Canonical Allele Identifier: CA2487053275

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762685C= , CM000663.2:g.236762685C=	GRCh38
NC_000001.10:g.236925985C= , CM000663.1:g.236925985C=	GRCh37
NC_000001.9:g.234992608C=	NCBI36
NG_009081.1:g.81216C=
NG_009081.2:g.103545C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*66C=	ENSP00000443495.1:n.*66C=
ENST00000461367.2:n.1047C=
ENST00000492634.7:n.2681C=
ENST00000682015.1:c.*66C=	ENSP00000506961.1:n.*66C=
ENST00000682490.1:n.669C=
ENST00000682692.1:n.3846C=
ENST00000682966.1:n.8392C=
ENST00000683111.1:c.*2037C=	ENSP00000507913.1:n.*2037C=
ENST00000683322.1:n.4103C=
ENST00000683805.1:n.1542C=
ENST00000684050.1:n.5389C=
ENST00000684122.1:n.2185C=
ENST00000684286.1:n.4306C=
ENST00000684502.1:n.4048C=
ENST00000684763.1:n.1366C=
ENST00000366578.6:c.*66C= MANE Select	ENSP00000355537.4:n.*66C=
ENST00000492634.6:n.2681C=
ENST00000542672.6:c.*66C=	ENSP00000443495.1:n.*66C=
ENST00000651275.1:c.2643C=	ENSP00000498926.1:n.2643C=
ENST00000651781.1:c.1831C=
ENST00000651786.1:c.*2123C=	ENSP00000498364.1:n.*2123C=
ENST00000652096.1:c.*2156C=	ENSP00000498896.1:n.*2156C=
ENST00000366578.5:c.*66C=	ENSP00000355537.4:n.*66C=
ENST00000542672.5:c.*66C=	ENSP00000443495.1:n.*66C=
ENST00000546208.5:c.*66C=	ENSP00000438384.2:n.*66C=
NM_001103.3:c.*66C=	NP_001094.1:n.*66C=
NM_001278343.1:c.*66C=	NP_001265272.1:n.*66C=
NM_001278344.1:c.*66C=	NP_001265273.1:n.*66C=
NM_001278343.2:c.*66C=	NP_001265272.1:n.*66C=
NM_001103.4:c.*66C= MANE Select	NP_001094.1:n.*66C=
NM_001278344.2:c.*66C=	NP_001265273.1:n.*66C=