Canonical Allele Identifier: CA423821063

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237614039A>G , CM000663.2:g.237614039A>G	GRCh38
NC_000001.10:g.237777339A>G , CM000663.1:g.237777339A>G	GRCh37
NC_000001.9:g.235843962A>G	NCBI36
NG_008799.2:g.576638A>G
NG_008799.3:g.576856A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.4911A>G MANE Select	NP_001026.2:p.Arg1637=
ENST00000366574.7:c.4911A>G MANE Select	ENSP00000355533.2:p.Arg1637=
NM_001035.2:c.4911A>G	NP_001026.2:p.Arg1637=
ENST00000360064.7:c.4863A>G	ENSP00000353174.7:p.Arg1621=
ENST00000366574.6:c.4911A>G	ENSP00000355533.2:p.Arg1637=
ENST00000609119.2:c.4911A>G	ENSP00000499659.2:p.Arg1637=
ENST00000659194.3:c.4911A>G	ENSP00000499653.3:p.Arg1637=
ENST00000660292.2:c.4911A>G	ENSP00000499787.2:p.Arg1637=
XM_006711802.2:c.4941A>G	XP_006711865.1:p.Arg1647=
XM_006711802.3:c.4941A>G	XP_006711865.1:p.Arg1647=
XM_006711803.2:c.4938A>G	XP_006711866.1:p.Arg1646=
XM_006711803.3:c.4938A>G	XP_006711866.1:p.Arg1646=
XM_006711804.2:c.4941A>G	XP_006711867.1:p.Arg1647=
XM_006711804.3:c.4941A>G	XP_006711867.1:p.Arg1647=
XM_006711805.2:c.4911A>G	XP_006711868.1:p.Arg1637=
XM_006711805.3:c.4911A>G	XP_006711868.1:p.Arg1637=
XM_006711806.2:c.4941A>G	XP_006711869.1:p.Arg1647=
XM_006711806.3:c.4941A>G	XP_006711869.1:p.Arg1647=
XM_006711807.2:c.4941A>G	XP_006711870.1:p.Arg1647=
XM_006711807.3:c.4941A>G	XP_006711870.1:p.Arg1647=
XM_006711808.2:c.4941A>G	XP_006711871.1:p.Arg1647=
XM_006711808.3:c.4941A>G	XP_006711871.1:p.Arg1647=
XM_006711809.2:c.4941A>G	XP_006711872.1:p.Arg1647=
XM_006711810.2:c.4908A>G	XP_006711873.1:p.Arg1636=
XM_006711810.3:c.4908A>G	XP_006711873.1:p.Arg1636=
XM_017002028.1:c.4920A>G	XP_016857517.1:p.Arg1640=
XR_002957299.1:n.5255A>G
XR_949152.1:n.5222A>G
XR_949152.2:n.5255A>G