Canonical Allele Identifier: CA085364

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237788058A>G , CM000663.2:g.237788058A>G	GRCh38
NC_000001.10:g.237951358A>G , CM000663.1:g.237951358A>G	GRCh37
NC_000001.9:g.236017981A>G	NCBI36
NG_008799.2:g.750657A>G
NG_008799.3:g.750875A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.13399A>G MANE Select	NP_001026.2:p.Thr4467Ala
ENST00000366574.7:c.13399A>G MANE Select	ENSP00000355533.2:p.Thr4467Ala
NM_001035.2:c.13399A>G	NP_001026.2:p.Thr4467Ala
ENST00000360064.7:c.13348A>G	ENSP00000353174.7:p.Thr4450Ala
ENST00000366574.6:c.13399A>G	ENSP00000355533.2:p.Thr4467Ala
ENST00000609119.2:c.*4491A>G	ENSP00000499659.2:n.*4491A>G
ENST00000659194.2:c.5570A>G
ENST00000659194.3:c.13381A>G	ENSP00000499653.3:p.Thr4461Ala
ENST00000660292.1:c.3452A>G
ENST00000660292.2:c.13420A>G	ENSP00000499787.2:p.Thr4474Ala
XM_006711802.2:c.13453A>G	XP_006711865.1:p.Thr4485Ala
XM_006711802.3:c.13453A>G	XP_006711865.1:p.Thr4485Ala
XM_006711803.2:c.13450A>G	XP_006711866.1:p.Thr4484Ala
XM_006711803.3:c.13450A>G	XP_006711866.1:p.Thr4484Ala
XM_006711804.2:c.13429A>G	XP_006711867.1:p.Thr4477Ala
XM_006711804.3:c.13429A>G	XP_006711867.1:p.Thr4477Ala
XM_006711805.2:c.13423A>G	XP_006711868.1:p.Thr4475Ala
XM_006711805.3:c.13423A>G	XP_006711868.1:p.Thr4475Ala
XM_006711806.2:c.13417A>G	XP_006711869.1:p.Thr4473Ala
XM_006711806.3:c.13417A>G	XP_006711869.1:p.Thr4473Ala
XM_006711807.2:c.13393A>G	XP_006711870.1:p.Thr4465Ala
XM_006711807.3:c.13393A>G	XP_006711870.1:p.Thr4465Ala
XM_006711808.2:c.13216A>G	XP_006711871.1:p.Thr4406Ala
XM_006711808.3:c.13216A>G	XP_006711871.1:p.Thr4406Ala
XM_006711810.2:c.13360A>G	XP_006711873.1:p.Thr4454Ala
XM_006711810.3:c.13360A>G	XP_006711873.1:p.Thr4454Ala
XM_017002028.1:c.13432A>G	XP_016857517.1:p.Thr4478Ala