Canonical Allele Identifier: CA085424

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237792168A>G , CM000663.2:g.237792168A>G	GRCh38
NC_000001.10:g.237955468A>G , CM000663.1:g.237955468A>G	GRCh37
NC_000001.9:g.236022091A>G	NCBI36
NG_008799.2:g.754767A>G
NG_008799.3:g.754985A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.13627A>G MANE Select	NP_001026.2:p.Lys4543Glu
ENST00000366574.7:c.13627A>G MANE Select	ENSP00000355533.2:p.Lys4543Glu
NM_001035.2:c.13627A>G	NP_001026.2:p.Lys4543Glu
ENST00000360064.7:c.13576A>G	ENSP00000353174.7:p.Lys4526Glu
ENST00000366574.6:c.13627A>G	ENSP00000355533.2:p.Lys4543Glu
ENST00000608590.5:n.138A>G
ENST00000609119.2:c.*4719A>G	ENSP00000499659.2:n.*4719A>G
ENST00000659194.2:c.5798A>G
ENST00000659194.3:c.13609A>G	ENSP00000499653.3:p.Lys4537Glu
ENST00000660292.1:c.3680A>G
ENST00000660292.2:c.13648A>G	ENSP00000499787.2:p.Lys4550Glu
XM_006711802.2:c.13681A>G	XP_006711865.1:p.Lys4561Glu
XM_006711802.3:c.13681A>G	XP_006711865.1:p.Lys4561Glu
XM_006711803.2:c.13678A>G	XP_006711866.1:p.Lys4560Glu
XM_006711803.3:c.13678A>G	XP_006711866.1:p.Lys4560Glu
XM_006711804.2:c.13657A>G	XP_006711867.1:p.Lys4553Glu
XM_006711804.3:c.13657A>G	XP_006711867.1:p.Lys4553Glu
XM_006711805.2:c.13651A>G	XP_006711868.1:p.Lys4551Glu
XM_006711805.3:c.13651A>G	XP_006711868.1:p.Lys4551Glu
XM_006711806.2:c.13645A>G	XP_006711869.1:p.Lys4549Glu
XM_006711806.3:c.13645A>G	XP_006711869.1:p.Lys4549Glu
XM_006711807.2:c.13621A>G	XP_006711870.1:p.Lys4541Glu
XM_006711807.3:c.13621A>G	XP_006711870.1:p.Lys4541Glu
XM_006711808.2:c.13444A>G	XP_006711871.1:p.Lys4482Glu
XM_006711808.3:c.13444A>G	XP_006711871.1:p.Lys4482Glu
XM_006711810.2:c.13588A>G	XP_006711873.1:p.Lys4530Glu
XM_006711810.3:c.13588A>G	XP_006711873.1:p.Lys4530Glu
XM_017002028.1:c.13660A>G	XP_016857517.1:p.Lys4554Glu