Canonical Allele Identifier: CA345413439

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947495G>T (hg19) ; chr1:g.237784195G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784195G>T , CM000663.2:g.237784195G>T	GRCh38
NC_000001.10:g.237947495G>T , CM000663.1:g.237947495G>T	GRCh37
NC_000001.9:g.236014118G>T	NCBI36
NG_008799.2:g.746794G>T
NG_008799.3:g.747012G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3575G>T	ENSP00000499659.2:n.*3575G>T
ENST00000659194.3:c.12471G>T	ENSP00000499653.3:p.Glu4157Asp
ENST00000660292.2:c.12504G>T	ENSP00000499787.2:p.Glu4168Asp
ENST00000659194.2:c.4660G>T
ENST00000366574.7:c.12483G>T MANE Select	ENSP00000355533.2:p.Glu4161Asp
ENST00000659194.1:c.4660G>T
ENST00000660292.1:c.2536G>T
ENST00000360064.7:c.12435G>T	ENSP00000353174.7:p.Glu4145Asp
ENST00000366574.6:c.12483G>T	ENSP00000355533.2:p.Glu4161Asp
ENST00000609119.1:n.3678G>T
NM_001035.2:c.12483G>T	NP_001026.2:p.Glu4161Asp
XM_006711802.2:c.12537G>T	XP_006711865.1:p.Glu4179Asp
XM_006711803.2:c.12534G>T	XP_006711866.1:p.Glu4178Asp
XM_006711804.2:c.12513G>T	XP_006711867.1:p.Glu4171Asp
XM_006711805.2:c.12507G>T	XP_006711868.1:p.Glu4169Asp
XM_006711806.2:c.12501G>T	XP_006711869.1:p.Glu4167Asp
XM_006711807.2:c.12477G>T	XP_006711870.1:p.Glu4159Asp
XM_006711808.2:c.12300G>T	XP_006711871.1:p.Glu4100Asp
XM_006711810.2:c.12444G>T	XP_006711873.1:p.Glu4148Asp
XM_006711802.3:c.12537G>T	XP_006711865.1:p.Glu4179Asp
XM_006711803.3:c.12534G>T	XP_006711866.1:p.Glu4178Asp
XM_006711804.3:c.12513G>T	XP_006711867.1:p.Glu4171Asp
XM_006711805.3:c.12507G>T	XP_006711868.1:p.Glu4169Asp
XM_006711806.3:c.12501G>T	XP_006711869.1:p.Glu4167Asp
XM_006711807.3:c.12477G>T	XP_006711870.1:p.Glu4159Asp
XM_006711808.3:c.12300G>T	XP_006711871.1:p.Glu4100Asp
XM_006711810.3:c.12444G>T	XP_006711873.1:p.Glu4148Asp
XM_017002028.1:c.12516G>T	XP_016857517.1:p.Glu4172Asp
NM_001035.3:c.12483G>T MANE Select	NP_001026.2:p.Glu4161Asp