Canonical Allele Identifier: CA345413432

Gene: RYR2

Linked Data

• dbSNP Id: rs1695361671
• MyVariant Identifiers: chr1:g.237947493G>C (hg19) ; chr1:g.237784193G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784193G>C , CM000663.2:g.237784193G>C	GRCh38
NC_000001.10:g.237947493G>C , CM000663.1:g.237947493G>C	GRCh37
NC_000001.9:g.236014116G>C	NCBI36
NG_008799.2:g.746792G>C
NG_008799.3:g.747010G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3573G>C	ENSP00000499659.2:n.*3573G>C
ENST00000659194.3:c.12469G>C	ENSP00000499653.3:p.Glu4157Gln
ENST00000660292.2:c.12502G>C	ENSP00000499787.2:p.Glu4168Gln
ENST00000659194.2:c.4658G>C
ENST00000366574.7:c.12481G>C MANE Select	ENSP00000355533.2:p.Glu4161Gln
ENST00000659194.1:c.4658G>C
ENST00000660292.1:c.2534G>C
ENST00000360064.7:c.12433G>C	ENSP00000353174.7:p.Glu4145Gln
ENST00000366574.6:c.12481G>C	ENSP00000355533.2:p.Glu4161Gln
ENST00000609119.1:n.3676G>C
NM_001035.2:c.12481G>C	NP_001026.2:p.Glu4161Gln
XM_006711802.2:c.12535G>C	XP_006711865.1:p.Glu4179Gln
XM_006711803.2:c.12532G>C	XP_006711866.1:p.Glu4178Gln
XM_006711804.2:c.12511G>C	XP_006711867.1:p.Glu4171Gln
XM_006711805.2:c.12505G>C	XP_006711868.1:p.Glu4169Gln
XM_006711806.2:c.12499G>C	XP_006711869.1:p.Glu4167Gln
XM_006711807.2:c.12475G>C	XP_006711870.1:p.Glu4159Gln
XM_006711808.2:c.12298G>C	XP_006711871.1:p.Glu4100Gln
XM_006711810.2:c.12442G>C	XP_006711873.1:p.Glu4148Gln
XM_006711802.3:c.12535G>C	XP_006711865.1:p.Glu4179Gln
XM_006711803.3:c.12532G>C	XP_006711866.1:p.Glu4178Gln
XM_006711804.3:c.12511G>C	XP_006711867.1:p.Glu4171Gln
XM_006711805.3:c.12505G>C	XP_006711868.1:p.Glu4169Gln
XM_006711806.3:c.12499G>C	XP_006711869.1:p.Glu4167Gln
XM_006711807.3:c.12475G>C	XP_006711870.1:p.Glu4159Gln
XM_006711808.3:c.12298G>C	XP_006711871.1:p.Glu4100Gln
XM_006711810.3:c.12442G>C	XP_006711873.1:p.Glu4148Gln
XM_017002028.1:c.12514G>C	XP_016857517.1:p.Glu4172Gln
NM_001035.3:c.12481G>C MANE Select	NP_001026.2:p.Glu4161Gln