Canonical Allele Identifier: CA345413486

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947513G>C (hg19) ; chr1:g.237784213G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784213G>C , CM000663.2:g.237784213G>C	GRCh38
NC_000001.10:g.237947513G>C , CM000663.1:g.237947513G>C	GRCh37
NC_000001.9:g.236014136G>C	NCBI36
NG_008799.2:g.746812G>C
NG_008799.3:g.747030G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3593G>C	ENSP00000499659.2:n.*3593G>C
ENST00000659194.3:c.12489G>C	ENSP00000499653.3:p.Glu4163Asp
ENST00000660292.2:c.12522G>C	ENSP00000499787.2:p.Glu4174Asp
ENST00000659194.2:c.4678G>C
ENST00000366574.7:c.12501G>C MANE Select	ENSP00000355533.2:p.Glu4167Asp
ENST00000659194.1:c.4678G>C
ENST00000660292.1:c.2554G>C
ENST00000360064.7:c.12453G>C	ENSP00000353174.7:p.Glu4151Asp
ENST00000366574.6:c.12501G>C	ENSP00000355533.2:p.Glu4167Asp
ENST00000609119.1:n.3696G>C
NM_001035.2:c.12501G>C	NP_001026.2:p.Glu4167Asp
XM_006711802.2:c.12555G>C	XP_006711865.1:p.Glu4185Asp
XM_006711803.2:c.12552G>C	XP_006711866.1:p.Glu4184Asp
XM_006711804.2:c.12531G>C	XP_006711867.1:p.Glu4177Asp
XM_006711805.2:c.12525G>C	XP_006711868.1:p.Glu4175Asp
XM_006711806.2:c.12519G>C	XP_006711869.1:p.Glu4173Asp
XM_006711807.2:c.12495G>C	XP_006711870.1:p.Glu4165Asp
XM_006711808.2:c.12318G>C	XP_006711871.1:p.Glu4106Asp
XM_006711810.2:c.12462G>C	XP_006711873.1:p.Glu4154Asp
XM_006711802.3:c.12555G>C	XP_006711865.1:p.Glu4185Asp
XM_006711803.3:c.12552G>C	XP_006711866.1:p.Glu4184Asp
XM_006711804.3:c.12531G>C	XP_006711867.1:p.Glu4177Asp
XM_006711805.3:c.12525G>C	XP_006711868.1:p.Glu4175Asp
XM_006711806.3:c.12519G>C	XP_006711869.1:p.Glu4173Asp
XM_006711807.3:c.12495G>C	XP_006711870.1:p.Glu4165Asp
XM_006711808.3:c.12318G>C	XP_006711871.1:p.Glu4106Asp
XM_006711810.3:c.12462G>C	XP_006711873.1:p.Glu4154Asp
XM_017002028.1:c.12534G>C	XP_016857517.1:p.Glu4178Asp
NM_001035.3:c.12501G>C MANE Select	NP_001026.2:p.Glu4167Asp