM_006711802.3:c.13877G>A	XP_006711865.1:p.Arg4626Gln
XM_006711803.3:c.13874G>A	XP_006711866.1:p.Arg4625Gln
XM_006711804.3:c.13853G>A	XP_006711867.1:p.Arg4618Gln
XM_006711805.3:c.13847G>A	XP_006711868.1:p.Arg4616Gln
XM_006711806.3:c.13841G>A	XP_006711869.1:p.Arg4614Gln
XM_006711807.3:c.13817G>A	XP_006711870.1:p.Arg4606Gln
XM_006711808.3:c.13640G>A	XP_006711871.1:p.Arg4547Gln
XM_006711810.3:c.13784G>A	XP_006711873.1:p.Arg4595Gln
XM_017002028.1:c.13856G>A	XP_016857517.1:p.Arg4619Gln
NM_001035.3:c.13823G>A MANE Select	NP_001026.2:p.Arg4608Gln