Canonical Allele Identifier: CA1141961571

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762573A= , CM000663.2:g.236762573A=	GRCh38
NC_000001.10:g.236925873A= , CM000663.1:g.236925873A=	GRCh37
NC_000001.9:g.234992496A=	NCBI36
NG_009081.1:g.81104A=
NG_009081.2:g.103433A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2639A=	ENSP00000443495.1:p.Asp880=
ENST00000461367.2:n.935A=
ENST00000492634.7:n.2569A=
ENST00000682015.1:c.2546A=	ENSP00000506961.1:p.Asp849=
ENST00000682490.1:n.557A=
ENST00000682692.1:n.3734A=
ENST00000682966.1:n.8280A=
ENST00000683111.1:c.*1925A=	ENSP00000507913.1:n.*1925A=
ENST00000683322.1:n.3991A=
ENST00000683805.1:n.1430A=
ENST00000684050.1:n.5277A=
ENST00000684122.1:n.2073A=
ENST00000684286.1:n.4194A=
ENST00000684502.1:n.3936A=
ENST00000684763.1:n.1254A=
ENST00000366578.6:c.2639A= MANE Select	ENSP00000355537.4:p.Asp880=
ENST00000492634.6:n.2569A=
ENST00000542672.6:c.2639A=	ENSP00000443495.1:p.Asp880=
ENST00000651091.1:c.2329A=	ENSP00000498677.1:n.2329A=
ENST00000651275.1:c.2531A=	ENSP00000498926.1:p.Asp844=
ENST00000651781.1:c.1719A=
ENST00000651786.1:c.*2011A=	ENSP00000498364.1:n.*2011A=
ENST00000652096.1:c.*2044A=	ENSP00000498896.1:n.*2044A=
ENST00000366578.5:c.2639A=	ENSP00000355537.4:p.Asp880=
ENST00000542672.5:c.2639A=	ENSP00000443495.1:p.Asp880=
ENST00000546208.5:c.2015A=	ENSP00000438384.2:p.Asp672=
NM_001103.3:c.2639A=	NP_001094.1:p.Asp880=
NM_001278343.1:c.2639A=	NP_001265272.1:p.Asp880=
NM_001278344.1:c.2015A=	NP_001265273.1:p.Asp672=
NM_001278343.2:c.2639A=	NP_001265272.1:p.Asp880=
NM_001103.4:c.2639A= MANE Select	NP_001094.1:p.Asp880=
NM_001278344.2:c.2015A=	NP_001265273.1:p.Asp672=