Canonical Allele Identifier: CA345387145

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236917380A>T (hg19) ; chr1:g.236754080A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754080A>T , CM000663.2:g.236754080A>T	GRCh38
NC_000001.10:g.236917380A>T , CM000663.1:g.236917380A>T	GRCh37
NC_000001.9:g.234984003A>T	NCBI36
NG_009081.1:g.72611A>T
NG_009081.2:g.94940A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1973A>T	ENSP00000443495.1:p.Glu658Val
ENST00000461367.2:n.269A>T
ENST00000492634.7:n.1903A>T
ENST00000682015.1:c.1880A>T	ENSP00000506961.1:p.Glu627Val
ENST00000682692.1:n.3068A>T
ENST00000682966.1:n.7614A>T
ENST00000683111.1:c.*1259A>T	ENSP00000507913.1:n.*1259A>T
ENST00000683322.1:n.3325A>T
ENST00000684050.1:n.4611A>T
ENST00000684286.1:n.3528A>T
ENST00000684502.1:n.3270A>T
ENST00000684763.1:n.588A>T
ENST00000366578.6:c.1973A>T MANE Select	ENSP00000355537.4:p.Glu658Val
ENST00000492634.6:n.1903A>T
ENST00000542672.6:c.1973A>T	ENSP00000443495.1:p.Glu658Val
ENST00000651091.1:c.1663A>T	ENSP00000498677.1:n.1663A>T
ENST00000651275.1:c.1865A>T	ENSP00000498926.1:p.Glu622Val
ENST00000651781.1:c.1053A>T
ENST00000651786.1:c.*1345A>T	ENSP00000498364.1:n.*1345A>T
ENST00000652096.1:c.*1378A>T	ENSP00000498896.1:n.*1378A>T
ENST00000366578.5:c.1973A>T	ENSP00000355537.4:p.Glu658Val
ENST00000461367.1:n.182A>T
ENST00000542672.5:c.1973A>T	ENSP00000443495.1:p.Glu658Val
ENST00000546208.5:c.1349A>T	ENSP00000438384.2:p.Glu450Val
NM_001103.3:c.1973A>T	NP_001094.1:p.Glu658Val
NM_001278343.1:c.1973A>T	NP_001265272.1:p.Glu658Val
NM_001278344.1:c.1349A>T	NP_001265273.1:p.Glu450Val
NM_001278343.2:c.1973A>T	NP_001265272.1:p.Glu658Val
NM_001103.4:c.1973A>T MANE Select	NP_001094.1:p.Glu658Val
NM_001278344.2:c.1349A>T	NP_001265273.1:p.Glu450Val