Canonical Allele Identifier: CA345413300

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947461T>G (hg19) ; chr1:g.237784161T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784161T>G , CM000663.2:g.237784161T>G	GRCh38
NC_000001.10:g.237947461T>G , CM000663.1:g.237947461T>G	GRCh37
NC_000001.9:g.236014084T>G	NCBI36
NG_008799.2:g.746760T>G
NG_008799.3:g.746978T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3541T>G	ENSP00000499659.2:n.*3541T>G
ENST00000659194.3:c.12437T>G	ENSP00000499653.3:p.Phe4146Cys
ENST00000660292.2:c.12470T>G	ENSP00000499787.2:p.Phe4157Cys
ENST00000659194.2:c.4626T>G
ENST00000366574.7:c.12449T>G MANE Select	ENSP00000355533.2:p.Phe4150Cys
ENST00000659194.1:c.4626T>G
ENST00000660292.1:c.2502T>G
ENST00000360064.7:c.12401T>G	ENSP00000353174.7:p.Phe4134Cys
ENST00000366574.6:c.12449T>G	ENSP00000355533.2:p.Phe4150Cys
ENST00000609119.1:n.3644T>G
NM_001035.2:c.12449T>G	NP_001026.2:p.Phe4150Cys
XM_006711802.2:c.12503T>G	XP_006711865.1:p.Phe4168Cys
XM_006711803.2:c.12500T>G	XP_006711866.1:p.Phe4167Cys
XM_006711804.2:c.12479T>G	XP_006711867.1:p.Phe4160Cys
XM_006711805.2:c.12473T>G	XP_006711868.1:p.Phe4158Cys
XM_006711806.2:c.12467T>G	XP_006711869.1:p.Phe4156Cys
XM_006711807.2:c.12443T>G	XP_006711870.1:p.Phe4148Cys
XM_006711808.2:c.12266T>G	XP_006711871.1:p.Phe4089Cys
XM_006711810.2:c.12410T>G	XP_006711873.1:p.Phe4137Cys
XM_006711802.3:c.12503T>G	XP_006711865.1:p.Phe4168Cys
XM_006711803.3:c.12500T>G	XP_006711866.1:p.Phe4167Cys
XM_006711804.3:c.12479T>G	XP_006711867.1:p.Phe4160Cys
XM_006711805.3:c.12473T>G	XP_006711868.1:p.Phe4158Cys
XM_006711806.3:c.12467T>G	XP_006711869.1:p.Phe4156Cys
XM_006711807.3:c.12443T>G	XP_006711870.1:p.Phe4148Cys
XM_006711808.3:c.12266T>G	XP_006711871.1:p.Phe4089Cys
XM_006711810.3:c.12410T>G	XP_006711873.1:p.Phe4137Cys
XM_017002028.1:c.12482T>G	XP_016857517.1:p.Phe4161Cys
NM_001035.3:c.12449T>G MANE Select	NP_001026.2:p.Phe4150Cys