Canonical Allele Identifier: CA345412953

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947331G>C (hg19) ; chr1:g.237784031G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784031G>C , CM000663.2:g.237784031G>C	GRCh38
NC_000001.10:g.237947331G>C , CM000663.1:g.237947331G>C	GRCh37
NC_000001.9:g.236013954G>C	NCBI36
NG_008799.2:g.746630G>C
NG_008799.3:g.746848G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3411G>C	ENSP00000499659.2:n.*3411G>C
ENST00000659194.3:c.12307G>C	ENSP00000499653.3:p.Glu4103Gln
ENST00000660292.2:c.12340G>C	ENSP00000499787.2:p.Glu4114Gln
ENST00000659194.2:c.4496G>C
ENST00000366574.7:c.12319G>C MANE Select	ENSP00000355533.2:p.Glu4107Gln
ENST00000659194.1:c.4496G>C
ENST00000660292.1:c.2372G>C
ENST00000360064.7:c.12271G>C	ENSP00000353174.7:p.Glu4091Gln
ENST00000366574.6:c.12319G>C	ENSP00000355533.2:p.Glu4107Gln
ENST00000609119.1:n.3514G>C
NM_001035.2:c.12319G>C	NP_001026.2:p.Glu4107Gln
XM_006711802.2:c.12373G>C	XP_006711865.1:p.Glu4125Gln
XM_006711803.2:c.12370G>C	XP_006711866.1:p.Glu4124Gln
XM_006711804.2:c.12349G>C	XP_006711867.1:p.Glu4117Gln
XM_006711805.2:c.12343G>C	XP_006711868.1:p.Glu4115Gln
XM_006711806.2:c.12337G>C	XP_006711869.1:p.Glu4113Gln
XM_006711807.2:c.12313G>C	XP_006711870.1:p.Glu4105Gln
XM_006711808.2:c.12136G>C	XP_006711871.1:p.Glu4046Gln
XM_006711810.2:c.12280G>C	XP_006711873.1:p.Glu4094Gln
XM_006711802.3:c.12373G>C	XP_006711865.1:p.Glu4125Gln
XM_006711803.3:c.12370G>C	XP_006711866.1:p.Glu4124Gln
XM_006711804.3:c.12349G>C	XP_006711867.1:p.Glu4117Gln
XM_006711805.3:c.12343G>C	XP_006711868.1:p.Glu4115Gln
XM_006711806.3:c.12337G>C	XP_006711869.1:p.Glu4113Gln
XM_006711807.3:c.12313G>C	XP_006711870.1:p.Glu4105Gln
XM_006711808.3:c.12136G>C	XP_006711871.1:p.Glu4046Gln
XM_006711810.3:c.12280G>C	XP_006711873.1:p.Glu4094Gln
XM_017002028.1:c.12352G>C	XP_016857517.1:p.Glu4118Gln
NM_001035.3:c.12319G>C MANE Select	NP_001026.2:p.Glu4107Gln