Canonical Allele Identifier: CA2574162128

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762646C>A , CM000663.2:g.236762646C>A	GRCh38
NC_000001.10:g.236925946C>A , CM000663.1:g.236925946C>A	GRCh37
NC_000001.9:g.234992569C>A	NCBI36
NG_009081.1:g.81177C>A
NG_009081.2:g.103506C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*27C>A	ENSP00000443495.1:n.*27C>A
ENST00000461367.2:n.1008C>A
ENST00000492634.7:n.2642C>A
ENST00000682015.1:c.*27C>A	ENSP00000506961.1:n.*27C>A
ENST00000682490.1:n.630C>A
ENST00000682692.1:n.3807C>A
ENST00000682966.1:n.8353C>A
ENST00000683111.1:c.*1998C>A	ENSP00000507913.1:n.*1998C>A
ENST00000683322.1:n.4064C>A
ENST00000683805.1:n.1503C>A
ENST00000684050.1:n.5350C>A
ENST00000684122.1:n.2146C>A
ENST00000684286.1:n.4267C>A
ENST00000684502.1:n.4009C>A
ENST00000684763.1:n.1327C>A
ENST00000366578.6:c.*27C>A MANE Select	ENSP00000355537.4:n.*27C>A
ENST00000492634.6:n.2642C>A
ENST00000542672.6:c.*27C>A	ENSP00000443495.1:n.*27C>A
ENST00000651275.1:c.2604C>A	ENSP00000498926.1:n.2604C>A
ENST00000651781.1:c.1792C>A
ENST00000651786.1:c.*2084C>A	ENSP00000498364.1:n.*2084C>A
ENST00000652096.1:c.*2117C>A	ENSP00000498896.1:n.*2117C>A
ENST00000366578.5:c.*27C>A	ENSP00000355537.4:n.*27C>A
ENST00000542672.5:c.*27C>A	ENSP00000443495.1:n.*27C>A
ENST00000546208.5:c.*27C>A	ENSP00000438384.2:n.*27C>A
NM_001103.3:c.*27C>A	NP_001094.1:n.*27C>A
NM_001278343.1:c.*27C>A	NP_001265272.1:n.*27C>A
NM_001278344.1:c.*27C>A	NP_001265273.1:n.*27C>A
NM_001278343.2:c.*27C>A	NP_001265272.1:n.*27C>A
NM_001103.4:c.*27C>A MANE Select	NP_001094.1:n.*27C>A
NM_001278344.2:c.*27C>A	NP_001265273.1:n.*27C>A