Canonical Allele Identifier: CA345422692

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237806159A>G , CM000663.2:g.237806159A>G	GRCh38
NC_000001.10:g.237969459A>G , CM000663.1:g.237969459A>G	GRCh37
NC_000001.9:g.236036082A>G	NCBI36
NG_008799.2:g.768758A>G
NG_008799.3:g.768976A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.14174A>G MANE Select	NP_001026.2:p.Tyr4725Cys
ENST00000366574.7:c.14174A>G MANE Select	ENSP00000355533.2:p.Tyr4725Cys
NM_001035.2:c.14174A>G	NP_001026.2:p.Tyr4725Cys
ENST00000360064.7:c.14123A>G	ENSP00000353174.7:p.Tyr4708Cys
ENST00000366574.6:c.14174A>G	ENSP00000355533.2:p.Tyr4725Cys
ENST00000608590.5:n.685A>G
ENST00000609119.2:c.*5266A>G	ENSP00000499659.2:n.*5266A>G
ENST00000659194.2:c.6345A>G
ENST00000659194.3:c.14156A>G	ENSP00000499653.3:p.Tyr4719Cys
ENST00000660292.2:c.14195A>G	ENSP00000499787.2:p.Tyr4732Cys
XM_006711802.2:c.14228A>G	XP_006711865.1:p.Tyr4743Cys
XM_006711802.3:c.14228A>G	XP_006711865.1:p.Tyr4743Cys
XM_006711803.2:c.14225A>G	XP_006711866.1:p.Tyr4742Cys
XM_006711803.3:c.14225A>G	XP_006711866.1:p.Tyr4742Cys
XM_006711804.2:c.14204A>G	XP_006711867.1:p.Tyr4735Cys
XM_006711804.3:c.14204A>G	XP_006711867.1:p.Tyr4735Cys
XM_006711805.2:c.14198A>G	XP_006711868.1:p.Tyr4733Cys
XM_006711805.3:c.14198A>G	XP_006711868.1:p.Tyr4733Cys
XM_006711806.2:c.14192A>G	XP_006711869.1:p.Tyr4731Cys
XM_006711806.3:c.14192A>G	XP_006711869.1:p.Tyr4731Cys
XM_006711807.2:c.14168A>G	XP_006711870.1:p.Tyr4723Cys
XM_006711807.3:c.14168A>G	XP_006711870.1:p.Tyr4723Cys
XM_006711808.2:c.13991A>G	XP_006711871.1:p.Tyr4664Cys
XM_006711808.3:c.13991A>G	XP_006711871.1:p.Tyr4664Cys
XM_006711810.2:c.14135A>G	XP_006711873.1:p.Tyr4712Cys
XM_006711810.3:c.14135A>G	XP_006711873.1:p.Tyr4712Cys
XM_017002028.1:c.14207A>G	XP_016857517.1:p.Tyr4736Cys