Canonical Allele Identifier: CA345407069

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237772044A>G , CM000663.2:g.237772044A>G	GRCh38
NC_000001.10:g.237935344A>G , CM000663.1:g.237935344A>G	GRCh37
NC_000001.9:g.236001967A>G	NCBI36
NG_008799.2:g.734643A>G
NG_008799.3:g.734861A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.11590A>G MANE Select	NP_001026.2:p.Asn3864Asp
ENST00000366574.7:c.11590A>G MANE Select	ENSP00000355533.2:p.Asn3864Asp
NM_001035.2:c.11590A>G	NP_001026.2:p.Asn3864Asp
ENST00000360064.7:c.11542A>G	ENSP00000353174.7:p.Asn3848Asp
ENST00000366574.6:c.11590A>G	ENSP00000355533.2:p.Asn3864Asp
ENST00000609119.1:n.2785A>G
ENST00000609119.2:c.*2682A>G	ENSP00000499659.2:n.*2682A>G
ENST00000659194.1:c.3767A>G
ENST00000659194.2:c.3767A>G
ENST00000659194.3:c.11578A>G	ENSP00000499653.3:p.Asn3860Asp
ENST00000660292.1:c.1643A>G
ENST00000660292.2:c.11611A>G	ENSP00000499787.2:p.Asn3871Asp
XM_006711802.2:c.11644A>G	XP_006711865.1:p.Asn3882Asp
XM_006711802.3:c.11644A>G	XP_006711865.1:p.Asn3882Asp
XM_006711803.2:c.11641A>G	XP_006711866.1:p.Asn3881Asp
XM_006711803.3:c.11641A>G	XP_006711866.1:p.Asn3881Asp
XM_006711804.2:c.11620A>G	XP_006711867.1:p.Asn3874Asp
XM_006711804.3:c.11620A>G	XP_006711867.1:p.Asn3874Asp
XM_006711805.2:c.11614A>G	XP_006711868.1:p.Asn3872Asp
XM_006711805.3:c.11614A>G	XP_006711868.1:p.Asn3872Asp
XM_006711806.2:c.11608A>G	XP_006711869.1:p.Asn3870Asp
XM_006711806.3:c.11608A>G	XP_006711869.1:p.Asn3870Asp
XM_006711807.2:c.11584A>G	XP_006711870.1:p.Asn3862Asp
XM_006711807.3:c.11584A>G	XP_006711870.1:p.Asn3862Asp
XM_006711808.2:c.11407A>G	XP_006711871.1:p.Asn3803Asp
XM_006711808.3:c.11407A>G	XP_006711871.1:p.Asn3803Asp
XM_006711810.2:c.11551A>G	XP_006711873.1:p.Asn3851Asp
XM_006711810.3:c.11551A>G	XP_006711873.1:p.Asn3851Asp
XM_017002028.1:c.11623A>G	XP_016857517.1:p.Asn3875Asp