Canonical Allele Identifier: CA345387085

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 2116799
• ClinVar RCV Id: RCV003035186
• MyVariant Identifiers: chr1:g.236917368A>G (hg19) ; chr1:g.236754068A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754068A>G , CM000663.2:g.236754068A>G	GRCh38
NC_000001.10:g.236917368A>G , CM000663.1:g.236917368A>G	GRCh37
NC_000001.9:g.234983991A>G	NCBI36
NG_009081.1:g.72599A>G
NG_009081.2:g.94928A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1961A>G	ENSP00000443495.1:p.Gln654Arg
ENST00000461367.2:n.257A>G
ENST00000492634.7:n.1891A>G
ENST00000682015.1:c.1868A>G	ENSP00000506961.1:p.Gln623Arg
ENST00000682692.1:n.3056A>G
ENST00000682966.1:n.7602A>G
ENST00000683111.1:c.*1247A>G	ENSP00000507913.1:n.*1247A>G
ENST00000683322.1:n.3313A>G
ENST00000684050.1:n.4599A>G
ENST00000684286.1:n.3516A>G
ENST00000684502.1:n.3258A>G
ENST00000684763.1:n.576A>G
ENST00000366578.6:c.1961A>G MANE Select	ENSP00000355537.4:p.Gln654Arg
ENST00000492634.6:n.1891A>G
ENST00000542672.6:c.1961A>G	ENSP00000443495.1:p.Gln654Arg
ENST00000651091.1:c.1651A>G	ENSP00000498677.1:n.1651A>G
ENST00000651275.1:c.1853A>G	ENSP00000498926.1:p.Gln618Arg
ENST00000651781.1:c.1041A>G
ENST00000651786.1:c.*1333A>G	ENSP00000498364.1:n.*1333A>G
ENST00000652096.1:c.*1366A>G	ENSP00000498896.1:n.*1366A>G
ENST00000366578.5:c.1961A>G	ENSP00000355537.4:p.Gln654Arg
ENST00000461367.1:n.170A>G
ENST00000542672.5:c.1961A>G	ENSP00000443495.1:p.Gln654Arg
ENST00000546208.5:c.1337A>G	ENSP00000438384.2:p.Gln446Arg
NM_001103.3:c.1961A>G	NP_001094.1:p.Gln654Arg
NM_001278343.1:c.1961A>G	NP_001265272.1:p.Gln654Arg
NM_001278344.1:c.1337A>G	NP_001265273.1:p.Gln446Arg
NM_001278343.2:c.1961A>G	NP_001265272.1:p.Gln654Arg
NM_001103.4:c.1961A>G MANE Select	NP_001094.1:p.Gln654Arg
NM_001278344.2:c.1337A>G	NP_001265273.1:p.Gln446Arg