Canonical Allele Identifier: CA345413309

Gene: RYR2

Linked Data

• gnomAD v4: 1-237784163-G-T
• MyVariant Identifiers: chr1:g.237947463G>T (hg19) ; chr1:g.237784163G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784163G>T , CM000663.2:g.237784163G>T	GRCh38
NC_000001.10:g.237947463G>T , CM000663.1:g.237947463G>T	GRCh37
NC_000001.9:g.236014086G>T	NCBI36
NG_008799.2:g.746762G>T
NG_008799.3:g.746980G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3543G>T	ENSP00000499659.2:n.*3543G>T
ENST00000659194.3:c.12439G>T	ENSP00000499653.3:p.Glu4147Ter
ENST00000660292.2:c.12472G>T	ENSP00000499787.2:p.Glu4158Ter
ENST00000659194.2:c.4628G>T
ENST00000366574.7:c.12451G>T MANE Select	ENSP00000355533.2:p.Glu4151Ter
ENST00000659194.1:c.4628G>T
ENST00000660292.1:c.2504G>T
ENST00000360064.7:c.12403G>T	ENSP00000353174.7:p.Glu4135Ter
ENST00000366574.6:c.12451G>T	ENSP00000355533.2:p.Glu4151Ter
ENST00000609119.1:n.3646G>T
NM_001035.2:c.12451G>T	NP_001026.2:p.Glu4151Ter
XM_006711802.2:c.12505G>T	XP_006711865.1:p.Glu4169Ter
XM_006711803.2:c.12502G>T	XP_006711866.1:p.Glu4168Ter
XM_006711804.2:c.12481G>T	XP_006711867.1:p.Glu4161Ter
XM_006711805.2:c.12475G>T	XP_006711868.1:p.Glu4159Ter
XM_006711806.2:c.12469G>T	XP_006711869.1:p.Glu4157Ter
XM_006711807.2:c.12445G>T	XP_006711870.1:p.Glu4149Ter
XM_006711808.2:c.12268G>T	XP_006711871.1:p.Glu4090Ter
XM_006711810.2:c.12412G>T	XP_006711873.1:p.Glu4138Ter
XM_006711802.3:c.12505G>T	XP_006711865.1:p.Glu4169Ter
XM_006711803.3:c.12502G>T	XP_006711866.1:p.Glu4168Ter
XM_006711804.3:c.12481G>T	XP_006711867.1:p.Glu4161Ter
XM_006711805.3:c.12475G>T	XP_006711868.1:p.Glu4159Ter
XM_006711806.3:c.12469G>T	XP_006711869.1:p.Glu4157Ter
XM_006711807.3:c.12445G>T	XP_006711870.1:p.Glu4149Ter
XM_006711808.3:c.12268G>T	XP_006711871.1:p.Glu4090Ter
XM_006711810.3:c.12412G>T	XP_006711873.1:p.Glu4138Ter
XM_017002028.1:c.12484G>T	XP_016857517.1:p.Glu4162Ter
NM_001035.3:c.12451G>T MANE Select	NP_001026.2:p.Glu4151Ter