Canonical Allele Identifier: CA084638

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237732072A>C , CM000663.2:g.237732072A>C	GRCh38
NC_000001.10:g.237895372A>C , CM000663.1:g.237895372A>C	GRCh37
NC_000001.9:g.235961995A>C	NCBI36
NG_008799.2:g.694671A>C
NG_008799.3:g.694889A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*1997A>C	ENSP00000499659.2:n.*1997A>C
ENST00000659194.3:c.10926A>C	ENSP00000499653.3:p.Glu3642Asp
ENST00000660292.2:c.10926A>C	ENSP00000499787.2:p.Glu3642Asp
ENST00000659194.2:c.3115A>C
ENST00000366574.7:c.10962A>C MANE Select	ENSP00000355533.2:p.Glu3654Asp
ENST00000659194.1:c.3115A>C
ENST00000660292.1:c.958A>C
ENST00000661330.1:c.769A>C
ENST00000360064.7:c.10914A>C	ENSP00000353174.7:p.Glu3638Asp
ENST00000366574.6:c.10962A>C	ENSP00000355533.2:p.Glu3654Asp
ENST00000609119.1:n.2100A>C
NM_001035.2:c.10962A>C	NP_001026.2:p.Glu3654Asp
XM_006711802.2:c.10992A>C	XP_006711865.1:p.Glu3664Asp
XM_006711803.2:c.10989A>C	XP_006711866.1:p.Glu3663Asp
XM_006711804.2:c.10992A>C	XP_006711867.1:p.Glu3664Asp
XM_006711805.2:c.10962A>C	XP_006711868.1:p.Glu3654Asp
XM_006711806.2:c.10956A>C	XP_006711869.1:p.Glu3652Asp
XM_006711807.2:c.10956A>C	XP_006711870.1:p.Glu3652Asp
XM_006711808.2:c.10755A>C	XP_006711871.1:p.Glu3585Asp
XM_006711810.2:c.10923A>C	XP_006711873.1:p.Glu3641Asp
XM_006711802.3:c.10992A>C	XP_006711865.1:p.Glu3664Asp
XM_006711803.3:c.10989A>C	XP_006711866.1:p.Glu3663Asp
XM_006711804.3:c.10992A>C	XP_006711867.1:p.Glu3664Asp
XM_006711805.3:c.10962A>C	XP_006711868.1:p.Glu3654Asp
XM_006711806.3:c.10956A>C	XP_006711869.1:p.Glu3652Asp
XM_006711807.3:c.10956A>C	XP_006711870.1:p.Glu3652Asp
XM_006711808.3:c.10755A>C	XP_006711871.1:p.Glu3585Asp
XM_006711810.3:c.10923A>C	XP_006711873.1:p.Glu3641Asp
XM_017002028.1:c.10971A>C	XP_016857517.1:p.Glu3657Asp
NM_001035.3:c.10962A>C MANE Select	NP_001026.2:p.Glu3654Asp