Canonical Allele Identifier: CA085429

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237792196A>G , CM000663.2:g.237792196A>G	GRCh38
NC_000001.10:g.237955496A>G , CM000663.1:g.237955496A>G	GRCh37
NC_000001.9:g.236022119A>G	NCBI36
NG_008799.2:g.754795A>G
NG_008799.3:g.755013A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.13655A>G MANE Select	NP_001026.2:p.His4552Arg
ENST00000366574.7:c.13655A>G MANE Select	ENSP00000355533.2:p.His4552Arg
NM_001035.2:c.13655A>G	NP_001026.2:p.His4552Arg
ENST00000360064.7:c.13604A>G	ENSP00000353174.7:p.His4535Arg
ENST00000366574.6:c.13655A>G	ENSP00000355533.2:p.His4552Arg
ENST00000608590.5:n.166A>G
ENST00000609119.2:c.*4747A>G	ENSP00000499659.2:n.*4747A>G
ENST00000659194.2:c.5826A>G
ENST00000659194.3:c.13637A>G	ENSP00000499653.3:p.His4546Arg
ENST00000660292.1:c.3708A>G
ENST00000660292.2:c.13676A>G	ENSP00000499787.2:p.His4559Arg
XM_006711802.2:c.13709A>G	XP_006711865.1:p.His4570Arg
XM_006711802.3:c.13709A>G	XP_006711865.1:p.His4570Arg
XM_006711803.2:c.13706A>G	XP_006711866.1:p.His4569Arg
XM_006711803.3:c.13706A>G	XP_006711866.1:p.His4569Arg
XM_006711804.2:c.13685A>G	XP_006711867.1:p.His4562Arg
XM_006711804.3:c.13685A>G	XP_006711867.1:p.His4562Arg
XM_006711805.2:c.13679A>G	XP_006711868.1:p.His4560Arg
XM_006711805.3:c.13679A>G	XP_006711868.1:p.His4560Arg
XM_006711806.2:c.13673A>G	XP_006711869.1:p.His4558Arg
XM_006711806.3:c.13673A>G	XP_006711869.1:p.His4558Arg
XM_006711807.2:c.13649A>G	XP_006711870.1:p.His4550Arg
XM_006711807.3:c.13649A>G	XP_006711870.1:p.His4550Arg
XM_006711808.2:c.13472A>G	XP_006711871.1:p.His4491Arg
XM_006711808.3:c.13472A>G	XP_006711871.1:p.His4491Arg
XM_006711810.2:c.13616A>G	XP_006711873.1:p.His4539Arg
XM_006711810.3:c.13616A>G	XP_006711873.1:p.His4539Arg
XM_017002028.1:c.13688A>G	XP_016857517.1:p.His4563Arg