Canonical Allele Identifier: CA345388707

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236920813C>A (hg19) ; chr1:g.236757513C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236757513C>A , CM000663.2:g.236757513C>A	GRCh38
NC_000001.10:g.236920813C>A , CM000663.1:g.236920813C>A	GRCh37
NC_000001.9:g.234987436C>A	NCBI36
NG_009081.1:g.76044C>A
NG_009081.2:g.98373C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2182C>A	ENSP00000443495.1:p.Leu728Met
ENST00000461367.2:n.478C>A
ENST00000492634.7:n.2112C>A
ENST00000682015.1:c.2089C>A	ENSP00000506961.1:p.Leu697Met
ENST00000682490.1:n.100C>A
ENST00000682692.1:n.3277C>A
ENST00000682966.1:n.7823C>A
ENST00000683111.1:c.*1468C>A	ENSP00000507913.1:n.*1468C>A
ENST00000683322.1:n.3534C>A
ENST00000683805.1:n.973C>A
ENST00000684050.1:n.4820C>A
ENST00000684122.1:n.329C>A
ENST00000684286.1:n.3737C>A
ENST00000684502.1:n.3479C>A
ENST00000684763.1:n.797C>A
ENST00000366578.6:c.2182C>A MANE Select	ENSP00000355537.4:p.Leu728Met
ENST00000492634.6:n.2112C>A
ENST00000542672.6:c.2182C>A	ENSP00000443495.1:p.Leu728Met
ENST00000651091.1:c.1872C>A	ENSP00000498677.1:n.1872C>A
ENST00000651275.1:c.2074C>A	ENSP00000498926.1:p.Leu692Met
ENST00000651781.1:c.1262C>A
ENST00000651786.1:c.*1554C>A	ENSP00000498364.1:n.*1554C>A
ENST00000652096.1:c.*1587C>A	ENSP00000498896.1:n.*1587C>A
ENST00000366578.5:c.2182C>A	ENSP00000355537.4:p.Leu728Met
ENST00000461367.1:n.391C>A
ENST00000542672.5:c.2182C>A	ENSP00000443495.1:p.Leu728Met
ENST00000546208.5:c.1558C>A	ENSP00000438384.2:p.Leu520Met
NM_001103.3:c.2182C>A	NP_001094.1:p.Leu728Met
NM_001278343.1:c.2182C>A	NP_001265272.1:p.Leu728Met
NM_001278344.1:c.1558C>A	NP_001265273.1:p.Leu520Met
NM_001278343.2:c.2182C>A	NP_001265272.1:p.Leu728Met
NM_001103.4:c.2182C>A MANE Select	NP_001094.1:p.Leu728Met
NM_001278344.2:c.1558C>A	NP_001265273.1:p.Leu520Met