Canonical Allele Identifier: CA2487053241

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762605G= , CM000663.2:g.236762605G=	GRCh38
NC_000001.10:g.236925905G= , CM000663.1:g.236925905G=	GRCh37
NC_000001.9:g.234992528G=	NCBI36
NG_009081.1:g.81136G=
NG_009081.2:g.103465G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2671G=	ENSP00000443495.1:p.Glu891=
ENST00000461367.2:n.967G=
ENST00000492634.7:n.2601G=
ENST00000682015.1:c.2578G=	ENSP00000506961.1:p.Glu860=
ENST00000682490.1:n.589G=
ENST00000682692.1:n.3766G=
ENST00000682966.1:n.8312G=
ENST00000683111.1:c.*1957G=	ENSP00000507913.1:n.*1957G=
ENST00000683322.1:n.4023G=
ENST00000683805.1:n.1462G=
ENST00000684050.1:n.5309G=
ENST00000684122.1:n.2105G=
ENST00000684286.1:n.4226G=
ENST00000684502.1:n.3968G=
ENST00000684763.1:n.1286G=
ENST00000366578.6:c.2671G= MANE Select	ENSP00000355537.4:p.Glu891=
ENST00000492634.6:n.2601G=
ENST00000542672.6:c.2671G=	ENSP00000443495.1:p.Glu891=
ENST00000651275.1:c.2563G=	ENSP00000498926.1:p.Glu855=
ENST00000651781.1:c.1751G=
ENST00000651786.1:c.*2043G=	ENSP00000498364.1:n.*2043G=
ENST00000652096.1:c.*2076G=	ENSP00000498896.1:n.*2076G=
ENST00000366578.5:c.2671G=	ENSP00000355537.4:p.Glu891=
ENST00000542672.5:c.2671G=	ENSP00000443495.1:p.Glu891=
ENST00000546208.5:c.2047G=	ENSP00000438384.2:p.Glu683=
NM_001103.3:c.2671G=	NP_001094.1:p.Glu891=
NM_001278343.1:c.2671G=	NP_001265272.1:p.Glu891=
NM_001278344.1:c.2047G=	NP_001265273.1:p.Glu683=
NM_001278343.2:c.2671G=	NP_001265272.1:p.Glu891=
NM_001103.4:c.2671G= MANE Select	NP_001094.1:p.Glu891=
NM_001278344.2:c.2047G=	NP_001265273.1:p.Glu683=