Canonical Allele Identifier: CA2487050336

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755095_236755098delinsACAT , CM000663.2:g.236755095_236755098delinsACAT	GRCh38
NC_000001.10:g.236918395_236918398delinsACAT , CM000663.1:g.236918395_236918398delinsACAT	GRCh37
NC_000001.9:g.234985018_234985021delinsACAT	NCBI36
NG_009081.1:g.73626_73629delinsACAT
NG_009081.2:g.95955_95958delinsACAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2051_2054delinsACAT	ENSP00000443495.1:p.Asn684=
ENST00000461367.2:n.347_350delinsACAT
ENST00000492634.7:n.1981_1984delinsACAT
ENST00000682015.1:c.1958_1961delinsACAT	ENSP00000506961.1:p.Asn653=
ENST00000682692.1:n.3146_3149delinsACAT
ENST00000682966.1:n.7692_7695delinsACAT
ENST00000683111.1:c.*1337_*1340delinsACAT	ENSP00000507913.1:n.*1337_*1340delinsACAT...
ENST00000683322.1:n.3403_3406delinsACAT
ENST00000683805.1:n.842_845delinsACAT
ENST00000684050.1:n.4689_4692delinsACAT
ENST00000684122.1:n.198_201delinsACAT
ENST00000684286.1:n.3606_3609delinsACAT
ENST00000684502.1:n.3348_3351delinsACAT
ENST00000684763.1:n.666_669delinsACAT
ENST00000366578.6:c.2051_2054delinsACAT MANE Select	ENSP00000355537.4:p.Asn684=
ENST00000492634.6:n.1981_1984delinsACAT
ENST00000542672.6:c.2051_2054delinsACAT	ENSP00000443495.1:p.Asn684=
ENST00000651091.1:c.1741_1744delinsACAT	ENSP00000498677.1:n.1741_1744delinsACAT
ENST00000651275.1:c.1943_1946delinsACAT	ENSP00000498926.1:p.Asn648=
ENST00000651781.1:c.1131_1134delinsACAT
ENST00000651786.1:c.*1423_*1426delinsACAT	ENSP00000498364.1:n.*1423_*1426delinsACAT...
ENST00000652096.1:c.*1456_*1459delinsACAT	ENSP00000498896.1:n.*1456_*1459delinsACAT...
ENST00000366578.5:c.2051_2054delinsACAT	ENSP00000355537.4:p.Asn684=
ENST00000461367.1:n.260_263delinsACAT
ENST00000542672.5:c.2051_2054delinsACAT	ENSP00000443495.1:p.Asn684=
ENST00000546208.5:c.1427_1430delinsACAT	ENSP00000438384.2:p.Asn476=
NM_001103.3:c.2051_2054delinsACAT	NP_001094.1:p.Asn684=
NM_001278343.1:c.2051_2054delinsACAT	NP_001265272.1:p.Asn684=
NM_001278344.1:c.1427_1430delinsACAT	NP_001265273.1:p.Asn476=
NM_001278343.2:c.2051_2054delinsACAT	NP_001265272.1:p.Asn684=
NM_001103.4:c.2051_2054delinsACAT MANE Select	NP_001094.1:p.Asn684=
NM_001278344.2:c.1427_1430delinsACAT	NP_001265273.1:p.Asn476=