Canonical Allele Identifier: CA39835439

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237833046A>G , CM000663.2:g.237833046A>G	GRCh38
NC_000001.10:g.237996346A>G , CM000663.1:g.237996346A>G	GRCh37
NC_000001.9:g.236062969A>G	NCBI36
NG_008799.2:g.795645A>G
NG_008799.3:g.795863A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.*399A>G MANE Select	NP_001026.2:n.*399A>G
ENST00000366574.7:c.*399A>G MANE Select	ENSP00000355533.2:n.*399A>G
NM_001035.2:c.*399A>G	NP_001026.2:n.*399A>G
ENST00000366574.6:c.*399A>G	ENSP00000355533.2:n.*399A>G
ENST00000609119.2:c.*6395A>G	ENSP00000499659.2:n.*6395A>G
ENST00000659194.2:c.7474A>G
ENST00000659194.3:c.*399A>G	ENSP00000499653.3:n.*399A>G
ENST00000660292.2:c.*399A>G	ENSP00000499787.2:n.*399A>G
XM_006711802.2:c.*399A>G	XP_006711865.1:n.*399A>G
XM_006711802.3:c.*399A>G	XP_006711865.1:n.*399A>G
XM_006711803.2:c.*399A>G	XP_006711866.1:n.*399A>G
XM_006711803.3:c.*399A>G	XP_006711866.1:n.*399A>G
XM_006711804.2:c.*399A>G	XP_006711867.1:n.*399A>G
XM_006711804.3:c.*399A>G	XP_006711867.1:n.*399A>G
XM_006711805.2:c.*399A>G	XP_006711868.1:n.*399A>G
XM_006711805.3:c.*399A>G	XP_006711868.1:n.*399A>G
XM_006711806.2:c.*399A>G	XP_006711869.1:n.*399A>G
XM_006711806.3:c.*399A>G	XP_006711869.1:n.*399A>G
XM_006711807.2:c.*399A>G	XP_006711870.1:n.*399A>G
XM_006711807.3:c.*399A>G	XP_006711870.1:n.*399A>G
XM_006711808.2:c.*399A>G	XP_006711871.1:n.*399A>G
XM_006711808.3:c.*399A>G	XP_006711871.1:n.*399A>G
XM_006711810.2:c.*399A>G	XP_006711873.1:n.*399A>G
XM_006711810.3:c.*399A>G	XP_006711873.1:n.*399A>G
XM_017002028.1:c.*399A>G	XP_016857517.1:n.*399A>G