Canonical Allele Identifier: CA2573132077

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 1520510
• ClinVar RCV Id: RCV002030803
• dbSNP Id: rs2102943983

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755077_236755080dup , CM000663.2:g.236755077_236755080dup	GRCh38
NC_000001.10:g.236918377_236918380dup , CM000663.1:g.236918377_236918380dup	GRCh37
NC_000001.9:g.234985000_234985003dup	NCBI36
NG_009081.1:g.73608_73611dup
NG_009081.2:g.95937_95940dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2033_2036dup	ENSP00000443495.1:p.Lys679AsnfsTer5
ENST00000461367.2:n.329_332dup
ENST00000492634.7:n.1963_1966dup
ENST00000682015.1:c.1940_1943dup	ENSP00000506961.1:p.Lys648AsnfsTer5
ENST00000682692.1:n.3128_3131dup
ENST00000682966.1:n.7674_7677dup
ENST00000683111.1:c.*1319_*1322dup	ENSP00000507913.1:n.*1319_*1322dup
ENST00000683322.1:n.3385_3388dup
ENST00000683805.1:n.824_827dup
ENST00000684050.1:n.4671_4674dup
ENST00000684122.1:n.180_183dup
ENST00000684286.1:n.3588_3591dup
ENST00000684502.1:n.3330_3333dup
ENST00000684763.1:n.648_651dup
ENST00000366578.6:c.2033_2036dup MANE Select	ENSP00000355537.4:p.Lys679AsnfsTer5
ENST00000492634.6:n.1963_1966dup
ENST00000542672.6:c.2033_2036dup	ENSP00000443495.1:p.Lys679AsnfsTer5
ENST00000651091.1:c.1723_1726dup	ENSP00000498677.1:n.1723_1726dup
ENST00000651275.1:c.1925_1928dup	ENSP00000498926.1:p.Lys643AsnfsTer5
ENST00000651781.1:c.1113_1116dup
ENST00000651786.1:c.*1405_*1408dup	ENSP00000498364.1:n.*1405_*1408dup
ENST00000652096.1:c.*1438_*1441dup	ENSP00000498896.1:n.*1438_*1441dup
ENST00000366578.5:c.2033_2036dup	ENSP00000355537.4:p.Lys679AsnfsTer5
ENST00000461367.1:n.242_245dup
ENST00000542672.5:c.2033_2036dup	ENSP00000443495.1:p.Lys679AsnfsTer5
ENST00000546208.5:c.1409_1412dup	ENSP00000438384.2:p.Lys471AsnfsTer5
NM_001103.3:c.2033_2036dup	NP_001094.1:p.Lys679AsnfsTer5
NM_001278343.1:c.2033_2036dup	NP_001265272.1:p.Lys679AsnfsTer5
NM_001278344.1:c.1409_1412dup	NP_001265273.1:p.Lys471AsnfsTer5
NM_001278343.2:c.2033_2036dup	NP_001265272.1:p.Lys679AsnfsTer5
NM_001103.4:c.2033_2036dup MANE Select	NP_001094.1:p.Lys679AsnfsTer5
NM_001278344.2:c.1409_1412dup	NP_001265273.1:p.Lys471AsnfsTer5