Canonical Allele Identifier: CA345413390

Gene: RYR2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3558A>T	ENSP00000499659.2:n.*3558A>T
ENST00000659194.3:c.12454A>T	ENSP00000499653.3:p.Ser4152Cys
ENST00000660292.2:c.12487A>T	ENSP00000499787.2:p.Ser4163Cys
ENST00000659194.2:c.4643A>T
ENST00000366574.7:c.12466A>T MANE Select	ENSP00000355533.2:p.Ser4156Cys
ENST00000659194.1:c.4643A>T
ENST00000660292.1:c.2519A>T
ENST00000360064.7:c.12418A>T	ENSP00000353174.7:p.Ser4140Cys
ENST00000366574.6:c.12466A>T	ENSP00000355533.2:p.Ser4156Cys
ENST00000609119.1:n.3661A>T
NM_001035.2:c.12466A>T	NP_001026.2:p.Ser4156Cys
XM_006711802.2:c.12520A>T	XP_006711865.1:p.Ser4174Cys
XM_006711803.2:c.12517A>T	XP_006711866.1:p.Ser4173Cys
XM_006711804.2:c.12496A>T	XP_006711867.1:p.Ser4166Cys
XM_006711805.2:c.12490A>T	XP_006711868.1:p.Ser4164Cys
XM_006711806.2:c.12484A>T	XP_006711869.1:p.Ser4162Cys
XM_006711807.2:c.12460A>T	XP_006711870.1:p.Ser4154Cys
XM_006711808.2:c.12283A>T	XP_006711871.1:p.Ser4095Cys
XM_006711810.2:c.12427A>T	XP_006711873.1:p.Ser4143Cys
XM_006711802.3:c.12520A>T	XP_006711865.1:p.Ser4174Cys
XM_006711803.3:c.12517A>T	XP_006711866.1:p.Ser4173Cys
XM_006711804.3:c.12496A>T	XP_006711867.1:p.Ser4166Cys
XM_006711805.3:c.12490A>T	XP_006711868.1:p.Ser4164Cys
XM_006711806.3:c.12484A>T	XP_006711869.1:p.Ser4162Cys
XM_006711807.3:c.12460A>T	XP_006711870.1:p.Ser4154Cys
XM_006711808.3:c.12283A>T	XP_006711871.1:p.Ser4095Cys
XM_006711810.3:c.12427A>T	XP_006711873.1:p.Ser4143Cys
XM_017002028.1:c.12499A>T	XP_016857517.1:p.Ser4167Cys
NM_001035.3:c.12466A>T MANE Select	NP_001026.2:p.Ser4156Cys