Canonical Allele Identifier: CA345408881

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237707138A>G , CM000663.2:g.237707138A>G	GRCh38
NC_000001.10:g.237870438A>G , CM000663.1:g.237870438A>G	GRCh37
NC_000001.9:g.235937061A>G	NCBI36
NG_008799.2:g.669737A>G
NG_008799.3:g.669955A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.9770A>G MANE Select	NP_001026.2:p.Asn3257Ser
ENST00000366574.7:c.9770A>G MANE Select	ENSP00000355533.2:p.Asn3257Ser
NM_001035.2:c.9770A>G	NP_001026.2:p.Asn3257Ser
ENST00000360064.7:c.9722A>G	ENSP00000353174.7:p.Asn3241Ser
ENST00000366574.6:c.9770A>G	ENSP00000355533.2:p.Asn3257Ser
ENST00000609119.1:n.908A>G
ENST00000609119.2:c.*805A>G	ENSP00000499659.2:n.*805A>G
ENST00000659194.1:c.1959A>G
ENST00000659194.2:c.1959A>G
ENST00000659194.3:c.9770A>G	ENSP00000499653.3:p.Asn3257Ser
ENST00000660292.2:c.9770A>G	ENSP00000499787.2:p.Asn3257Ser
XM_006711802.2:c.9800A>G	XP_006711865.1:p.Asn3267Ser
XM_006711802.3:c.9800A>G	XP_006711865.1:p.Asn3267Ser
XM_006711803.2:c.9797A>G	XP_006711866.1:p.Asn3266Ser
XM_006711803.3:c.9797A>G	XP_006711866.1:p.Asn3266Ser
XM_006711804.2:c.9800A>G	XP_006711867.1:p.Asn3267Ser
XM_006711804.3:c.9800A>G	XP_006711867.1:p.Asn3267Ser
XM_006711805.2:c.9770A>G	XP_006711868.1:p.Asn3257Ser
XM_006711805.3:c.9770A>G	XP_006711868.1:p.Asn3257Ser
XM_006711806.2:c.9800A>G	XP_006711869.1:p.Asn3267Ser
XM_006711806.3:c.9800A>G	XP_006711869.1:p.Asn3267Ser
XM_006711807.2:c.9800A>G	XP_006711870.1:p.Asn3267Ser
XM_006711807.3:c.9800A>G	XP_006711870.1:p.Asn3267Ser
XM_006711808.2:c.9563A>G	XP_006711871.1:p.Asn3188Ser
XM_006711808.3:c.9563A>G	XP_006711871.1:p.Asn3188Ser
XM_006711810.2:c.9767A>G	XP_006711873.1:p.Asn3256Ser
XM_006711810.3:c.9767A>G	XP_006711873.1:p.Asn3256Ser
XM_017002028.1:c.9779A>G	XP_016857517.1:p.Asn3260Ser