Canonical Allele Identifier: CA39832329

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237792284C>G , CM000663.2:g.237792284C>G	GRCh38
NC_000001.10:g.237955584C>G , CM000663.1:g.237955584C>G	GRCh37
NC_000001.9:g.236022207C>G	NCBI36
NG_008799.2:g.754883C>G
NG_008799.3:g.755101C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.13743C>G MANE Select	NP_001026.2:p.Val4581=
ENST00000366574.7:c.13743C>G MANE Select	ENSP00000355533.2:p.Val4581=
NM_001035.2:c.13743C>G	NP_001026.2:p.Val4581=
ENST00000360064.7:c.13692C>G	ENSP00000353174.7:p.Val4564=
ENST00000366574.6:c.13743C>G	ENSP00000355533.2:p.Val4581=
ENST00000608590.5:n.254C>G
ENST00000609119.2:c.*4835C>G	ENSP00000499659.2:n.*4835C>G
ENST00000659194.2:c.5914C>G
ENST00000659194.3:c.13725C>G	ENSP00000499653.3:p.Val4575=
ENST00000660292.1:c.3796C>G
ENST00000660292.2:c.13764C>G	ENSP00000499787.2:p.Val4588=
XM_006711802.2:c.13797C>G	XP_006711865.1:p.Val4599=
XM_006711802.3:c.13797C>G	XP_006711865.1:p.Val4599=
XM_006711803.2:c.13794C>G	XP_006711866.1:p.Val4598=
XM_006711803.3:c.13794C>G	XP_006711866.1:p.Val4598=
XM_006711804.2:c.13773C>G	XP_006711867.1:p.Val4591=
XM_006711804.3:c.13773C>G	XP_006711867.1:p.Val4591=
XM_006711805.2:c.13767C>G	XP_006711868.1:p.Val4589=
XM_006711805.3:c.13767C>G	XP_006711868.1:p.Val4589=
XM_006711806.2:c.13761C>G	XP_006711869.1:p.Val4587=
XM_006711806.3:c.13761C>G	XP_006711869.1:p.Val4587=
XM_006711807.2:c.13737C>G	XP_006711870.1:p.Val4579=
XM_006711807.3:c.13737C>G	XP_006711870.1:p.Val4579=
XM_006711808.2:c.13560C>G	XP_006711871.1:p.Val4520=
XM_006711808.3:c.13560C>G	XP_006711871.1:p.Val4520=
XM_006711810.2:c.13704C>G	XP_006711873.1:p.Val4568=
XM_006711810.3:c.13704C>G	XP_006711873.1:p.Val4568=
XM_017002028.1:c.13776C>G	XP_016857517.1:p.Val4592=