Canonical Allele Identifier: CA1148225045

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236747720G= , CM000663.2:g.236747720G=	GRCh38
NC_000001.10:g.236911020G= , CM000663.1:g.236911020G=	GRCh37
NC_000001.9:g.234977643G=	NCBI36
NG_009081.1:g.66251G=
NG_009081.2:g.88580G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1460G=	ENSP00000443495.1:p.Cys487=
ENST00000492634.7:n.1390G=
ENST00000682015.1:c.1367G=	ENSP00000506961.1:p.Cys456=
ENST00000682692.1:n.1207G=
ENST00000682966.1:n.7101G=
ENST00000683111.1:c.*746G=	ENSP00000507913.1:n.*746G=
ENST00000683322.1:n.2812G=
ENST00000684050.1:n.4098G=
ENST00000684286.1:n.3015G=
ENST00000684502.1:n.1409G=
ENST00000366578.6:c.1460G= MANE Select	ENSP00000355537.4:p.Cys487=
ENST00000492634.6:n.1390G=
ENST00000542672.6:c.1460G=	ENSP00000443495.1:p.Cys487=
ENST00000651091.1:c.1150G=	ENSP00000498677.1:n.1150G=
ENST00000651275.1:c.1352G=	ENSP00000498926.1:p.Cys451=
ENST00000651781.1:c.540G=
ENST00000651786.1:c.*832G=	ENSP00000498364.1:n.*832G=
ENST00000652096.1:c.*865G=	ENSP00000498896.1:n.*865G=
ENST00000366578.5:c.1460G=	ENSP00000355537.4:p.Cys487=
ENST00000492101.1:n.21G=
ENST00000542672.5:c.1460G=	ENSP00000443495.1:p.Cys487=
ENST00000546208.5:c.836G=	ENSP00000438384.2:p.Cys279=
NM_001103.3:c.1460G=	NP_001094.1:p.Cys487=
NM_001278343.1:c.1460G=	NP_001265272.1:p.Cys487=
NM_001278344.1:c.836G=	NP_001265273.1:p.Cys279=
NM_001278343.2:c.1460G=	NP_001265272.1:p.Cys487=
NM_001103.4:c.1460G= MANE Select	NP_001094.1:p.Cys487=
NM_001278344.2:c.836G=	NP_001265273.1:p.Cys279=