Canonical Allele Identifier: CA1142274161

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762593G= , CM000663.2:g.236762593G=	GRCh38
NC_000001.10:g.236925893G= , CM000663.1:g.236925893G=	GRCh37
NC_000001.9:g.234992516G=	NCBI36
NG_009081.1:g.81124G=
NG_009081.2:g.103453G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2659G=	ENSP00000443495.1:p.Ala887=
ENST00000461367.2:n.955G=
ENST00000492634.7:n.2589G=
ENST00000682015.1:c.2566G=	ENSP00000506961.1:p.Ala856=
ENST00000682490.1:n.577G=
ENST00000682692.1:n.3754G=
ENST00000682966.1:n.8300G=
ENST00000683111.1:c.*1945G=	ENSP00000507913.1:n.*1945G=
ENST00000683322.1:n.4011G=
ENST00000683805.1:n.1450G=
ENST00000684050.1:n.5297G=
ENST00000684122.1:n.2093G=
ENST00000684286.1:n.4214G=
ENST00000684502.1:n.3956G=
ENST00000684763.1:n.1274G=
ENST00000366578.6:c.2659G= MANE Select	ENSP00000355537.4:p.Ala887=
ENST00000492634.6:n.2589G=
ENST00000542672.6:c.2659G=	ENSP00000443495.1:p.Ala887=
ENST00000651091.1:c.2349G=	ENSP00000498677.1:n.2349G=
ENST00000651275.1:c.2551G=	ENSP00000498926.1:p.Ala851=
ENST00000651781.1:c.1739G=
ENST00000651786.1:c.*2031G=	ENSP00000498364.1:n.*2031G=
ENST00000652096.1:c.*2064G=	ENSP00000498896.1:n.*2064G=
ENST00000366578.5:c.2659G=	ENSP00000355537.4:p.Ala887=
ENST00000542672.5:c.2659G=	ENSP00000443495.1:p.Ala887=
ENST00000546208.5:c.2035G=	ENSP00000438384.2:p.Ala679=
NM_001103.3:c.2659G=	NP_001094.1:p.Ala887=
NM_001278343.1:c.2659G=	NP_001265272.1:p.Ala887=
NM_001278344.1:c.2035G=	NP_001265273.1:p.Ala679=
NM_001278343.2:c.2659G=	NP_001265272.1:p.Ala887=
NM_001103.4:c.2659G= MANE Select	NP_001094.1:p.Ala887=
NM_001278344.2:c.2035G=	NP_001265273.1:p.Ala679=