Canonical Allele Identifier: CA345387539

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236918389A>G (hg19) ; chr1:g.236755089A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755089A>G , CM000663.2:g.236755089A>G	GRCh38
NC_000001.10:g.236918389A>G , CM000663.1:g.236918389A>G	GRCh37
NC_000001.9:g.234985012A>G	NCBI36
NG_009081.1:g.73620A>G
NG_009081.2:g.95949A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2045A>G	ENSP00000443495.1:p.Glu682Gly
ENST00000461367.2:n.341A>G
ENST00000492634.7:n.1975A>G
ENST00000682015.1:c.1952A>G	ENSP00000506961.1:p.Glu651Gly
ENST00000682692.1:n.3140A>G
ENST00000682966.1:n.7686A>G
ENST00000683111.1:c.*1331A>G	ENSP00000507913.1:n.*1331A>G
ENST00000683322.1:n.3397A>G
ENST00000683805.1:n.836A>G
ENST00000684050.1:n.4683A>G
ENST00000684122.1:n.192A>G
ENST00000684286.1:n.3600A>G
ENST00000684502.1:n.3342A>G
ENST00000684763.1:n.660A>G
ENST00000366578.6:c.2045A>G MANE Select	ENSP00000355537.4:p.Glu682Gly
ENST00000492634.6:n.1975A>G
ENST00000542672.6:c.2045A>G	ENSP00000443495.1:p.Glu682Gly
ENST00000651091.1:c.1735A>G	ENSP00000498677.1:n.1735A>G
ENST00000651275.1:c.1937A>G	ENSP00000498926.1:p.Glu646Gly
ENST00000651781.1:c.1125A>G
ENST00000651786.1:c.*1417A>G	ENSP00000498364.1:n.*1417A>G
ENST00000652096.1:c.*1450A>G	ENSP00000498896.1:n.*1450A>G
ENST00000366578.5:c.2045A>G	ENSP00000355537.4:p.Glu682Gly
ENST00000461367.1:n.254A>G
ENST00000542672.5:c.2045A>G	ENSP00000443495.1:p.Glu682Gly
ENST00000546208.5:c.1421A>G	ENSP00000438384.2:p.Glu474Gly
NM_001103.3:c.2045A>G	NP_001094.1:p.Glu682Gly
NM_001278343.1:c.2045A>G	NP_001265272.1:p.Glu682Gly
NM_001278344.1:c.1421A>G	NP_001265273.1:p.Glu474Gly
NM_001278343.2:c.2045A>G	NP_001265272.1:p.Glu682Gly
NM_001103.4:c.2045A>G MANE Select	NP_001094.1:p.Glu682Gly
NM_001278344.2:c.1421A>G	NP_001265273.1:p.Glu474Gly