Canonical Allele Identifier: CA345413170

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947426C>G (hg19) ; chr1:g.237784126C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784126C>G , CM000663.2:g.237784126C>G	GRCh38
NC_000001.10:g.237947426C>G , CM000663.1:g.237947426C>G	GRCh37
NC_000001.9:g.236014049C>G	NCBI36
NG_008799.2:g.746725C>G
NG_008799.3:g.746943C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3506C>G	ENSP00000499659.2:n.*3506C>G
ENST00000659194.3:c.12402C>G	ENSP00000499653.3:p.Ile4134Met
ENST00000660292.2:c.12435C>G	ENSP00000499787.2:p.Ile4145Met
ENST00000659194.2:c.4591C>G
ENST00000366574.7:c.12414C>G MANE Select	ENSP00000355533.2:p.Ile4138Met
ENST00000659194.1:c.4591C>G
ENST00000660292.1:c.2467C>G
ENST00000360064.7:c.12366C>G	ENSP00000353174.7:p.Ile4122Met
ENST00000366574.6:c.12414C>G	ENSP00000355533.2:p.Ile4138Met
ENST00000609119.1:n.3609C>G
NM_001035.2:c.12414C>G	NP_001026.2:p.Ile4138Met
XM_006711802.2:c.12468C>G	XP_006711865.1:p.Ile4156Met
XM_006711803.2:c.12465C>G	XP_006711866.1:p.Ile4155Met
XM_006711804.2:c.12444C>G	XP_006711867.1:p.Ile4148Met
XM_006711805.2:c.12438C>G	XP_006711868.1:p.Ile4146Met
XM_006711806.2:c.12432C>G	XP_006711869.1:p.Ile4144Met
XM_006711807.2:c.12408C>G	XP_006711870.1:p.Ile4136Met
XM_006711808.2:c.12231C>G	XP_006711871.1:p.Ile4077Met
XM_006711810.2:c.12375C>G	XP_006711873.1:p.Ile4125Met
XM_006711802.3:c.12468C>G	XP_006711865.1:p.Ile4156Met
XM_006711803.3:c.12465C>G	XP_006711866.1:p.Ile4155Met
XM_006711804.3:c.12444C>G	XP_006711867.1:p.Ile4148Met
XM_006711805.3:c.12438C>G	XP_006711868.1:p.Ile4146Met
XM_006711806.3:c.12432C>G	XP_006711869.1:p.Ile4144Met
XM_006711807.3:c.12408C>G	XP_006711870.1:p.Ile4136Met
XM_006711808.3:c.12231C>G	XP_006711871.1:p.Ile4077Met
XM_006711810.3:c.12375C>G	XP_006711873.1:p.Ile4125Met
XM_017002028.1:c.12447C>G	XP_016857517.1:p.Ile4149Met
NM_001035.3:c.12414C>G MANE Select	NP_001026.2:p.Ile4138Met