Canonical Allele Identifier: CA2487049927

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754062G= , CM000663.2:g.236754062G=	GRCh38
NC_000001.10:g.236917362G= , CM000663.1:g.236917362G=	GRCh37
NC_000001.9:g.234983985G=	NCBI36
NG_009081.1:g.72593G=
NG_009081.2:g.94922G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1955G=	ENSP00000443495.1:p.Trp652=
ENST00000461367.2:n.251G=
ENST00000492634.7:n.1885G=
ENST00000682015.1:c.1862G=	ENSP00000506961.1:p.Trp621=
ENST00000682692.1:n.3050G=
ENST00000682966.1:n.7596G=
ENST00000683111.1:c.*1241G=	ENSP00000507913.1:n.*1241G=
ENST00000683322.1:n.3307G=
ENST00000684050.1:n.4593G=
ENST00000684286.1:n.3510G=
ENST00000684502.1:n.3252G=
ENST00000684763.1:n.570G=
ENST00000366578.6:c.1955G= MANE Select	ENSP00000355537.4:p.Trp652=
ENST00000492634.6:n.1885G=
ENST00000542672.6:c.1955G=	ENSP00000443495.1:p.Trp652=
ENST00000651091.1:c.1645G=	ENSP00000498677.1:n.1645G=
ENST00000651275.1:c.1847G=	ENSP00000498926.1:p.Trp616=
ENST00000651781.1:c.1035G=
ENST00000651786.1:c.*1327G=	ENSP00000498364.1:n.*1327G=
ENST00000652096.1:c.*1360G=	ENSP00000498896.1:n.*1360G=
ENST00000366578.5:c.1955G=	ENSP00000355537.4:p.Trp652=
ENST00000461367.1:n.164G=
ENST00000542672.5:c.1955G=	ENSP00000443495.1:p.Trp652=
ENST00000546208.5:c.1331G=	ENSP00000438384.2:p.Trp444=
NM_001103.3:c.1955G=	NP_001094.1:p.Trp652=
NM_001278343.1:c.1955G=	NP_001265272.1:p.Trp652=
NM_001278344.1:c.1331G=	NP_001265273.1:p.Trp444=
NM_001278343.2:c.1955G=	NP_001265272.1:p.Trp652=
NM_001103.4:c.1955G= MANE Select	NP_001094.1:p.Trp652=
NM_001278344.2:c.1331G=	NP_001265273.1:p.Trp444=