Canonical Allele Identifier: CA345423074

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237806219A>G , CM000663.2:g.237806219A>G	GRCh38
NC_000001.10:g.237969519A>G , CM000663.1:g.237969519A>G	GRCh37
NC_000001.9:g.236036142A>G	NCBI36
NG_008799.2:g.768818A>G
NG_008799.3:g.769036A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.14234A>G MANE Select	NP_001026.2:p.Asp4745Gly
ENST00000366574.7:c.14234A>G MANE Select	ENSP00000355533.2:p.Asp4745Gly
NM_001035.2:c.14234A>G	NP_001026.2:p.Asp4745Gly
ENST00000360064.7:c.14183A>G	ENSP00000353174.7:p.Asp4728Gly
ENST00000366574.6:c.14234A>G	ENSP00000355533.2:p.Asp4745Gly
ENST00000608590.5:n.745A>G
ENST00000609119.2:c.*5326A>G	ENSP00000499659.2:n.*5326A>G
ENST00000659194.2:c.6405A>G
ENST00000659194.3:c.14216A>G	ENSP00000499653.3:p.Asp4739Gly
ENST00000660292.2:c.14255A>G	ENSP00000499787.2:p.Asp4752Gly
XM_006711802.2:c.14288A>G	XP_006711865.1:p.Asp4763Gly
XM_006711802.3:c.14288A>G	XP_006711865.1:p.Asp4763Gly
XM_006711803.2:c.14285A>G	XP_006711866.1:p.Asp4762Gly
XM_006711803.3:c.14285A>G	XP_006711866.1:p.Asp4762Gly
XM_006711804.2:c.14264A>G	XP_006711867.1:p.Asp4755Gly
XM_006711804.3:c.14264A>G	XP_006711867.1:p.Asp4755Gly
XM_006711805.2:c.14258A>G	XP_006711868.1:p.Asp4753Gly
XM_006711805.3:c.14258A>G	XP_006711868.1:p.Asp4753Gly
XM_006711806.2:c.14252A>G	XP_006711869.1:p.Asp4751Gly
XM_006711806.3:c.14252A>G	XP_006711869.1:p.Asp4751Gly
XM_006711807.2:c.14228A>G	XP_006711870.1:p.Asp4743Gly
XM_006711807.3:c.14228A>G	XP_006711870.1:p.Asp4743Gly
XM_006711808.2:c.14051A>G	XP_006711871.1:p.Asp4684Gly
XM_006711808.3:c.14051A>G	XP_006711871.1:p.Asp4684Gly
XM_006711810.2:c.14195A>G	XP_006711873.1:p.Asp4732Gly
XM_006711810.3:c.14195A>G	XP_006711873.1:p.Asp4732Gly
XM_017002028.1:c.14267A>G	XP_016857517.1:p.Asp4756Gly