Canonical Allele Identifier: CA2748255784

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762521del , CM000663.2:g.236762521del	GRCh38
NC_000001.10:g.236925821del , CM000663.1:g.236925821del	GRCh37
NC_000001.9:g.234992444del	NCBI36
NG_009081.1:g.81052del
NG_009081.2:g.103381del

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2587del	ENSP00000443495.1:p.Ile863SerfsTer?
ENST00000461367.2:n.883del
ENST00000492634.7:n.2517del
ENST00000682015.1:c.2494del	ENSP00000506961.1:p.Ile832SerfsTer?
ENST00000682490.1:n.505del
ENST00000682692.1:n.3682del
ENST00000682966.1:n.8228del
ENST00000683111.1:c.*1873del	ENSP00000507913.1:n.*1873del
ENST00000683322.1:n.3939del
ENST00000683805.1:n.1378del
ENST00000684050.1:n.5225del
ENST00000684122.1:n.2021del
ENST00000684286.1:n.4142del
ENST00000684502.1:n.3884del
ENST00000684763.1:n.1202del
ENST00000366578.6:c.2587del MANE Select	ENSP00000355537.4:p.Ile863SerfsTer?
ENST00000492634.6:n.2517del
ENST00000542672.6:c.2587del	ENSP00000443495.1:p.Ile863SerfsTer?
ENST00000651091.1:c.2277del	ENSP00000498677.1:n.2277del
ENST00000651275.1:c.2479del	ENSP00000498926.1:p.Ile827SerfsTer?
ENST00000651781.1:c.1667del
ENST00000651786.1:c.*1959del	ENSP00000498364.1:n.*1959del
ENST00000652096.1:c.*1992del	ENSP00000498896.1:n.*1992del
ENST00000366578.5:c.2587del	ENSP00000355537.4:p.Ile863SerfsTer?
ENST00000461367.1:n.796del
ENST00000542672.5:c.2587del	ENSP00000443495.1:p.Ile863SerfsTer?
ENST00000546208.5:c.1963del	ENSP00000438384.2:p.Ile655SerfsTer?
NM_001103.3:c.2587del	NP_001094.1:p.Ile863SerfsTer?
NM_001278343.1:c.2587del	NP_001265272.1:p.Ile863SerfsTer?
NM_001278344.1:c.1963del	NP_001265273.1:p.Ile655SerfsTer?
NM_001278343.2:c.2587del	NP_001265272.1:p.Ile863SerfsTer?
NM_001103.4:c.2587del MANE Select	NP_001094.1:p.Ile863SerfsTer?
NM_001278344.2:c.1963del	NP_001265273.1:p.Ile655SerfsTer?