Canonical Allele Identifier: CA345423040

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237806211C>G , CM000663.2:g.237806211C>G	GRCh38
NC_000001.10:g.237969511C>G , CM000663.1:g.237969511C>G	GRCh37
NC_000001.9:g.236036134C>G	NCBI36
NG_008799.2:g.768810C>G
NG_008799.3:g.769028C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.14226C>G MANE Select	NP_001026.2:p.His4742Gln
ENST00000366574.7:c.14226C>G MANE Select	ENSP00000355533.2:p.His4742Gln
NM_001035.2:c.14226C>G	NP_001026.2:p.His4742Gln
ENST00000360064.7:c.14175C>G	ENSP00000353174.7:p.His4725Gln
ENST00000366574.6:c.14226C>G	ENSP00000355533.2:p.His4742Gln
ENST00000608590.5:n.737C>G
ENST00000609119.2:c.*5318C>G	ENSP00000499659.2:n.*5318C>G
ENST00000659194.2:c.6397C>G
ENST00000659194.3:c.14208C>G	ENSP00000499653.3:p.His4736Gln
ENST00000660292.2:c.14247C>G	ENSP00000499787.2:p.His4749Gln
XM_006711802.2:c.14280C>G	XP_006711865.1:p.His4760Gln
XM_006711802.3:c.14280C>G	XP_006711865.1:p.His4760Gln
XM_006711803.2:c.14277C>G	XP_006711866.1:p.His4759Gln
XM_006711803.3:c.14277C>G	XP_006711866.1:p.His4759Gln
XM_006711804.2:c.14256C>G	XP_006711867.1:p.His4752Gln
XM_006711804.3:c.14256C>G	XP_006711867.1:p.His4752Gln
XM_006711805.2:c.14250C>G	XP_006711868.1:p.His4750Gln
XM_006711805.3:c.14250C>G	XP_006711868.1:p.His4750Gln
XM_006711806.2:c.14244C>G	XP_006711869.1:p.His4748Gln
XM_006711806.3:c.14244C>G	XP_006711869.1:p.His4748Gln
XM_006711807.2:c.14220C>G	XP_006711870.1:p.His4740Gln
XM_006711807.3:c.14220C>G	XP_006711870.1:p.His4740Gln
XM_006711808.2:c.14043C>G	XP_006711871.1:p.His4681Gln
XM_006711808.3:c.14043C>G	XP_006711871.1:p.His4681Gln
XM_006711810.2:c.14187C>G	XP_006711873.1:p.His4729Gln
XM_006711810.3:c.14187C>G	XP_006711873.1:p.His4729Gln
XM_017002028.1:c.14259C>G	XP_016857517.1:p.His4753Gln