Canonical Allele Identifier: CA345383787

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236747684-A-G
• MyVariant Identifiers: chr1:g.236910984A>G (hg19) ; chr1:g.236747684A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236747684A>G , CM000663.2:g.236747684A>G	GRCh38
NC_000001.10:g.236910984A>G , CM000663.1:g.236910984A>G	GRCh37
NC_000001.9:g.234977607A>G	NCBI36
NG_009081.1:g.66215A>G
NG_009081.2:g.88544A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1424A>G	ENSP00000443495.1:p.Asp475Gly
ENST00000492634.7:n.1354A>G
ENST00000682015.1:c.1331A>G	ENSP00000506961.1:p.Asp444Gly
ENST00000682692.1:n.1171A>G
ENST00000682966.1:n.7065A>G
ENST00000683111.1:c.*710A>G	ENSP00000507913.1:n.*710A>G
ENST00000683322.1:n.2776A>G
ENST00000684050.1:n.4062A>G
ENST00000684286.1:n.2979A>G
ENST00000684502.1:n.1373A>G
ENST00000366578.6:c.1424A>G MANE Select	ENSP00000355537.4:p.Asp475Gly
ENST00000492634.6:n.1354A>G
ENST00000542672.6:c.1424A>G	ENSP00000443495.1:p.Asp475Gly
ENST00000651091.1:c.1114A>G	ENSP00000498677.1:n.1114A>G
ENST00000651275.1:c.1316A>G	ENSP00000498926.1:p.Asp439Gly
ENST00000651781.1:c.504A>G
ENST00000651786.1:c.*796A>G	ENSP00000498364.1:n.*796A>G
ENST00000652096.1:c.*829A>G	ENSP00000498896.1:n.*829A>G
ENST00000366578.5:c.1424A>G	ENSP00000355537.4:p.Asp475Gly
ENST00000542672.5:c.1424A>G	ENSP00000443495.1:p.Asp475Gly
ENST00000546208.5:c.800A>G	ENSP00000438384.2:p.Asp267Gly
NM_001103.3:c.1424A>G	NP_001094.1:p.Asp475Gly
NM_001278343.1:c.1424A>G	NP_001265272.1:p.Asp475Gly
NM_001278344.1:c.800A>G	NP_001265273.1:p.Asp267Gly
NM_001278343.2:c.1424A>G	NP_001265272.1:p.Asp475Gly
NM_001103.4:c.1424A>G MANE Select	NP_001094.1:p.Asp475Gly
NM_001278344.2:c.800A>G	NP_001265273.1:p.Asp267Gly