Canonical Allele Identifier: CA345413388

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947478A>G (hg19) ; chr1:g.237784178A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784178A>G , CM000663.2:g.237784178A>G	GRCh38
NC_000001.10:g.237947478A>G , CM000663.1:g.237947478A>G	GRCh37
NC_000001.9:g.236014101A>G	NCBI36
NG_008799.2:g.746777A>G
NG_008799.3:g.746995A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3558A>G	ENSP00000499659.2:n.*3558A>G
ENST00000659194.3:c.12454A>G	ENSP00000499653.3:p.Ser4152Gly
ENST00000660292.2:c.12487A>G	ENSP00000499787.2:p.Ser4163Gly
ENST00000659194.2:c.4643A>G
ENST00000366574.7:c.12466A>G MANE Select	ENSP00000355533.2:p.Ser4156Gly
ENST00000659194.1:c.4643A>G
ENST00000660292.1:c.2519A>G
ENST00000360064.7:c.12418A>G	ENSP00000353174.7:p.Ser4140Gly
ENST00000366574.6:c.12466A>G	ENSP00000355533.2:p.Ser4156Gly
ENST00000609119.1:n.3661A>G
NM_001035.2:c.12466A>G	NP_001026.2:p.Ser4156Gly
XM_006711802.2:c.12520A>G	XP_006711865.1:p.Ser4174Gly
XM_006711803.2:c.12517A>G	XP_006711866.1:p.Ser4173Gly
XM_006711804.2:c.12496A>G	XP_006711867.1:p.Ser4166Gly
XM_006711805.2:c.12490A>G	XP_006711868.1:p.Ser4164Gly
XM_006711806.2:c.12484A>G	XP_006711869.1:p.Ser4162Gly
XM_006711807.2:c.12460A>G	XP_006711870.1:p.Ser4154Gly
XM_006711808.2:c.12283A>G	XP_006711871.1:p.Ser4095Gly
XM_006711810.2:c.12427A>G	XP_006711873.1:p.Ser4143Gly
XM_006711802.3:c.12520A>G	XP_006711865.1:p.Ser4174Gly
XM_006711803.3:c.12517A>G	XP_006711866.1:p.Ser4173Gly
XM_006711804.3:c.12496A>G	XP_006711867.1:p.Ser4166Gly
XM_006711805.3:c.12490A>G	XP_006711868.1:p.Ser4164Gly
XM_006711806.3:c.12484A>G	XP_006711869.1:p.Ser4162Gly
XM_006711807.3:c.12460A>G	XP_006711870.1:p.Ser4154Gly
XM_006711808.3:c.12283A>G	XP_006711871.1:p.Ser4095Gly
XM_006711810.3:c.12427A>G	XP_006711873.1:p.Ser4143Gly
XM_017002028.1:c.12499A>G	XP_016857517.1:p.Ser4167Gly
NM_001035.3:c.12466A>G MANE Select	NP_001026.2:p.Ser4156Gly