Canonical Allele Identifier: CA1473487

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 575734
• ClinVar RCV Id: RCV000698039 ; RCV002458266
• dbSNP Id: rs370569935
• ExAC: 1:236925774 C / T
• gnomAD v2: 1-236925774-C-T
• gnomAD v3: 1-236762474-C-T
• gnomAD v4: 1-236762474-C-T
• MyVariant Identifiers: chr1:g.236925774C>T (hg19) ; chr1:g.236762474C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762474C>T , CM000663.2:g.236762474C>T	GRCh38
NC_000001.10:g.236925774C>T , CM000663.1:g.236925774C>T	GRCh37
NC_000001.9:g.234992397C>T	NCBI36
NG_009081.1:g.81005C>T
NG_009081.2:g.103334C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2540C>T	ENSP00000443495.1:p.Ala847Val
ENST00000461367.2:n.836C>T
ENST00000492634.7:n.2470C>T
ENST00000682015.1:c.2447C>T	ENSP00000506961.1:p.Ala816Val
ENST00000682490.1:n.458C>T
ENST00000682692.1:n.3635C>T
ENST00000682966.1:n.8181C>T
ENST00000683111.1:c.*1826C>T	ENSP00000507913.1:n.*1826C>T
ENST00000683322.1:n.3892C>T
ENST00000683805.1:n.1331C>T
ENST00000684050.1:n.5178C>T
ENST00000684122.1:n.1974C>T
ENST00000684286.1:n.4095C>T
ENST00000684502.1:n.3837C>T
ENST00000684763.1:n.1155C>T
ENST00000366578.6:c.2540C>T MANE Select	ENSP00000355537.4:p.Ala847Val
ENST00000492634.6:n.2470C>T
ENST00000542672.6:c.2540C>T	ENSP00000443495.1:p.Ala847Val
ENST00000651091.1:c.2230C>T	ENSP00000498677.1:n.2230C>T
ENST00000651275.1:c.2432C>T	ENSP00000498926.1:p.Ala811Val
ENST00000651781.1:c.1620C>T
ENST00000651786.1:c.*1912C>T	ENSP00000498364.1:n.*1912C>T
ENST00000652096.1:c.*1945C>T	ENSP00000498896.1:n.*1945C>T
ENST00000366578.5:c.2540C>T	ENSP00000355537.4:p.Ala847Val
ENST00000461367.1:n.749C>T
ENST00000542672.5:c.2540C>T	ENSP00000443495.1:p.Ala847Val
ENST00000546208.5:c.1916C>T	ENSP00000438384.2:p.Ala639Val
NM_001103.3:c.2540C>T	NP_001094.1:p.Ala847Val
NM_001278343.1:c.2540C>T	NP_001265272.1:p.Ala847Val
NM_001278344.1:c.1916C>T	NP_001265273.1:p.Ala639Val
NM_001278343.2:c.2540C>T	NP_001265272.1:p.Ala847Val
NM_001103.4:c.2540C>T MANE Select	NP_001094.1:p.Ala847Val
NM_001278344.2:c.1916C>T	NP_001265273.1:p.Ala639Val