Canonical Allele Identifier: CA085430

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.237792206C>T , CM000663.2:g.237792206C>T	GRCh38
NC_000001.10:g.237955506C>T , CM000663.1:g.237955506C>T	GRCh37
NC_000001.9:g.236022129C>T	NCBI36
NG_008799.2:g.754805C>T
NG_008799.3:g.755023C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*4757C>T	ENSP00000499659.2:n.*4757C>T
ENST00000659194.3:c.13647C>T	ENSP00000499653.3:p.Ile4549=
ENST00000660292.2:c.13686C>T	ENSP00000499787.2:p.Ile4562=
ENST00000659194.2:c.5836C>T
ENST00000366574.7:c.13665C>T MANE Select	ENSP00000355533.2:p.Ile4555=
ENST00000660292.1:c.3718C>T
ENST00000360064.7:c.13614C>T	ENSP00000353174.7:p.Ile4538=
ENST00000366574.6:c.13665C>T	ENSP00000355533.2:p.Ile4555=
ENST00000608590.5:n.176C>T
NM_001035.2:c.13665C>T	NP_001026.2:p.Ile4555=
XM_006711802.2:c.13719C>T	XP_006711865.1:p.Ile4573=
XM_006711803.2:c.13716C>T	XP_006711866.1:p.Ile4572=
XM_006711804.2:c.13695C>T	XP_006711867.1:p.Ile4565=
XM_006711805.2:c.13689C>T	XP_006711868.1:p.Ile4563=
XM_006711806.2:c.13683C>T	XP_006711869.1:p.Ile4561=
XM_006711807.2:c.13659C>T	XP_006711870.1:p.Ile4553=
XM_006711808.2:c.13482C>T	XP_006711871.1:p.Ile4494=
XM_006711810.2:c.13626C>T	XP_006711873.1:p.Ile4542=
XM_006711802.3:c.13719C>T	XP_006711865.1:p.Ile4573=
XM_006711803.3:c.13716C>T	XP_006711866.1:p.Ile4572=
XM_006711804.3:c.13695C>T	XP_006711867.1:p.Ile4565=
XM_006711805.3:c.13689C>T	XP_006711868.1:p.Ile4563=
XM_006711806.3:c.13683C>T	XP_006711869.1:p.Ile4561=
XM_006711807.3:c.13659C>T	XP_006711870.1:p.Ile4553=
XM_006711808.3:c.13482C>T	XP_006711871.1:p.Ile4494=
XM_006711810.3:c.13626C>T	XP_006711873.1:p.Ile4542=
XM_017002028.1:c.13698C>T	XP_016857517.1:p.Ile4566=
NM_001035.3:c.13665C>T MANE Select	NP_001026.2:p.Ile4555=