Canonical Allele Identifier: CA424032250

Gene: RYR2

Linked Data

• gnomAD v4: 1-237784198-G-A
• MyVariant Identifiers: chr1:g.237947498G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784198G>A , CM000663.2:g.237784198G>A	GRCh38
NC_000001.10:g.237947498G>A , CM000663.1:g.237947498G>A	GRCh37
NC_000001.9:g.236014121G>A	NCBI36
NG_008799.2:g.746797G>A
NG_008799.3:g.747015G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3578G>A	ENSP00000499659.2:n.*3578G>A
ENST00000659194.3:c.12474G>A	ENSP00000499653.3:p.Lys4158=
ENST00000660292.2:c.12507G>A	ENSP00000499787.2:p.Lys4169=
ENST00000659194.2:c.4663G>A
ENST00000366574.7:c.12486G>A MANE Select	ENSP00000355533.2:p.Lys4162=
ENST00000659194.1:c.4663G>A
ENST00000660292.1:c.2539G>A
ENST00000360064.7:c.12438G>A	ENSP00000353174.7:p.Lys4146=
ENST00000366574.6:c.12486G>A	ENSP00000355533.2:p.Lys4162=
ENST00000609119.1:n.3681G>A
NM_001035.2:c.12486G>A	NP_001026.2:p.Lys4162=
XM_006711802.2:c.12540G>A	XP_006711865.1:p.Lys4180=
XM_006711803.2:c.12537G>A	XP_006711866.1:p.Lys4179=
XM_006711804.2:c.12516G>A	XP_006711867.1:p.Lys4172=
XM_006711805.2:c.12510G>A	XP_006711868.1:p.Lys4170=
XM_006711806.2:c.12504G>A	XP_006711869.1:p.Lys4168=
XM_006711807.2:c.12480G>A	XP_006711870.1:p.Lys4160=
XM_006711808.2:c.12303G>A	XP_006711871.1:p.Lys4101=
XM_006711810.2:c.12447G>A	XP_006711873.1:p.Lys4149=
XM_006711802.3:c.12540G>A	XP_006711865.1:p.Lys4180=
XM_006711803.3:c.12537G>A	XP_006711866.1:p.Lys4179=
XM_006711804.3:c.12516G>A	XP_006711867.1:p.Lys4172=
XM_006711805.3:c.12510G>A	XP_006711868.1:p.Lys4170=
XM_006711806.3:c.12504G>A	XP_006711869.1:p.Lys4168=
XM_006711807.3:c.12480G>A	XP_006711870.1:p.Lys4160=
XM_006711808.3:c.12303G>A	XP_006711871.1:p.Lys4101=
XM_006711810.3:c.12447G>A	XP_006711873.1:p.Lys4149=
XM_017002028.1:c.12519G>A	XP_016857517.1:p.Lys4173=
NM_001035.3:c.12486G>A MANE Select	NP_001026.2:p.Lys4162=