Canonical Allele Identifier: CA39741779

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 1785131
• ClinVar RCV Id: RCV002421880 ; RCV003098584
• dbSNP Id: rs534607483
• gnomAD v3: 1-236755100-A-G
• gnomAD v4: 1-236755100-A-G
• MyVariant Identifiers: chr1:g.236918400A>G (hg19) ; chr1:g.236755100A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755100A>G , CM000663.2:g.236755100A>G	GRCh38
NC_000001.10:g.236918400A>G , CM000663.1:g.236918400A>G	GRCh37
NC_000001.9:g.234985023A>G	NCBI36
NG_009081.1:g.73631A>G
NG_009081.2:g.95960A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2056A>G	ENSP00000443495.1:p.Ile686Val
ENST00000461367.2:n.352A>G
ENST00000492634.7:n.1986A>G
ENST00000682015.1:c.1963A>G	ENSP00000506961.1:p.Ile655Val
ENST00000682692.1:n.3151A>G
ENST00000682966.1:n.7697A>G
ENST00000683111.1:c.*1342A>G	ENSP00000507913.1:n.*1342A>G
ENST00000683322.1:n.3408A>G
ENST00000683805.1:n.847A>G
ENST00000684050.1:n.4694A>G
ENST00000684122.1:n.203A>G
ENST00000684286.1:n.3611A>G
ENST00000684502.1:n.3353A>G
ENST00000684763.1:n.671A>G
ENST00000366578.6:c.2056A>G MANE Select	ENSP00000355537.4:p.Ile686Val
ENST00000492634.6:n.1986A>G
ENST00000542672.6:c.2056A>G	ENSP00000443495.1:p.Ile686Val
ENST00000651091.1:c.1746A>G	ENSP00000498677.1:n.1746A>G
ENST00000651275.1:c.1948A>G	ENSP00000498926.1:p.Ile650Val
ENST00000651781.1:c.1136A>G
ENST00000651786.1:c.*1428A>G	ENSP00000498364.1:n.*1428A>G
ENST00000652096.1:c.*1461A>G	ENSP00000498896.1:n.*1461A>G
ENST00000366578.5:c.2056A>G	ENSP00000355537.4:p.Ile686Val
ENST00000461367.1:n.265A>G
ENST00000542672.5:c.2056A>G	ENSP00000443495.1:p.Ile686Val
ENST00000546208.5:c.1432A>G	ENSP00000438384.2:p.Ile478Val
NM_001103.3:c.2056A>G	NP_001094.1:p.Ile686Val
NM_001278343.1:c.2056A>G	NP_001265272.1:p.Ile686Val
NM_001278344.1:c.1432A>G	NP_001265273.1:p.Ile478Val
NM_001278343.2:c.2056A>G	NP_001265272.1:p.Ile686Val
NM_001103.4:c.2056A>G MANE Select	NP_001094.1:p.Ile686Val
NM_001278344.2:c.1432A>G	NP_001265273.1:p.Ile478Val