Canonical Allele Identifier: CA345413329

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947468C>G (hg19) ; chr1:g.237784168C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784168C>G , CM000663.2:g.237784168C>G	GRCh38
NC_000001.10:g.237947468C>G , CM000663.1:g.237947468C>G	GRCh37
NC_000001.9:g.236014091C>G	NCBI36
NG_008799.2:g.746767C>G
NG_008799.3:g.746985C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3548C>G	ENSP00000499659.2:n.*3548C>G
ENST00000659194.3:c.12444C>G	ENSP00000499653.3:p.Ile4148Met
ENST00000660292.2:c.12477C>G	ENSP00000499787.2:p.Ile4159Met
ENST00000659194.2:c.4633C>G
ENST00000366574.7:c.12456C>G MANE Select	ENSP00000355533.2:p.Ile4152Met
ENST00000659194.1:c.4633C>G
ENST00000660292.1:c.2509C>G
ENST00000360064.7:c.12408C>G	ENSP00000353174.7:p.Ile4136Met
ENST00000366574.6:c.12456C>G	ENSP00000355533.2:p.Ile4152Met
ENST00000609119.1:n.3651C>G
NM_001035.2:c.12456C>G	NP_001026.2:p.Ile4152Met
XM_006711802.2:c.12510C>G	XP_006711865.1:p.Ile4170Met
XM_006711803.2:c.12507C>G	XP_006711866.1:p.Ile4169Met
XM_006711804.2:c.12486C>G	XP_006711867.1:p.Ile4162Met
XM_006711805.2:c.12480C>G	XP_006711868.1:p.Ile4160Met
XM_006711806.2:c.12474C>G	XP_006711869.1:p.Ile4158Met
XM_006711807.2:c.12450C>G	XP_006711870.1:p.Ile4150Met
XM_006711808.2:c.12273C>G	XP_006711871.1:p.Ile4091Met
XM_006711810.2:c.12417C>G	XP_006711873.1:p.Ile4139Met
XM_006711802.3:c.12510C>G	XP_006711865.1:p.Ile4170Met
XM_006711803.3:c.12507C>G	XP_006711866.1:p.Ile4169Met
XM_006711804.3:c.12486C>G	XP_006711867.1:p.Ile4162Met
XM_006711805.3:c.12480C>G	XP_006711868.1:p.Ile4160Met
XM_006711806.3:c.12474C>G	XP_006711869.1:p.Ile4158Met
XM_006711807.3:c.12450C>G	XP_006711870.1:p.Ile4150Met
XM_006711808.3:c.12273C>G	XP_006711871.1:p.Ile4091Met
XM_006711810.3:c.12417C>G	XP_006711873.1:p.Ile4139Met
XM_017002028.1:c.12489C>G	XP_016857517.1:p.Ile4163Met
NM_001035.3:c.12456C>G MANE Select	NP_001026.2:p.Ile4152Met