Canonical Allele Identifier: CA424032360

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947615G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784315G>A , CM000663.2:g.237784315G>A	GRCh38
NC_000001.10:g.237947615G>A , CM000663.1:g.237947615G>A	GRCh37
NC_000001.9:g.236014238G>A	NCBI36
NG_008799.2:g.746914G>A
NG_008799.3:g.747132G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3695G>A	ENSP00000499659.2:n.*3695G>A
ENST00000659194.3:c.12591G>A	ENSP00000499653.3:p.Gln4197=
ENST00000660292.2:c.12624G>A	ENSP00000499787.2:p.Gln4208=
ENST00000659194.2:c.4780G>A
ENST00000366574.7:c.12603G>A MANE Select	ENSP00000355533.2:p.Gln4201=
ENST00000659194.1:c.4780G>A
ENST00000660292.1:c.2656G>A
ENST00000360064.7:c.12555G>A	ENSP00000353174.7:p.Gln4185=
ENST00000366574.6:c.12603G>A	ENSP00000355533.2:p.Gln4201=
ENST00000609119.1:n.3798G>A
NM_001035.2:c.12603G>A	NP_001026.2:p.Gln4201=
XM_006711802.2:c.12657G>A	XP_006711865.1:p.Gln4219=
XM_006711803.2:c.12654G>A	XP_006711866.1:p.Gln4218=
XM_006711804.2:c.12633G>A	XP_006711867.1:p.Gln4211=
XM_006711805.2:c.12627G>A	XP_006711868.1:p.Gln4209=
XM_006711806.2:c.12621G>A	XP_006711869.1:p.Gln4207=
XM_006711807.2:c.12597G>A	XP_006711870.1:p.Gln4199=
XM_006711808.2:c.12420G>A	XP_006711871.1:p.Gln4140=
XM_006711810.2:c.12564G>A	XP_006711873.1:p.Gln4188=
XM_006711802.3:c.12657G>A	XP_006711865.1:p.Gln4219=
XM_006711803.3:c.12654G>A	XP_006711866.1:p.Gln4218=
XM_006711804.3:c.12633G>A	XP_006711867.1:p.Gln4211=
XM_006711805.3:c.12627G>A	XP_006711868.1:p.Gln4209=
XM_006711806.3:c.12621G>A	XP_006711869.1:p.Gln4207=
XM_006711807.3:c.12597G>A	XP_006711870.1:p.Gln4199=
XM_006711808.3:c.12420G>A	XP_006711871.1:p.Gln4140=
XM_006711810.3:c.12564G>A	XP_006711873.1:p.Gln4188=
XM_017002028.1:c.12636G>A	XP_016857517.1:p.Gln4212=
NM_001035.3:c.12603G>A MANE Select	NP_001026.2:p.Gln4201=