Canonical Allele Identifier: CA1473332

Gene: ACTN2

Linked Data

• dbSNP Id: rs576783493
• ExAC: 1:236918395 A / G
• gnomAD v2: 1-236918395-A-G
• gnomAD v3: 1-236755095-A-G
• gnomAD v4: 1-236755095-A-G
• MyVariant Identifiers: chr1:g.236918395A>G (hg19) ; chr1:g.236918395_236918398delinsGCAT (hg19) ; chr1:g.236755095A>G (hg38) ; chr1:g.236755095_236755098delinsGCAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755095A>G , CM000663.2:g.236755095A>G	GRCh38
NC_000001.10:g.236918395A>G , CM000663.1:g.236918395A>G	GRCh37
NC_000001.9:g.234985018A>G	NCBI36
NG_009081.1:g.73626A>G
NG_009081.2:g.95955A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2051A>G	ENSP00000443495.1:p.Asn684Ser
ENST00000461367.2:n.347A>G
ENST00000492634.7:n.1981A>G
ENST00000682015.1:c.1958A>G	ENSP00000506961.1:p.Asn653Ser
ENST00000682692.1:n.3146A>G
ENST00000682966.1:n.7692A>G
ENST00000683111.1:c.*1337A>G	ENSP00000507913.1:n.*1337A>G
ENST00000683322.1:n.3403A>G
ENST00000683805.1:n.842A>G
ENST00000684050.1:n.4689A>G
ENST00000684122.1:n.198A>G
ENST00000684286.1:n.3606A>G
ENST00000684502.1:n.3348A>G
ENST00000684763.1:n.666A>G
ENST00000366578.6:c.2051A>G MANE Select	ENSP00000355537.4:p.Asn684Ser
ENST00000492634.6:n.1981A>G
ENST00000542672.6:c.2051A>G	ENSP00000443495.1:p.Asn684Ser
ENST00000651091.1:c.1741A>G	ENSP00000498677.1:n.1741A>G
ENST00000651275.1:c.1943A>G	ENSP00000498926.1:p.Asn648Ser
ENST00000651781.1:c.1131A>G
ENST00000651786.1:c.*1423A>G	ENSP00000498364.1:n.*1423A>G
ENST00000652096.1:c.*1456A>G	ENSP00000498896.1:n.*1456A>G
ENST00000366578.5:c.2051A>G	ENSP00000355537.4:p.Asn684Ser
ENST00000461367.1:n.260A>G
ENST00000542672.5:c.2051A>G	ENSP00000443495.1:p.Asn684Ser
ENST00000546208.5:c.1427A>G	ENSP00000438384.2:p.Asn476Ser
NM_001103.3:c.2051A>G	NP_001094.1:p.Asn684Ser
NM_001278343.1:c.2051A>G	NP_001265272.1:p.Asn684Ser
NM_001278344.1:c.1427A>G	NP_001265273.1:p.Asn476Ser
NM_001278343.2:c.2051A>G	NP_001265272.1:p.Asn684Ser
NM_001103.4:c.2051A>G MANE Select	NP_001094.1:p.Asn684Ser
NM_001278344.2:c.1427A>G	NP_001265273.1:p.Asn476Ser