Canonical Allele Identifier: CA10586348

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237792278C>A , CM000663.2:g.237792278C>A	GRCh38
NC_000001.10:g.237955578C>A , CM000663.1:g.237955578C>A	GRCh37
NC_000001.9:g.236022201C>A	NCBI36
NG_008799.2:g.754877C>A
NG_008799.3:g.755095C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*4829C>A	ENSP00000499659.2:n.*4829C>A
ENST00000659194.3:c.13719C>A	ENSP00000499653.3:p.His4573Gln
ENST00000660292.2:c.13758C>A	ENSP00000499787.2:p.His4586Gln
ENST00000659194.2:c.5908C>A
ENST00000366574.7:c.13737C>A MANE Select	ENSP00000355533.2:p.His4579Gln
ENST00000660292.1:c.3790C>A
ENST00000360064.7:c.13686C>A	ENSP00000353174.7:p.His4562Gln
ENST00000366574.6:c.13737C>A	ENSP00000355533.2:p.His4579Gln
ENST00000608590.5:n.248C>A
NM_001035.2:c.13737C>A	NP_001026.2:p.His4579Gln
XM_006711802.2:c.13791C>A	XP_006711865.1:p.His4597Gln
XM_006711803.2:c.13788C>A	XP_006711866.1:p.His4596Gln
XM_006711804.2:c.13767C>A	XP_006711867.1:p.His4589Gln
XM_006711805.2:c.13761C>A	XP_006711868.1:p.His4587Gln
XM_006711806.2:c.13755C>A	XP_006711869.1:p.His4585Gln
XM_006711807.2:c.13731C>A	XP_006711870.1:p.His4577Gln
XM_006711808.2:c.13554C>A	XP_006711871.1:p.His4518Gln
XM_006711810.2:c.13698C>A	XP_006711873.1:p.His4566Gln
XM_006711802.3:c.13791C>A	XP_006711865.1:p.His4597Gln
XM_006711803.3:c.13788C>A	XP_006711866.1:p.His4596Gln
XM_006711804.3:c.13767C>A	XP_006711867.1:p.His4589Gln
XM_006711805.3:c.13761C>A	XP_006711868.1:p.His4587Gln
XM_006711806.3:c.13755C>A	XP_006711869.1:p.His4585Gln
XM_006711807.3:c.13731C>A	XP_006711870.1:p.His4577Gln
XM_006711808.3:c.13554C>A	XP_006711871.1:p.His4518Gln
XM_006711810.3:c.13698C>A	XP_006711873.1:p.His4566Gln
XM_017002028.1:c.13770C>A	XP_016857517.1:p.His4590Gln
NM_001035.3:c.13737C>A MANE Select	NP_001026.2:p.His4579Gln