Canonical Allele Identifier: CA345392395

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 2934762
• ClinVar RCV Id: RCV003798464
• MyVariant Identifiers: chr1:g.236925840A>G (hg19) ; chr1:g.236762540A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762540A>G , CM000663.2:g.236762540A>G	GRCh38
NC_000001.10:g.236925840A>G , CM000663.1:g.236925840A>G	GRCh37
NC_000001.9:g.234992463A>G	NCBI36
NG_009081.1:g.81071A>G
NG_009081.2:g.103400A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2606A>G	ENSP00000443495.1:p.Tyr869Cys
ENST00000461367.2:n.902A>G
ENST00000492634.7:n.2536A>G
ENST00000682015.1:c.2513A>G	ENSP00000506961.1:p.Tyr838Cys
ENST00000682490.1:n.524A>G
ENST00000682692.1:n.3701A>G
ENST00000682966.1:n.8247A>G
ENST00000683111.1:c.*1892A>G	ENSP00000507913.1:n.*1892A>G
ENST00000683322.1:n.3958A>G
ENST00000683805.1:n.1397A>G
ENST00000684050.1:n.5244A>G
ENST00000684122.1:n.2040A>G
ENST00000684286.1:n.4161A>G
ENST00000684502.1:n.3903A>G
ENST00000684763.1:n.1221A>G
ENST00000366578.6:c.2606A>G MANE Select	ENSP00000355537.4:p.Tyr869Cys
ENST00000492634.6:n.2536A>G
ENST00000542672.6:c.2606A>G	ENSP00000443495.1:p.Tyr869Cys
ENST00000651091.1:c.2296A>G	ENSP00000498677.1:n.2296A>G
ENST00000651275.1:c.2498A>G	ENSP00000498926.1:p.Tyr833Cys
ENST00000651781.1:c.1686A>G
ENST00000651786.1:c.*1978A>G	ENSP00000498364.1:n.*1978A>G
ENST00000652096.1:c.*2011A>G	ENSP00000498896.1:n.*2011A>G
ENST00000366578.5:c.2606A>G	ENSP00000355537.4:p.Tyr869Cys
ENST00000461367.1:n.815A>G
ENST00000542672.5:c.2606A>G	ENSP00000443495.1:p.Tyr869Cys
ENST00000546208.5:c.1982A>G	ENSP00000438384.2:p.Tyr661Cys
NM_001103.3:c.2606A>G	NP_001094.1:p.Tyr869Cys
NM_001278343.1:c.2606A>G	NP_001265272.1:p.Tyr869Cys
NM_001278344.1:c.1982A>G	NP_001265273.1:p.Tyr661Cys
NM_001278343.2:c.2606A>G	NP_001265272.1:p.Tyr869Cys
NM_001103.4:c.2606A>G MANE Select	NP_001094.1:p.Tyr869Cys
NM_001278344.2:c.1982A>G	NP_001265273.1:p.Tyr661Cys