Canonical Allele Identifier: CA345426512

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237819144A>G , CM000663.2:g.237819144A>G	GRCh38
NC_000001.10:g.237982444A>G , CM000663.1:g.237982444A>G	GRCh37
NC_000001.9:g.236049067A>G	NCBI36
NG_008799.2:g.781743A>G
NG_008799.3:g.781961A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.14542A>G MANE Select	NP_001026.2:p.Ile4848Val
ENST00000366574.7:c.14542A>G MANE Select	ENSP00000355533.2:p.Ile4848Val
NM_001035.2:c.14542A>G	NP_001026.2:p.Ile4848Val
ENST00000360064.7:c.14491A>G	ENSP00000353174.7:p.Ile4831Val
ENST00000366574.6:c.14542A>G	ENSP00000355533.2:p.Ile4848Val
ENST00000608590.5:n.1053A>G
ENST00000609119.2:c.*5634A>G	ENSP00000499659.2:n.*5634A>G
ENST00000659194.2:c.6713A>G
ENST00000659194.3:c.14524A>G	ENSP00000499653.3:p.Ile4842Val
ENST00000660292.2:c.14563A>G	ENSP00000499787.2:p.Ile4855Val
XM_006711802.2:c.14596A>G	XP_006711865.1:p.Ile4866Val
XM_006711802.3:c.14596A>G	XP_006711865.1:p.Ile4866Val
XM_006711803.2:c.14593A>G	XP_006711866.1:p.Ile4865Val
XM_006711803.3:c.14593A>G	XP_006711866.1:p.Ile4865Val
XM_006711804.2:c.14572A>G	XP_006711867.1:p.Ile4858Val
XM_006711804.3:c.14572A>G	XP_006711867.1:p.Ile4858Val
XM_006711805.2:c.14566A>G	XP_006711868.1:p.Ile4856Val
XM_006711805.3:c.14566A>G	XP_006711868.1:p.Ile4856Val
XM_006711806.2:c.14560A>G	XP_006711869.1:p.Ile4854Val
XM_006711806.3:c.14560A>G	XP_006711869.1:p.Ile4854Val
XM_006711807.2:c.14536A>G	XP_006711870.1:p.Ile4846Val
XM_006711807.3:c.14536A>G	XP_006711870.1:p.Ile4846Val
XM_006711808.2:c.14359A>G	XP_006711871.1:p.Ile4787Val
XM_006711808.3:c.14359A>G	XP_006711871.1:p.Ile4787Val
XM_006711810.2:c.14503A>G	XP_006711873.1:p.Ile4835Val
XM_006711810.3:c.14503A>G	XP_006711873.1:p.Ile4835Val
XM_017002028.1:c.14575A>G	XP_016857517.1:p.Ile4859Val