Canonical Allele Identifier: CA085185

Gene: RYR2

Linked Data

• dbSNP Id: rs780464893
• ExAC: 1:237947474 G / A
• gnomAD v2: 1-237947474-G-A
• gnomAD v4: 1-237784174-G-A
• MyVariant Identifiers: chr1:g.237947474G>A (hg19) ; chr1:g.237784174G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784174G>A , CM000663.2:g.237784174G>A	GRCh38
NC_000001.10:g.237947474G>A , CM000663.1:g.237947474G>A	GRCh37
NC_000001.9:g.236014097G>A	NCBI36
NG_008799.2:g.746773G>A
NG_008799.3:g.746991G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3554G>A	ENSP00000499659.2:n.*3554G>A
ENST00000659194.3:c.12450G>A	ENSP00000499653.3:p.Glu4150=
ENST00000660292.2:c.12483G>A	ENSP00000499787.2:p.Glu4161=
ENST00000659194.2:c.4639G>A
ENST00000366574.7:c.12462G>A MANE Select	ENSP00000355533.2:p.Glu4154=
ENST00000659194.1:c.4639G>A
ENST00000660292.1:c.2515G>A
ENST00000360064.7:c.12414G>A	ENSP00000353174.7:p.Glu4138=
ENST00000366574.6:c.12462G>A	ENSP00000355533.2:p.Glu4154=
ENST00000609119.1:n.3657G>A
NM_001035.2:c.12462G>A	NP_001026.2:p.Glu4154=
XM_006711802.2:c.12516G>A	XP_006711865.1:p.Glu4172=
XM_006711803.2:c.12513G>A	XP_006711866.1:p.Glu4171=
XM_006711804.2:c.12492G>A	XP_006711867.1:p.Glu4164=
XM_006711805.2:c.12486G>A	XP_006711868.1:p.Glu4162=
XM_006711806.2:c.12480G>A	XP_006711869.1:p.Glu4160=
XM_006711807.2:c.12456G>A	XP_006711870.1:p.Glu4152=
XM_006711808.2:c.12279G>A	XP_006711871.1:p.Glu4093=
XM_006711810.2:c.12423G>A	XP_006711873.1:p.Glu4141=
XM_006711802.3:c.12516G>A	XP_006711865.1:p.Glu4172=
XM_006711803.3:c.12513G>A	XP_006711866.1:p.Glu4171=
XM_006711804.3:c.12492G>A	XP_006711867.1:p.Glu4164=
XM_006711805.3:c.12486G>A	XP_006711868.1:p.Glu4162=
XM_006711806.3:c.12480G>A	XP_006711869.1:p.Glu4160=
XM_006711807.3:c.12456G>A	XP_006711870.1:p.Glu4152=
XM_006711808.3:c.12279G>A	XP_006711871.1:p.Glu4093=
XM_006711810.3:c.12423G>A	XP_006711873.1:p.Glu4141=
XM_017002028.1:c.12495G>A	XP_016857517.1:p.Glu4165=
NM_001035.3:c.12462G>A MANE Select	NP_001026.2:p.Glu4154=