Canonical Allele Identifier: CA345392209

Gene: ACTN2

Linked Data

• dbSNP Id: rs769940120
• gnomAD v4: 1-236762507-A-G
• MyVariant Identifiers: chr1:g.236925807A>G (hg19) ; chr1:g.236762507A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762507A>G , CM000663.2:g.236762507A>G	GRCh38
NC_000001.10:g.236925807A>G , CM000663.1:g.236925807A>G	GRCh37
NC_000001.9:g.234992430A>G	NCBI36
NG_009081.1:g.81038A>G
NG_009081.2:g.103367A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2573A>G	ENSP00000443495.1:p.Gln858Arg
ENST00000461367.2:n.869A>G
ENST00000492634.7:n.2503A>G
ENST00000682015.1:c.2480A>G	ENSP00000506961.1:p.Gln827Arg
ENST00000682490.1:n.491A>G
ENST00000682692.1:n.3668A>G
ENST00000682966.1:n.8214A>G
ENST00000683111.1:c.*1859A>G	ENSP00000507913.1:n.*1859A>G
ENST00000683322.1:n.3925A>G
ENST00000683805.1:n.1364A>G
ENST00000684050.1:n.5211A>G
ENST00000684122.1:n.2007A>G
ENST00000684286.1:n.4128A>G
ENST00000684502.1:n.3870A>G
ENST00000684763.1:n.1188A>G
ENST00000366578.6:c.2573A>G MANE Select	ENSP00000355537.4:p.Gln858Arg
ENST00000492634.6:n.2503A>G
ENST00000542672.6:c.2573A>G	ENSP00000443495.1:p.Gln858Arg
ENST00000651091.1:c.2263A>G	ENSP00000498677.1:n.2263A>G
ENST00000651275.1:c.2465A>G	ENSP00000498926.1:p.Gln822Arg
ENST00000651781.1:c.1653A>G
ENST00000651786.1:c.*1945A>G	ENSP00000498364.1:n.*1945A>G
ENST00000652096.1:c.*1978A>G	ENSP00000498896.1:n.*1978A>G
ENST00000366578.5:c.2573A>G	ENSP00000355537.4:p.Gln858Arg
ENST00000461367.1:n.782A>G
ENST00000542672.5:c.2573A>G	ENSP00000443495.1:p.Gln858Arg
ENST00000546208.5:c.1949A>G	ENSP00000438384.2:p.Gln650Arg
NM_001103.3:c.2573A>G	NP_001094.1:p.Gln858Arg
NM_001278343.1:c.2573A>G	NP_001265272.1:p.Gln858Arg
NM_001278344.1:c.1949A>G	NP_001265273.1:p.Gln650Arg
NM_001278343.2:c.2573A>G	NP_001265272.1:p.Gln858Arg
NM_001103.4:c.2573A>G MANE Select	NP_001094.1:p.Gln858Arg
NM_001278344.2:c.1949A>G	NP_001265273.1:p.Gln650Arg