Canonical Allele Identifier: CA345380521

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236739423C>G , CM000663.2:g.236739423C>G	GRCh38
NC_000001.10:g.236902723C>G , CM000663.1:g.236902723C>G	GRCh37
NC_000001.9:g.234969346C>G	NCBI36
NG_009081.1:g.57954C>G
NG_009081.2:g.80283C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001103.4:c.998C>G MANE Select	NP_001094.1:p.Pro333Arg
ENST00000366578.6:c.998C>G MANE Select	ENSP00000355537.4:p.Pro333Arg
NM_001103.3:c.998C>G	NP_001094.1:p.Pro333Arg
NM_001278343.1:c.998C>G	NP_001265272.1:p.Pro333Arg
NM_001278343.2:c.998C>G	NP_001265272.1:p.Pro333Arg
NM_001278344.1:c.374C>G	NP_001265273.1:p.Pro125Arg
NM_001278344.2:c.374C>G	NP_001265273.1:p.Pro125Arg
ENST00000366578.5:c.998C>G	ENSP00000355537.4:p.Pro333Arg
ENST00000492634.5:n.1231C>G
ENST00000492634.6:n.928C>G
ENST00000492634.7:n.928C>G
ENST00000494762.1:n.318C>G
ENST00000542672.5:c.998C>G	ENSP00000443495.1:p.Pro333Arg
ENST00000542672.6:c.998C>G	ENSP00000443495.1:p.Pro333Arg
ENST00000542672.7:c.998C>G	ENSP00000443495.1:p.Pro333Arg
ENST00000546208.5:c.374C>G	ENSP00000438384.2:p.Pro125Arg
ENST00000651091.1:c.688C>G	ENSP00000498677.1:n.688C>G
ENST00000651275.1:c.890C>G	ENSP00000498926.1:p.Pro297Arg
ENST00000651781.1:c.210+2243C>G
ENST00000651786.1:c.*370C>G	ENSP00000498364.1:n.*370C>G
ENST00000652096.1:c.*403C>G	ENSP00000498896.1:n.*403C>G
ENST00000682015.1:c.905C>G	ENSP00000506961.1:p.Pro302Arg
ENST00000682692.1:n.745C>G
ENST00000682966.1:n.6639C>G
ENST00000683111.1:c.*284C>G	ENSP00000507913.1:n.*284C>G
ENST00000683322.1:n.2350C>G
ENST00000684050.1:n.3636C>G
ENST00000684286.1:n.2553C>G
ENST00000684502.1:n.947C>G