Canonical Allele Identifier: CA2487050353

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755132G= , CM000663.2:g.236755132G=	GRCh38
NC_000001.10:g.236918432G= , CM000663.1:g.236918432G=	GRCh37
NC_000001.9:g.234985055G=	NCBI36
NG_009081.1:g.73663G=
NG_009081.2:g.95992G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2088G=	ENSP00000443495.1:p.Glu696=
ENST00000461367.2:n.384G=
ENST00000492634.7:n.2018G=
ENST00000682015.1:c.1995G=	ENSP00000506961.1:p.Glu665=
ENST00000682692.1:n.3183G=
ENST00000682966.1:n.7729G=
ENST00000683111.1:c.*1374G=	ENSP00000507913.1:n.*1374G=
ENST00000683322.1:n.3440G=
ENST00000683805.1:n.879G=
ENST00000684050.1:n.4726G=
ENST00000684122.1:n.235G=
ENST00000684286.1:n.3643G=
ENST00000684502.1:n.3385G=
ENST00000684763.1:n.703G=
ENST00000366578.6:c.2088G= MANE Select	ENSP00000355537.4:p.Glu696=
ENST00000492634.6:n.2018G=
ENST00000542672.6:c.2088G=	ENSP00000443495.1:p.Glu696=
ENST00000651091.1:c.1778G=	ENSP00000498677.1:n.1778G=
ENST00000651275.1:c.1980G=	ENSP00000498926.1:p.Glu660=
ENST00000651781.1:c.1168G=
ENST00000651786.1:c.*1460G=	ENSP00000498364.1:n.*1460G=
ENST00000652096.1:c.*1493G=	ENSP00000498896.1:n.*1493G=
ENST00000366578.5:c.2088G=	ENSP00000355537.4:p.Glu696=
ENST00000461367.1:n.297G=
ENST00000542672.5:c.2088G=	ENSP00000443495.1:p.Glu696=
ENST00000546208.5:c.1464G=	ENSP00000438384.2:p.Glu488=
NM_001103.3:c.2088G=	NP_001094.1:p.Glu696=
NM_001278343.1:c.2088G=	NP_001265272.1:p.Glu696=
NM_001278344.1:c.1464G=	NP_001265273.1:p.Glu488=
NM_001278343.2:c.2088G=	NP_001265272.1:p.Glu696=
NM_001103.4:c.2088G= MANE Select	NP_001094.1:p.Glu696=
NM_001278344.2:c.1464G=	NP_001265273.1:p.Glu488=