Canonical Allele Identifier: CA008032

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237792276C>T , CM000663.2:g.237792276C>T	GRCh38
NC_000001.10:g.237955576C>T , CM000663.1:g.237955576C>T	GRCh37
NC_000001.9:g.236022199C>T	NCBI36
NG_008799.2:g.754875C>T
NG_008799.3:g.755093C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*4827C>T	ENSP00000499659.2:n.*4827C>T
ENST00000659194.3:c.13717C>T	ENSP00000499653.3:p.His4573Tyr
ENST00000660292.2:c.13756C>T	ENSP00000499787.2:p.His4586Tyr
ENST00000659194.2:c.5906C>T
ENST00000366574.7:c.13735C>T MANE Select	ENSP00000355533.2:p.His4579Tyr
ENST00000660292.1:c.3788C>T
ENST00000360064.7:c.13684C>T	ENSP00000353174.7:p.His4562Tyr
ENST00000366574.6:c.13735C>T	ENSP00000355533.2:p.His4579Tyr
ENST00000608590.5:n.246C>T
NM_001035.2:c.13735C>T	NP_001026.2:p.His4579Tyr
XM_006711802.2:c.13789C>T	XP_006711865.1:p.His4597Tyr
XM_006711803.2:c.13786C>T	XP_006711866.1:p.His4596Tyr
XM_006711804.2:c.13765C>T	XP_006711867.1:p.His4589Tyr
XM_006711805.2:c.13759C>T	XP_006711868.1:p.His4587Tyr
XM_006711806.2:c.13753C>T	XP_006711869.1:p.His4585Tyr
XM_006711807.2:c.13729C>T	XP_006711870.1:p.His4577Tyr
XM_006711808.2:c.13552C>T	XP_006711871.1:p.His4518Tyr
XM_006711810.2:c.13696C>T	XP_006711873.1:p.His4566Tyr
XM_006711802.3:c.13789C>T	XP_006711865.1:p.His4597Tyr
XM_006711803.3:c.13786C>T	XP_006711866.1:p.His4596Tyr
XM_006711804.3:c.13765C>T	XP_006711867.1:p.His4589Tyr
XM_006711805.3:c.13759C>T	XP_006711868.1:p.His4587Tyr
XM_006711806.3:c.13753C>T	XP_006711869.1:p.His4585Tyr
XM_006711807.3:c.13729C>T	XP_006711870.1:p.His4577Tyr
XM_006711808.3:c.13552C>T	XP_006711871.1:p.His4518Tyr
XM_006711810.3:c.13696C>T	XP_006711873.1:p.His4566Tyr
XM_017002028.1:c.13768C>T	XP_016857517.1:p.His4590Tyr
NM_001035.3:c.13735C>T MANE Select	NP_001026.2:p.His4579Tyr