Canonical Allele Identifier: CA1473290

Gene: ACTN2

Linked Data

• dbSNP Id: rs549009790
• ExAC: 1:236917367 C / A
• gnomAD v2: 1-236917367-C-A
• gnomAD v3: 1-236754067-C-A
• gnomAD v4: 1-236754067-C-A
• MyVariant Identifiers: chr1:g.236917367C>A (hg19) ; chr1:g.236754067C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754067C>A , CM000663.2:g.236754067C>A	GRCh38
NC_000001.10:g.236917367C>A , CM000663.1:g.236917367C>A	GRCh37
NC_000001.9:g.234983990C>A	NCBI36
NG_009081.1:g.72598C>A
NG_009081.2:g.94927C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1960C>A	ENSP00000443495.1:p.Gln654Lys
ENST00000461367.2:n.256C>A
ENST00000492634.7:n.1890C>A
ENST00000682015.1:c.1867C>A	ENSP00000506961.1:p.Gln623Lys
ENST00000682692.1:n.3055C>A
ENST00000682966.1:n.7601C>A
ENST00000683111.1:c.*1246C>A	ENSP00000507913.1:n.*1246C>A
ENST00000683322.1:n.3312C>A
ENST00000684050.1:n.4598C>A
ENST00000684286.1:n.3515C>A
ENST00000684502.1:n.3257C>A
ENST00000684763.1:n.575C>A
ENST00000366578.6:c.1960C>A MANE Select	ENSP00000355537.4:p.Gln654Lys
ENST00000492634.6:n.1890C>A
ENST00000542672.6:c.1960C>A	ENSP00000443495.1:p.Gln654Lys
ENST00000651091.1:c.1650C>A	ENSP00000498677.1:n.1650C>A
ENST00000651275.1:c.1852C>A	ENSP00000498926.1:p.Gln618Lys
ENST00000651781.1:c.1040C>A
ENST00000651786.1:c.*1332C>A	ENSP00000498364.1:n.*1332C>A
ENST00000652096.1:c.*1365C>A	ENSP00000498896.1:n.*1365C>A
ENST00000366578.5:c.1960C>A	ENSP00000355537.4:p.Gln654Lys
ENST00000461367.1:n.169C>A
ENST00000542672.5:c.1960C>A	ENSP00000443495.1:p.Gln654Lys
ENST00000546208.5:c.1336C>A	ENSP00000438384.2:p.Gln446Lys
NM_001103.3:c.1960C>A	NP_001094.1:p.Gln654Lys
NM_001278343.1:c.1960C>A	NP_001265272.1:p.Gln654Lys
NM_001278344.1:c.1336C>A	NP_001265273.1:p.Gln446Lys
NM_001278343.2:c.1960C>A	NP_001265272.1:p.Gln654Lys
NM_001103.4:c.1960C>A MANE Select	NP_001094.1:p.Gln654Lys
NM_001278344.2:c.1336C>A	NP_001265273.1:p.Gln446Lys