Canonical Allele Identifier: CA2586968531

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754025_236754031del , CM000663.2:g.236754025_236754031del	GRCh38
NC_000001.10:g.236917325_236917331del , CM000663.1:g.236917325_236917331del	GRCh37
NC_000001.9:g.234983948_234983954del	NCBI36
NG_009081.1:g.72556_72562del
NG_009081.2:g.94885_94891del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1918_1924del	ENSP00000443495.1:p.Arg640LeufsTer?
ENST00000461367.2:n.214_220del
ENST00000492634.7:n.1848_1854del
ENST00000682015.1:c.1825_1831del	ENSP00000506961.1:p.Arg609LeufsTer?
ENST00000682692.1:n.3013_3019del
ENST00000682966.1:n.7559_7565del
ENST00000683111.1:c.*1204_*1210del	ENSP00000507913.1:n.*1204_*1210del
ENST00000683322.1:n.3270_3276del
ENST00000684050.1:n.4556_4562del
ENST00000684286.1:n.3473_3479del
ENST00000684502.1:n.3215_3221del
ENST00000684763.1:n.533_539del
ENST00000366578.6:c.1918_1924del MANE Select	ENSP00000355537.4:p.Arg640LeufsTer?
ENST00000492634.6:n.1848_1854del
ENST00000542672.6:c.1918_1924del	ENSP00000443495.1:p.Arg640LeufsTer?
ENST00000651091.1:c.1608_1614del	ENSP00000498677.1:n.1608_1614del
ENST00000651275.1:c.1810_1816del	ENSP00000498926.1:p.Arg604LeufsTer?
ENST00000651781.1:c.998_1004del
ENST00000651786.1:c.*1290_*1296del	ENSP00000498364.1:n.*1290_*1296del
ENST00000652096.1:c.*1323_*1329del	ENSP00000498896.1:n.*1323_*1329del
ENST00000366578.5:c.1918_1924del	ENSP00000355537.4:p.Arg640LeufsTer?
ENST00000461367.1:n.127_133del
ENST00000542672.5:c.1918_1924del	ENSP00000443495.1:p.Arg640LeufsTer?
ENST00000546208.5:c.1294_1300del	ENSP00000438384.2:p.Arg432LeufsTer?
NM_001103.3:c.1918_1924del	NP_001094.1:p.Arg640LeufsTer?
NM_001278343.1:c.1918_1924del	NP_001265272.1:p.Arg640LeufsTer?
NM_001278344.1:c.1294_1300del	NP_001265273.1:p.Arg432LeufsTer?
NM_001278343.2:c.1918_1924del	NP_001265272.1:p.Arg640LeufsTer?
NM_001103.4:c.1918_1924del MANE Select	NP_001094.1:p.Arg640LeufsTer?
NM_001278344.2:c.1294_1300del	NP_001265273.1:p.Arg432LeufsTer?