Canonical Allele Identifier: CA2487050335

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755094A= , CM000663.2:g.236755094A=	GRCh38
NC_000001.10:g.236918394A= , CM000663.1:g.236918394A=	GRCh37
NC_000001.9:g.234985017A=	NCBI36
NG_009081.1:g.73625A=
NG_009081.2:g.95954A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2050A=	ENSP00000443495.1:p.Asn684=
ENST00000461367.2:n.346A=
ENST00000492634.7:n.1980A=
ENST00000682015.1:c.1957A=	ENSP00000506961.1:p.Asn653=
ENST00000682692.1:n.3145A=
ENST00000682966.1:n.7691A=
ENST00000683111.1:c.*1336A=	ENSP00000507913.1:n.*1336A=
ENST00000683322.1:n.3402A=
ENST00000683805.1:n.841A=
ENST00000684050.1:n.4688A=
ENST00000684122.1:n.197A=
ENST00000684286.1:n.3605A=
ENST00000684502.1:n.3347A=
ENST00000684763.1:n.665A=
ENST00000366578.6:c.2050A= MANE Select	ENSP00000355537.4:p.Asn684=
ENST00000492634.6:n.1980A=
ENST00000542672.6:c.2050A=	ENSP00000443495.1:p.Asn684=
ENST00000651091.1:c.1740A=	ENSP00000498677.1:n.1740A=
ENST00000651275.1:c.1942A=	ENSP00000498926.1:p.Asn648=
ENST00000651781.1:c.1130A=
ENST00000651786.1:c.*1422A=	ENSP00000498364.1:n.*1422A=
ENST00000652096.1:c.*1455A=	ENSP00000498896.1:n.*1455A=
ENST00000366578.5:c.2050A=	ENSP00000355537.4:p.Asn684=
ENST00000461367.1:n.259A=
ENST00000542672.5:c.2050A=	ENSP00000443495.1:p.Asn684=
ENST00000546208.5:c.1426A=	ENSP00000438384.2:p.Asn476=
NM_001103.3:c.2050A=	NP_001094.1:p.Asn684=
NM_001278343.1:c.2050A=	NP_001265272.1:p.Asn684=
NM_001278344.1:c.1426A=	NP_001265273.1:p.Asn476=
NM_001278343.2:c.2050A=	NP_001265272.1:p.Asn684=
NM_001103.4:c.2050A= MANE Select	NP_001094.1:p.Asn684=
NM_001278344.2:c.1426A=	NP_001265273.1:p.Asn476=