Canonical Allele Identifier: CA345413243

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947446T>G (hg19) ; chr1:g.237784146T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784146T>G , CM000663.2:g.237784146T>G	GRCh38
NC_000001.10:g.237947446T>G , CM000663.1:g.237947446T>G	GRCh37
NC_000001.9:g.236014069T>G	NCBI36
NG_008799.2:g.746745T>G
NG_008799.3:g.746963T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3526T>G	ENSP00000499659.2:n.*3526T>G
ENST00000659194.3:c.12422T>G	ENSP00000499653.3:p.Ile4141Ser
ENST00000660292.2:c.12455T>G	ENSP00000499787.2:p.Ile4152Ser
ENST00000659194.2:c.4611T>G
ENST00000366574.7:c.12434T>G MANE Select	ENSP00000355533.2:p.Ile4145Ser
ENST00000659194.1:c.4611T>G
ENST00000660292.1:c.2487T>G
ENST00000360064.7:c.12386T>G	ENSP00000353174.7:p.Ile4129Ser
ENST00000366574.6:c.12434T>G	ENSP00000355533.2:p.Ile4145Ser
ENST00000609119.1:n.3629T>G
NM_001035.2:c.12434T>G	NP_001026.2:p.Ile4145Ser
XM_006711802.2:c.12488T>G	XP_006711865.1:p.Ile4163Ser
XM_006711803.2:c.12485T>G	XP_006711866.1:p.Ile4162Ser
XM_006711804.2:c.12464T>G	XP_006711867.1:p.Ile4155Ser
XM_006711805.2:c.12458T>G	XP_006711868.1:p.Ile4153Ser
XM_006711806.2:c.12452T>G	XP_006711869.1:p.Ile4151Ser
XM_006711807.2:c.12428T>G	XP_006711870.1:p.Ile4143Ser
XM_006711808.2:c.12251T>G	XP_006711871.1:p.Ile4084Ser
XM_006711810.2:c.12395T>G	XP_006711873.1:p.Ile4132Ser
XM_006711802.3:c.12488T>G	XP_006711865.1:p.Ile4163Ser
XM_006711803.3:c.12485T>G	XP_006711866.1:p.Ile4162Ser
XM_006711804.3:c.12464T>G	XP_006711867.1:p.Ile4155Ser
XM_006711805.3:c.12458T>G	XP_006711868.1:p.Ile4153Ser
XM_006711806.3:c.12452T>G	XP_006711869.1:p.Ile4151Ser
XM_006711807.3:c.12428T>G	XP_006711870.1:p.Ile4143Ser
XM_006711808.3:c.12251T>G	XP_006711871.1:p.Ile4084Ser
XM_006711810.3:c.12395T>G	XP_006711873.1:p.Ile4132Ser
XM_017002028.1:c.12467T>G	XP_016857517.1:p.Ile4156Ser
NM_001035.3:c.12434T>G MANE Select	NP_001026.2:p.Ile4145Ser