Canonical Allele Identifier: CA345392542

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 1316113
• ClinVar RCV Id: RCV001757560 ; RCV002458597 ; RCV001868678 ; RCV002488614
• dbSNP Id: rs1270659015
• gnomAD v2: 1-236925866-G-A
• gnomAD v3: 1-236762566-G-A
• gnomAD v4: 1-236762566-G-A
• MyVariant Identifiers: chr1:g.236925866G>A (hg19) ; chr1:g.236762566G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762566G>A , CM000663.2:g.236762566G>A	GRCh38
NC_000001.10:g.236925866G>A , CM000663.1:g.236925866G>A	GRCh37
NC_000001.9:g.234992489G>A	NCBI36
NG_009081.1:g.81097G>A
NG_009081.2:g.103426G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2632G>A	ENSP00000443495.1:p.Ala878Thr
ENST00000461367.2:n.928G>A
ENST00000492634.7:n.2562G>A
ENST00000682015.1:c.2539G>A	ENSP00000506961.1:p.Ala847Thr
ENST00000682490.1:n.550G>A
ENST00000682692.1:n.3727G>A
ENST00000682966.1:n.8273G>A
ENST00000683111.1:c.*1918G>A	ENSP00000507913.1:n.*1918G>A
ENST00000683322.1:n.3984G>A
ENST00000683805.1:n.1423G>A
ENST00000684050.1:n.5270G>A
ENST00000684122.1:n.2066G>A
ENST00000684286.1:n.4187G>A
ENST00000684502.1:n.3929G>A
ENST00000684763.1:n.1247G>A
ENST00000366578.6:c.2632G>A MANE Select	ENSP00000355537.4:p.Ala878Thr
ENST00000492634.6:n.2562G>A
ENST00000542672.6:c.2632G>A	ENSP00000443495.1:p.Ala878Thr
ENST00000651091.1:c.2322G>A	ENSP00000498677.1:n.2322G>A
ENST00000651275.1:c.2524G>A	ENSP00000498926.1:p.Ala842Thr
ENST00000651781.1:c.1712G>A
ENST00000651786.1:c.*2004G>A	ENSP00000498364.1:n.*2004G>A
ENST00000652096.1:c.*2037G>A	ENSP00000498896.1:n.*2037G>A
ENST00000366578.5:c.2632G>A	ENSP00000355537.4:p.Ala878Thr
ENST00000461367.1:n.841G>A
ENST00000542672.5:c.2632G>A	ENSP00000443495.1:p.Ala878Thr
ENST00000546208.5:c.2008G>A	ENSP00000438384.2:p.Ala670Thr
NM_001103.3:c.2632G>A	NP_001094.1:p.Ala878Thr
NM_001278343.1:c.2632G>A	NP_001265272.1:p.Ala878Thr
NM_001278344.1:c.2008G>A	NP_001265273.1:p.Ala670Thr
NM_001278343.2:c.2632G>A	NP_001265272.1:p.Ala878Thr
NM_001103.4:c.2632G>A MANE Select	NP_001094.1:p.Ala878Thr
NM_001278344.2:c.2008G>A	NP_001265273.1:p.Ala670Thr