Canonical Allele Identifier: CA085195

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.237784252C>T , CM000663.2:g.237784252C>T	GRCh38
NC_000001.10:g.237947552C>T , CM000663.1:g.237947552C>T	GRCh37
NC_000001.9:g.236014175C>T	NCBI36
NG_008799.2:g.746851C>T
NG_008799.3:g.747069C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3632C>T	ENSP00000499659.2:n.*3632C>T
ENST00000659194.3:c.12528C>T	ENSP00000499653.3:p.Gly4176=
ENST00000660292.2:c.12561C>T	ENSP00000499787.2:p.Gly4187=
ENST00000659194.2:c.4717C>T
ENST00000366574.7:c.12540C>T MANE Select	ENSP00000355533.2:p.Gly4180=
ENST00000659194.1:c.4717C>T
ENST00000660292.1:c.2593C>T
ENST00000360064.7:c.12492C>T	ENSP00000353174.7:p.Gly4164=
ENST00000366574.6:c.12540C>T	ENSP00000355533.2:p.Gly4180=
ENST00000609119.1:n.3735C>T
NM_001035.2:c.12540C>T	NP_001026.2:p.Gly4180=
XM_006711802.2:c.12594C>T	XP_006711865.1:p.Gly4198=
XM_006711803.2:c.12591C>T	XP_006711866.1:p.Gly4197=
XM_006711804.2:c.12570C>T	XP_006711867.1:p.Gly4190=
XM_006711805.2:c.12564C>T	XP_006711868.1:p.Gly4188=
XM_006711806.2:c.12558C>T	XP_006711869.1:p.Gly4186=
XM_006711807.2:c.12534C>T	XP_006711870.1:p.Gly4178=
XM_006711808.2:c.12357C>T	XP_006711871.1:p.Gly4119=
XM_006711810.2:c.12501C>T	XP_006711873.1:p.Gly4167=
XM_006711802.3:c.12594C>T	XP_006711865.1:p.Gly4198=
XM_006711803.3:c.12591C>T	XP_006711866.1:p.Gly4197=
XM_006711804.3:c.12570C>T	XP_006711867.1:p.Gly4190=
XM_006711805.3:c.12564C>T	XP_006711868.1:p.Gly4188=
XM_006711806.3:c.12558C>T	XP_006711869.1:p.Gly4186=
XM_006711807.3:c.12534C>T	XP_006711870.1:p.Gly4178=
XM_006711808.3:c.12357C>T	XP_006711871.1:p.Gly4119=
XM_006711810.3:c.12501C>T	XP_006711873.1:p.Gly4167=
XM_017002028.1:c.12573C>T	XP_016857517.1:p.Gly4191=
NM_001035.3:c.12540C>T MANE Select	NP_001026.2:p.Gly4180=