Canonical Allele Identifier: CA2487050349

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755121G= , CM000663.2:g.236755121G=	GRCh38
NC_000001.10:g.236918421G= , CM000663.1:g.236918421G=	GRCh37
NC_000001.9:g.234985044G=	NCBI36
NG_009081.1:g.73652G=
NG_009081.2:g.95981G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2077G=	ENSP00000443495.1:p.Asp693=
ENST00000461367.2:n.373G=
ENST00000492634.7:n.2007G=
ENST00000682015.1:c.1984G=	ENSP00000506961.1:p.Asp662=
ENST00000682692.1:n.3172G=
ENST00000682966.1:n.7718G=
ENST00000683111.1:c.*1363G=	ENSP00000507913.1:n.*1363G=
ENST00000683322.1:n.3429G=
ENST00000683805.1:n.868G=
ENST00000684050.1:n.4715G=
ENST00000684122.1:n.224G=
ENST00000684286.1:n.3632G=
ENST00000684502.1:n.3374G=
ENST00000684763.1:n.692G=
ENST00000366578.6:c.2077G= MANE Select	ENSP00000355537.4:p.Asp693=
ENST00000492634.6:n.2007G=
ENST00000542672.6:c.2077G=	ENSP00000443495.1:p.Asp693=
ENST00000651091.1:c.1767G=	ENSP00000498677.1:n.1767G=
ENST00000651275.1:c.1969G=	ENSP00000498926.1:p.Asp657=
ENST00000651781.1:c.1157G=
ENST00000651786.1:c.*1449G=	ENSP00000498364.1:n.*1449G=
ENST00000652096.1:c.*1482G=	ENSP00000498896.1:n.*1482G=
ENST00000366578.5:c.2077G=	ENSP00000355537.4:p.Asp693=
ENST00000461367.1:n.286G=
ENST00000542672.5:c.2077G=	ENSP00000443495.1:p.Asp693=
ENST00000546208.5:c.1453G=	ENSP00000438384.2:p.Asp485=
NM_001103.3:c.2077G=	NP_001094.1:p.Asp693=
NM_001278343.1:c.2077G=	NP_001265272.1:p.Asp693=
NM_001278344.1:c.1453G=	NP_001265273.1:p.Asp485=
NM_001278343.2:c.2077G=	NP_001265272.1:p.Asp693=
NM_001103.4:c.2077G= MANE Select	NP_001094.1:p.Asp693=
NM_001278344.2:c.1453G=	NP_001265273.1:p.Asp485=