Canonical Allele Identifier: CA1473287

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 1466629
• ClinVar RCV Id: RCV001959555 ; RCV003481226 ; RCV004044592
• dbSNP Id: rs759422747
• ExAC: 1:236917352 A / G
• gnomAD v2: 1-236917352-A-G
• gnomAD v3: 1-236754052-A-G
• gnomAD v4: 1-236754052-A-G
• MyVariant Identifiers: chr1:g.236917352A>G (hg19) ; chr1:g.236754052A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754052A>G , CM000663.2:g.236754052A>G	GRCh38
NC_000001.10:g.236917352A>G , CM000663.1:g.236917352A>G	GRCh37
NC_000001.9:g.234983975A>G	NCBI36
NG_009081.1:g.72583A>G
NG_009081.2:g.94912A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1945A>G	ENSP00000443495.1:p.Ile649Val
ENST00000461367.2:n.241A>G
ENST00000492634.7:n.1875A>G
ENST00000682015.1:c.1852A>G	ENSP00000506961.1:p.Ile618Val
ENST00000682692.1:n.3040A>G
ENST00000682966.1:n.7586A>G
ENST00000683111.1:c.*1231A>G	ENSP00000507913.1:n.*1231A>G
ENST00000683322.1:n.3297A>G
ENST00000684050.1:n.4583A>G
ENST00000684286.1:n.3500A>G
ENST00000684502.1:n.3242A>G
ENST00000684763.1:n.560A>G
ENST00000366578.6:c.1945A>G MANE Select	ENSP00000355537.4:p.Ile649Val
ENST00000492634.6:n.1875A>G
ENST00000542672.6:c.1945A>G	ENSP00000443495.1:p.Ile649Val
ENST00000651091.1:c.1635A>G	ENSP00000498677.1:n.1635A>G
ENST00000651275.1:c.1837A>G	ENSP00000498926.1:p.Ile613Val
ENST00000651781.1:c.1025A>G
ENST00000651786.1:c.*1317A>G	ENSP00000498364.1:n.*1317A>G
ENST00000652096.1:c.*1350A>G	ENSP00000498896.1:n.*1350A>G
ENST00000366578.5:c.1945A>G	ENSP00000355537.4:p.Ile649Val
ENST00000461367.1:n.154A>G
ENST00000542672.5:c.1945A>G	ENSP00000443495.1:p.Ile649Val
ENST00000546208.5:c.1321A>G	ENSP00000438384.2:p.Ile441Val
NM_001103.3:c.1945A>G	NP_001094.1:p.Ile649Val
NM_001278343.1:c.1945A>G	NP_001265272.1:p.Ile649Val
NM_001278344.1:c.1321A>G	NP_001265273.1:p.Ile441Val
NM_001278343.2:c.1945A>G	NP_001265272.1:p.Ile649Val
NM_001103.4:c.1945A>G MANE Select	NP_001094.1:p.Ile649Val
NM_001278344.2:c.1321A>G	NP_001265273.1:p.Ile441Val