Canonical Allele Identifier: CA1143975055

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754079G= , CM000663.2:g.236754079G=	GRCh38
NC_000001.10:g.236917379G= , CM000663.1:g.236917379G=	GRCh37
NC_000001.9:g.234984002G=	NCBI36
NG_009081.1:g.72610G=
NG_009081.2:g.94939G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1972G=	ENSP00000443495.1:p.Glu658=
ENST00000461367.2:n.268G=
ENST00000492634.7:n.1902G=
ENST00000682015.1:c.1879G=	ENSP00000506961.1:p.Glu627=
ENST00000682692.1:n.3067G=
ENST00000682966.1:n.7613G=
ENST00000683111.1:c.*1258G=	ENSP00000507913.1:n.*1258G=
ENST00000683322.1:n.3324G=
ENST00000684050.1:n.4610G=
ENST00000684286.1:n.3527G=
ENST00000684502.1:n.3269G=
ENST00000684763.1:n.587G=
ENST00000366578.6:c.1972G= MANE Select	ENSP00000355537.4:p.Glu658=
ENST00000492634.6:n.1902G=
ENST00000542672.6:c.1972G=	ENSP00000443495.1:p.Glu658=
ENST00000651091.1:c.1662G=	ENSP00000498677.1:n.1662G=
ENST00000651275.1:c.1864G=	ENSP00000498926.1:p.Glu622=
ENST00000651781.1:c.1052G=
ENST00000651786.1:c.*1344G=	ENSP00000498364.1:n.*1344G=
ENST00000652096.1:c.*1377G=	ENSP00000498896.1:n.*1377G=
ENST00000366578.5:c.1972G=	ENSP00000355537.4:p.Glu658=
ENST00000461367.1:n.181G=
ENST00000542672.5:c.1972G=	ENSP00000443495.1:p.Glu658=
ENST00000546208.5:c.1348G=	ENSP00000438384.2:p.Glu450=
NM_001103.3:c.1972G=	NP_001094.1:p.Glu658=
NM_001278343.1:c.1972G=	NP_001265272.1:p.Glu658=
NM_001278344.1:c.1348G=	NP_001265273.1:p.Glu450=
NM_001278343.2:c.1972G=	NP_001265272.1:p.Glu658=
NM_001103.4:c.1972G= MANE Select	NP_001094.1:p.Glu658=
NM_001278344.2:c.1348G=	NP_001265273.1:p.Glu450=