Canonical Allele Identifier: CA007750

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.237784631C>T , CM000663.2:g.237784631C>T	GRCh38
NC_000001.10:g.237947931C>T , CM000663.1:g.237947931C>T	GRCh37
NC_000001.9:g.236014554C>T	NCBI36
NG_008799.2:g.747230C>T
NG_008799.3:g.747448C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*4011C>T	ENSP00000499659.2:n.*4011C>T
ENST00000659194.3:c.12907C>T	ENSP00000499653.3:p.Arg4303Cys
ENST00000660292.2:c.12940C>T	ENSP00000499787.2:p.Arg4314Cys
ENST00000659194.2:c.5096C>T
ENST00000366574.7:c.12919C>T MANE Select	ENSP00000355533.2:p.Arg4307Cys
ENST00000659194.1:c.5096C>T
ENST00000660292.1:c.2972C>T
ENST00000360064.7:c.12871C>T	ENSP00000353174.7:p.Arg4291Cys
ENST00000366574.6:c.12919C>T	ENSP00000355533.2:p.Arg4307Cys
ENST00000609119.1:n.4114C>T
NM_001035.2:c.12919C>T	NP_001026.2:p.Arg4307Cys
XM_006711802.2:c.12973C>T	XP_006711865.1:p.Arg4325Cys
XM_006711803.2:c.12970C>T	XP_006711866.1:p.Arg4324Cys
XM_006711804.2:c.12949C>T	XP_006711867.1:p.Arg4317Cys
XM_006711805.2:c.12943C>T	XP_006711868.1:p.Arg4315Cys
XM_006711806.2:c.12937C>T	XP_006711869.1:p.Arg4313Cys
XM_006711807.2:c.12913C>T	XP_006711870.1:p.Arg4305Cys
XM_006711808.2:c.12736C>T	XP_006711871.1:p.Arg4246Cys
XM_006711810.2:c.12880C>T	XP_006711873.1:p.Arg4294Cys
XM_006711802.3:c.12973C>T	XP_006711865.1:p.Arg4325Cys
XM_006711803.3:c.12970C>T	XP_006711866.1:p.Arg4324Cys
XM_006711804.3:c.12949C>T	XP_006711867.1:p.Arg4317Cys
XM_006711805.3:c.12943C>T	XP_006711868.1:p.Arg4315Cys
XM_006711806.3:c.12937C>T	XP_006711869.1:p.Arg4313Cys
XM_006711807.3:c.12913C>T	XP_006711870.1:p.Arg4305Cys
XM_006711808.3:c.12736C>T	XP_006711871.1:p.Arg4246Cys
XM_006711810.3:c.12880C>T	XP_006711873.1:p.Arg4294Cys
XM_017002028.1:c.12952C>T	XP_016857517.1:p.Arg4318Cys
NM_001035.3:c.12919C>T MANE Select	NP_001026.2:p.Arg4307Cys