Canonical Allele Identifier: CA345392399

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925841C>A (hg19) ; chr1:g.236762541C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762541C>A , CM000663.2:g.236762541C>A	GRCh38
NC_000001.10:g.236925841C>A , CM000663.1:g.236925841C>A	GRCh37
NC_000001.9:g.234992464C>A	NCBI36
NG_009081.1:g.81072C>A
NG_009081.2:g.103401C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2607C>A	ENSP00000443495.1:p.Tyr869Ter
ENST00000461367.2:n.903C>A
ENST00000492634.7:n.2537C>A
ENST00000682015.1:c.2514C>A	ENSP00000506961.1:p.Tyr838Ter
ENST00000682490.1:n.525C>A
ENST00000682692.1:n.3702C>A
ENST00000682966.1:n.8248C>A
ENST00000683111.1:c.*1893C>A	ENSP00000507913.1:n.*1893C>A
ENST00000683322.1:n.3959C>A
ENST00000683805.1:n.1398C>A
ENST00000684050.1:n.5245C>A
ENST00000684122.1:n.2041C>A
ENST00000684286.1:n.4162C>A
ENST00000684502.1:n.3904C>A
ENST00000684763.1:n.1222C>A
ENST00000366578.6:c.2607C>A MANE Select	ENSP00000355537.4:p.Tyr869Ter
ENST00000492634.6:n.2537C>A
ENST00000542672.6:c.2607C>A	ENSP00000443495.1:p.Tyr869Ter
ENST00000651091.1:c.2297C>A	ENSP00000498677.1:n.2297C>A
ENST00000651275.1:c.2499C>A	ENSP00000498926.1:p.Tyr833Ter
ENST00000651781.1:c.1687C>A
ENST00000651786.1:c.*1979C>A	ENSP00000498364.1:n.*1979C>A
ENST00000652096.1:c.*2012C>A	ENSP00000498896.1:n.*2012C>A
ENST00000366578.5:c.2607C>A	ENSP00000355537.4:p.Tyr869Ter
ENST00000461367.1:n.816C>A
ENST00000542672.5:c.2607C>A	ENSP00000443495.1:p.Tyr869Ter
ENST00000546208.5:c.1983C>A	ENSP00000438384.2:p.Tyr661Ter
NM_001103.3:c.2607C>A	NP_001094.1:p.Tyr869Ter
NM_001278343.1:c.2607C>A	NP_001265272.1:p.Tyr869Ter
NM_001278344.1:c.1983C>A	NP_001265273.1:p.Tyr661Ter
NM_001278343.2:c.2607C>A	NP_001265272.1:p.Tyr869Ter
NM_001103.4:c.2607C>A MANE Select	NP_001094.1:p.Tyr869Ter
NM_001278344.2:c.1983C>A	NP_001265273.1:p.Tyr661Ter