Canonical Allele Identifier: CA345401885

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237660881A>T , CM000663.2:g.237660881A>T	GRCh38
NC_000001.10:g.237824181A>T , CM000663.1:g.237824181A>T	GRCh37
NC_000001.9:g.235890804A>T	NCBI36
NG_008799.2:g.623480A>T
NG_008799.3:g.623698A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.8370A>T MANE Select	NP_001026.2:p.Glu2790Asp
ENST00000366574.7:c.8370A>T MANE Select	ENSP00000355533.2:p.Glu2790Asp
NM_001035.2:c.8370A>T	NP_001026.2:p.Glu2790Asp
ENST00000360064.7:c.8322A>T	ENSP00000353174.7:p.Glu2774Asp
ENST00000366574.6:c.8370A>T	ENSP00000355533.2:p.Glu2790Asp
ENST00000609119.2:c.8370A>T	ENSP00000499659.2:p.Glu2790Asp
ENST00000659194.1:c.559A>T
ENST00000659194.2:c.559A>T
ENST00000659194.3:c.8370A>T	ENSP00000499653.3:p.Glu2790Asp
ENST00000660292.2:c.8370A>T	ENSP00000499787.2:p.Glu2790Asp
XM_006711802.2:c.8400A>T	XP_006711865.1:p.Glu2800Asp
XM_006711802.3:c.8400A>T	XP_006711865.1:p.Glu2800Asp
XM_006711803.2:c.8397A>T	XP_006711866.1:p.Glu2799Asp
XM_006711803.3:c.8397A>T	XP_006711866.1:p.Glu2799Asp
XM_006711804.2:c.8400A>T	XP_006711867.1:p.Glu2800Asp
XM_006711804.3:c.8400A>T	XP_006711867.1:p.Glu2800Asp
XM_006711805.2:c.8370A>T	XP_006711868.1:p.Glu2790Asp
XM_006711805.3:c.8370A>T	XP_006711868.1:p.Glu2790Asp
XM_006711806.2:c.8400A>T	XP_006711869.1:p.Glu2800Asp
XM_006711806.3:c.8400A>T	XP_006711869.1:p.Glu2800Asp
XM_006711807.2:c.8400A>T	XP_006711870.1:p.Glu2800Asp
XM_006711807.3:c.8400A>T	XP_006711870.1:p.Glu2800Asp
XM_006711808.2:c.8400A>T	XP_006711871.1:p.Glu2800Asp
XM_006711808.3:c.8400A>T	XP_006711871.1:p.Glu2800Asp
XM_006711810.2:c.8367A>T	XP_006711873.1:p.Glu2789Asp
XM_006711810.3:c.8367A>T	XP_006711873.1:p.Glu2789Asp
XM_017002028.1:c.8379A>T	XP_016857517.1:p.Glu2793Asp
XR_002957299.1:n.8781A>T
XR_949152.1:n.8681A>T
XR_949152.2:n.8714A>T