Canonical Allele Identifier: CA345392675

Gene: ACTN2

Linked Data

• COSMIC: COSM425677 ; COSM5210161
• MyVariant Identifiers: chr1:g.236925894C>A (hg19) ; chr1:g.236762594C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762594C>A , CM000663.2:g.236762594C>A	GRCh38
NC_000001.10:g.236925894C>A , CM000663.1:g.236925894C>A	GRCh37
NC_000001.9:g.234992517C>A	NCBI36
NG_009081.1:g.81125C>A
NG_009081.2:g.103454C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2660C>A	ENSP00000443495.1:p.Ala887Glu
ENST00000461367.2:n.956C>A
ENST00000492634.7:n.2590C>A
ENST00000682015.1:c.2567C>A	ENSP00000506961.1:p.Ala856Glu
ENST00000682490.1:n.578C>A
ENST00000682692.1:n.3755C>A
ENST00000682966.1:n.8301C>A
ENST00000683111.1:c.*1946C>A	ENSP00000507913.1:n.*1946C>A
ENST00000683322.1:n.4012C>A
ENST00000683805.1:n.1451C>A
ENST00000684050.1:n.5298C>A
ENST00000684122.1:n.2094C>A
ENST00000684286.1:n.4215C>A
ENST00000684502.1:n.3957C>A
ENST00000684763.1:n.1275C>A
ENST00000366578.6:c.2660C>A MANE Select	ENSP00000355537.4:p.Ala887Glu
ENST00000492634.6:n.2590C>A
ENST00000542672.6:c.2660C>A	ENSP00000443495.1:p.Ala887Glu
ENST00000651091.1:c.2350C>A	ENSP00000498677.1:n.2350C>A
ENST00000651275.1:c.2552C>A	ENSP00000498926.1:p.Ala851Glu
ENST00000651781.1:c.1740C>A
ENST00000651786.1:c.*2032C>A	ENSP00000498364.1:n.*2032C>A
ENST00000652096.1:c.*2065C>A	ENSP00000498896.1:n.*2065C>A
ENST00000366578.5:c.2660C>A	ENSP00000355537.4:p.Ala887Glu
ENST00000542672.5:c.2660C>A	ENSP00000443495.1:p.Ala887Glu
ENST00000546208.5:c.2036C>A	ENSP00000438384.2:p.Ala679Glu
NM_001103.3:c.2660C>A	NP_001094.1:p.Ala887Glu
NM_001278343.1:c.2660C>A	NP_001265272.1:p.Ala887Glu
NM_001278344.1:c.2036C>A	NP_001265273.1:p.Ala679Glu
NM_001278343.2:c.2660C>A	NP_001265272.1:p.Ala887Glu
NM_001103.4:c.2660C>A MANE Select	NP_001094.1:p.Ala887Glu
NM_001278344.2:c.2036C>A	NP_001265273.1:p.Ala679Glu