Canonical Allele Identifier: CA2748253826

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754061_236754063del , CM000663.2:g.236754061_236754063del	GRCh38
NC_000001.10:g.236917361_236917363del , CM000663.1:g.236917361_236917363del	GRCh37
NC_000001.9:g.234983984_234983986del	NCBI36
NG_009081.1:g.72592_72594del
NG_009081.2:g.94921_94923del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1954_1956del	ENSP00000443495.1:p.Trp652del
ENST00000461367.2:n.250_252del
ENST00000492634.7:n.1884_1886del
ENST00000682015.1:c.1861_1863del	ENSP00000506961.1:p.Trp621del
ENST00000682692.1:n.3049_3051del
ENST00000682966.1:n.7595_7597del
ENST00000683111.1:c.*1240_*1242del	ENSP00000507913.1:n.*1240_*1242del
ENST00000683322.1:n.3306_3308del
ENST00000684050.1:n.4592_4594del
ENST00000684286.1:n.3509_3511del
ENST00000684502.1:n.3251_3253del
ENST00000684763.1:n.569_571del
ENST00000366578.6:c.1954_1956del MANE Select	ENSP00000355537.4:p.Trp652del
ENST00000492634.6:n.1884_1886del
ENST00000542672.6:c.1954_1956del	ENSP00000443495.1:p.Trp652del
ENST00000651091.1:c.1644_1646del	ENSP00000498677.1:n.1644_1646del
ENST00000651275.1:c.1846_1848del	ENSP00000498926.1:p.Trp616del
ENST00000651781.1:c.1034_1036del
ENST00000651786.1:c.*1326_*1328del	ENSP00000498364.1:n.*1326_*1328del
ENST00000652096.1:c.*1359_*1361del	ENSP00000498896.1:n.*1359_*1361del
ENST00000366578.5:c.1954_1956del	ENSP00000355537.4:p.Trp652del
ENST00000461367.1:n.163_165del
ENST00000542672.5:c.1954_1956del	ENSP00000443495.1:p.Trp652del
ENST00000546208.5:c.1330_1332del	ENSP00000438384.2:p.Trp444del
NM_001103.3:c.1954_1956del	NP_001094.1:p.Trp652del
NM_001278343.1:c.1954_1956del	NP_001265272.1:p.Trp652del
NM_001278344.1:c.1330_1332del	NP_001265273.1:p.Trp444del
NM_001278343.2:c.1954_1956del	NP_001265272.1:p.Trp652del
NM_001103.4:c.1954_1956del MANE Select	NP_001094.1:p.Trp652del
NM_001278344.2:c.1330_1332del	NP_001265273.1:p.Trp444del