Canonical Allele Identifier: CA1141880196

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762611G= , CM000663.2:g.236762611G=	GRCh38
NC_000001.10:g.236925911G= , CM000663.1:g.236925911G=	GRCh37
NC_000001.9:g.234992534G=	NCBI36
NG_009081.1:g.81142G=
NG_009081.2:g.103471G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2677G=	ENSP00000443495.1:p.Asp893=
ENST00000461367.2:n.973G=
ENST00000492634.7:n.2607G=
ENST00000682015.1:c.2584G=	ENSP00000506961.1:p.Asp862=
ENST00000682490.1:n.595G=
ENST00000682692.1:n.3772G=
ENST00000682966.1:n.8318G=
ENST00000683111.1:c.*1963G=	ENSP00000507913.1:n.*1963G=
ENST00000683322.1:n.4029G=
ENST00000683805.1:n.1468G=
ENST00000684050.1:n.5315G=
ENST00000684122.1:n.2111G=
ENST00000684286.1:n.4232G=
ENST00000684502.1:n.3974G=
ENST00000684763.1:n.1292G=
ENST00000366578.6:c.2677G= MANE Select	ENSP00000355537.4:p.Asp893=
ENST00000492634.6:n.2607G=
ENST00000542672.6:c.2677G=	ENSP00000443495.1:p.Asp893=
ENST00000651275.1:c.2569G=	ENSP00000498926.1:p.Asp857=
ENST00000651781.1:c.1757G=
ENST00000651786.1:c.*2049G=	ENSP00000498364.1:n.*2049G=
ENST00000652096.1:c.*2082G=	ENSP00000498896.1:n.*2082G=
ENST00000366578.5:c.2677G=	ENSP00000355537.4:p.Asp893=
ENST00000542672.5:c.2677G=	ENSP00000443495.1:p.Asp893=
ENST00000546208.5:c.2053G=	ENSP00000438384.2:p.Asp685=
NM_001103.3:c.2677G=	NP_001094.1:p.Asp893=
NM_001278343.1:c.2677G=	NP_001265272.1:p.Asp893=
NM_001278344.1:c.2053G=	NP_001265273.1:p.Asp685=
NM_001278343.2:c.2677G=	NP_001265272.1:p.Asp893=
NM_001103.4:c.2677G= MANE Select	NP_001094.1:p.Asp893=
NM_001278344.2:c.2053G=	NP_001265273.1:p.Asp685=