Canonical Allele Identifier: CA345399118

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237649944T>G , CM000663.2:g.237649944T>G	GRCh38
NC_000001.10:g.237813244T>G , CM000663.1:g.237813244T>G	GRCh37
NC_000001.9:g.235879867T>G	NCBI36
NG_008799.2:g.612543T>G
NG_008799.3:g.612761T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.7580T>G MANE Select	NP_001026.2:p.Leu2527Trp
ENST00000366574.7:c.7580T>G MANE Select	ENSP00000355533.2:p.Leu2527Trp
NM_001035.2:c.7580T>G	NP_001026.2:p.Leu2527Trp
ENST00000360064.7:c.7532T>G	ENSP00000353174.7:p.Leu2511Trp
ENST00000366574.6:c.7580T>G	ENSP00000355533.2:p.Leu2527Trp
ENST00000609119.2:c.7580T>G	ENSP00000499659.2:p.Leu2527Trp
ENST00000659194.3:c.7580T>G	ENSP00000499653.3:p.Leu2527Trp
ENST00000660292.2:c.7580T>G	ENSP00000499787.2:p.Leu2527Trp
XM_006711802.2:c.7610T>G	XP_006711865.1:p.Leu2537Trp
XM_006711802.3:c.7610T>G	XP_006711865.1:p.Leu2537Trp
XM_006711803.2:c.7607T>G	XP_006711866.1:p.Leu2536Trp
XM_006711803.3:c.7607T>G	XP_006711866.1:p.Leu2536Trp
XM_006711804.2:c.7610T>G	XP_006711867.1:p.Leu2537Trp
XM_006711804.3:c.7610T>G	XP_006711867.1:p.Leu2537Trp
XM_006711805.2:c.7580T>G	XP_006711868.1:p.Leu2527Trp
XM_006711805.3:c.7580T>G	XP_006711868.1:p.Leu2527Trp
XM_006711806.2:c.7610T>G	XP_006711869.1:p.Leu2537Trp
XM_006711806.3:c.7610T>G	XP_006711869.1:p.Leu2537Trp
XM_006711807.2:c.7610T>G	XP_006711870.1:p.Leu2537Trp
XM_006711807.3:c.7610T>G	XP_006711870.1:p.Leu2537Trp
XM_006711808.2:c.7610T>G	XP_006711871.1:p.Leu2537Trp
XM_006711808.3:c.7610T>G	XP_006711871.1:p.Leu2537Trp
XM_006711809.2:c.7610T>G	XP_006711872.1:p.Leu2537Trp
XM_006711810.2:c.7577T>G	XP_006711873.1:p.Leu2526Trp
XM_006711810.3:c.7577T>G	XP_006711873.1:p.Leu2526Trp
XM_017002028.1:c.7589T>G	XP_016857517.1:p.Leu2530Trp
XR_002957299.1:n.7924T>G
XR_949152.1:n.7891T>G
XR_949152.2:n.7924T>G