Canonical Allele Identifier: CA345413337

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947469A>T (hg19) ; chr1:g.237784169A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784169A>T , CM000663.2:g.237784169A>T	GRCh38
NC_000001.10:g.237947469A>T , CM000663.1:g.237947469A>T	GRCh37
NC_000001.9:g.236014092A>T	NCBI36
NG_008799.2:g.746768A>T
NG_008799.3:g.746986A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3549A>T	ENSP00000499659.2:n.*3549A>T
ENST00000659194.3:c.12445A>T	ENSP00000499653.3:p.Ser4149Cys
ENST00000660292.2:c.12478A>T	ENSP00000499787.2:p.Ser4160Cys
ENST00000659194.2:c.4634A>T
ENST00000366574.7:c.12457A>T MANE Select	ENSP00000355533.2:p.Ser4153Cys
ENST00000659194.1:c.4634A>T
ENST00000660292.1:c.2510A>T
ENST00000360064.7:c.12409A>T	ENSP00000353174.7:p.Ser4137Cys
ENST00000366574.6:c.12457A>T	ENSP00000355533.2:p.Ser4153Cys
ENST00000609119.1:n.3652A>T
NM_001035.2:c.12457A>T	NP_001026.2:p.Ser4153Cys
XM_006711802.2:c.12511A>T	XP_006711865.1:p.Ser4171Cys
XM_006711803.2:c.12508A>T	XP_006711866.1:p.Ser4170Cys
XM_006711804.2:c.12487A>T	XP_006711867.1:p.Ser4163Cys
XM_006711805.2:c.12481A>T	XP_006711868.1:p.Ser4161Cys
XM_006711806.2:c.12475A>T	XP_006711869.1:p.Ser4159Cys
XM_006711807.2:c.12451A>T	XP_006711870.1:p.Ser4151Cys
XM_006711808.2:c.12274A>T	XP_006711871.1:p.Ser4092Cys
XM_006711810.2:c.12418A>T	XP_006711873.1:p.Ser4140Cys
XM_006711802.3:c.12511A>T	XP_006711865.1:p.Ser4171Cys
XM_006711803.3:c.12508A>T	XP_006711866.1:p.Ser4170Cys
XM_006711804.3:c.12487A>T	XP_006711867.1:p.Ser4163Cys
XM_006711805.3:c.12481A>T	XP_006711868.1:p.Ser4161Cys
XM_006711806.3:c.12475A>T	XP_006711869.1:p.Ser4159Cys
XM_006711807.3:c.12451A>T	XP_006711870.1:p.Ser4151Cys
XM_006711808.3:c.12274A>T	XP_006711871.1:p.Ser4092Cys
XM_006711810.3:c.12418A>T	XP_006711873.1:p.Ser4140Cys
XM_017002028.1:c.12490A>T	XP_016857517.1:p.Ser4164Cys
NM_001035.3:c.12457A>T MANE Select	NP_001026.2:p.Ser4153Cys