Canonical Allele Identifier: CA2487050352

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755131A= , CM000663.2:g.236755131A=	GRCh38
NC_000001.10:g.236918431A= , CM000663.1:g.236918431A=	GRCh37
NC_000001.9:g.234985054A=	NCBI36
NG_009081.1:g.73662A=
NG_009081.2:g.95991A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2087A=	ENSP00000443495.1:p.Glu696=
ENST00000461367.2:n.383A=
ENST00000492634.7:n.2017A=
ENST00000682015.1:c.1994A=	ENSP00000506961.1:p.Glu665=
ENST00000682692.1:n.3182A=
ENST00000682966.1:n.7728A=
ENST00000683111.1:c.*1373A=	ENSP00000507913.1:n.*1373A=
ENST00000683322.1:n.3439A=
ENST00000683805.1:n.878A=
ENST00000684050.1:n.4725A=
ENST00000684122.1:n.234A=
ENST00000684286.1:n.3642A=
ENST00000684502.1:n.3384A=
ENST00000684763.1:n.702A=
ENST00000366578.6:c.2087A= MANE Select	ENSP00000355537.4:p.Glu696=
ENST00000492634.6:n.2017A=
ENST00000542672.6:c.2087A=	ENSP00000443495.1:p.Glu696=
ENST00000651091.1:c.1777A=	ENSP00000498677.1:n.1777A=
ENST00000651275.1:c.1979A=	ENSP00000498926.1:p.Glu660=
ENST00000651781.1:c.1167A=
ENST00000651786.1:c.*1459A=	ENSP00000498364.1:n.*1459A=
ENST00000652096.1:c.*1492A=	ENSP00000498896.1:n.*1492A=
ENST00000366578.5:c.2087A=	ENSP00000355537.4:p.Glu696=
ENST00000461367.1:n.296A=
ENST00000542672.5:c.2087A=	ENSP00000443495.1:p.Glu696=
ENST00000546208.5:c.1463A=	ENSP00000438384.2:p.Glu488=
NM_001103.3:c.2087A=	NP_001094.1:p.Glu696=
NM_001278343.1:c.2087A=	NP_001265272.1:p.Glu696=
NM_001278344.1:c.1463A=	NP_001265273.1:p.Glu488=
NM_001278343.2:c.2087A=	NP_001265272.1:p.Glu696=
NM_001103.4:c.2087A= MANE Select	NP_001094.1:p.Glu696=
NM_001278344.2:c.1463A=	NP_001265273.1:p.Glu488=