Canonical Allele Identifier: CA10609811

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784709A>G , CM000663.2:g.237784709A>G	GRCh38
NC_000001.10:g.237948009A>G , CM000663.1:g.237948009A>G	GRCh37
NC_000001.9:g.236014632A>G	NCBI36
NG_008799.2:g.747308A>G
NG_008799.3:g.747526A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.12997A>G MANE Select	NP_001026.2:p.Asn4333Asp
ENST00000366574.7:c.12997A>G MANE Select	ENSP00000355533.2:p.Asn4333Asp
NM_001035.2:c.12997A>G	NP_001026.2:p.Asn4333Asp
ENST00000360064.7:c.12949A>G	ENSP00000353174.7:p.Asn4317Asp
ENST00000366574.6:c.12997A>G	ENSP00000355533.2:p.Asn4333Asp
ENST00000609119.1:n.4192A>G
ENST00000609119.2:c.*4089A>G	ENSP00000499659.2:n.*4089A>G
ENST00000659194.1:c.5174A>G
ENST00000659194.2:c.5174A>G
ENST00000659194.3:c.12985A>G	ENSP00000499653.3:p.Asn4329Asp
ENST00000660292.1:c.3050A>G
ENST00000660292.2:c.13018A>G	ENSP00000499787.2:p.Asn4340Asp
XM_006711802.2:c.13051A>G	XP_006711865.1:p.Asn4351Asp
XM_006711802.3:c.13051A>G	XP_006711865.1:p.Asn4351Asp
XM_006711803.2:c.13048A>G	XP_006711866.1:p.Asn4350Asp
XM_006711803.3:c.13048A>G	XP_006711866.1:p.Asn4350Asp
XM_006711804.2:c.13027A>G	XP_006711867.1:p.Asn4343Asp
XM_006711804.3:c.13027A>G	XP_006711867.1:p.Asn4343Asp
XM_006711805.2:c.13021A>G	XP_006711868.1:p.Asn4341Asp
XM_006711805.3:c.13021A>G	XP_006711868.1:p.Asn4341Asp
XM_006711806.2:c.13015A>G	XP_006711869.1:p.Asn4339Asp
XM_006711806.3:c.13015A>G	XP_006711869.1:p.Asn4339Asp
XM_006711807.2:c.12991A>G	XP_006711870.1:p.Asn4331Asp
XM_006711807.3:c.12991A>G	XP_006711870.1:p.Asn4331Asp
XM_006711808.2:c.12814A>G	XP_006711871.1:p.Asn4272Asp
XM_006711808.3:c.12814A>G	XP_006711871.1:p.Asn4272Asp
XM_006711810.2:c.12958A>G	XP_006711873.1:p.Asn4320Asp
XM_006711810.3:c.12958A>G	XP_006711873.1:p.Asn4320Asp
XM_017002028.1:c.13030A>G	XP_016857517.1:p.Asn4344Asp