Canonical Allele Identifier: CA1149135840

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755096_236755103delinsCATCATCA , CM000663.2:g.236755096_236755103delinsCATCATCA	GRCh38
NC_000001.10:g.236918396_236918403delinsCATCATCA , CM000663.1:g.236918396_236918403delinsCATCATCA	GRCh37
NC_000001.9:g.234985019_234985026delinsCATCATCA	NCBI36
NG_009081.1:g.73627_73634delinsCATCATCA
NG_009081.2:g.95956_95963delinsCATCATCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2052_2059delinsCATCATCA	ENSP00000443495.1:p.Asn684=
ENST00000461367.2:n.348_355delinsCATCATCA
ENST00000492634.7:n.1982_1989delinsCATCATCA
ENST00000682015.1:c.1959_1966delinsCATCATCA	ENSP00000506961.1:p.Asn653=
ENST00000682692.1:n.3147_3154delinsCATCATCA
ENST00000682966.1:n.7693_7700delinsCATCATCA
ENST00000683111.1:c.*1338_*1345delinsCATCATCA	ENSP00000507913.1:n.*1338_*1345delinsCATCATCA
ENST00000683322.1:n.3404_3411delinsCATCATCA
ENST00000683805.1:n.843_850delinsCATCATCA
ENST00000684050.1:n.4690_4697delinsCATCATCA
ENST00000684122.1:n.199_206delinsCATCATCA
ENST00000684286.1:n.3607_3614delinsCATCATCA
ENST00000684502.1:n.3349_3356delinsCATCATCA
ENST00000684763.1:n.667_674delinsCATCATCA
ENST00000366578.6:c.2052_2059delinsCATCATCA MANE Select	ENSP00000355537.4:p.Asn684=
ENST00000492634.6:n.1982_1989delinsCATCATCA
ENST00000542672.6:c.2052_2059delinsCATCATCA	ENSP00000443495.1:p.Asn684=
ENST00000651091.1:c.1742_1749delinsCATCATCA	ENSP00000498677.1:n.1742_1749delinsCATCATCA
ENST00000651275.1:c.1944_1951delinsCATCATCA	ENSP00000498926.1:p.Asn648=
ENST00000651781.1:c.1132_1139delinsCATCATCA
ENST00000651786.1:c.*1424_*1431delinsCATCATCA	ENSP00000498364.1:n.*1424_*1431delinsCATCATCA
ENST00000652096.1:c.*1457_*1464delinsCATCATCA	ENSP00000498896.1:n.*1457_*1464delinsCATCATCA
ENST00000366578.5:c.2052_2059delinsCATCATCA	ENSP00000355537.4:p.Asn684=
ENST00000461367.1:n.261_268delinsCATCATCA
ENST00000542672.5:c.2052_2059delinsCATCATCA	ENSP00000443495.1:p.Asn684=
ENST00000546208.5:c.1428_1435delinsCATCATCA	ENSP00000438384.2:p.Asn476=
NM_001103.3:c.2052_2059delinsCATCATCA	NP_001094.1:p.Asn684=
NM_001278343.1:c.2052_2059delinsCATCATCA	NP_001265272.1:p.Asn684=
NM_001278344.1:c.1428_1435delinsCATCATCA	NP_001265273.1:p.Asn476=
NM_001278343.2:c.2052_2059delinsCATCATCA	NP_001265272.1:p.Asn684=
NM_001103.4:c.2052_2059delinsCATCATCA MANE Select	NP_001094.1:p.Asn684=
NM_001278344.2:c.1428_1435delinsCATCATCA	NP_001265273.1:p.Asn476=