Canonical Allele Identifier: CA2487053244

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762614C= , CM000663.2:g.236762614C=	GRCh38
NC_000001.10:g.236925914C= , CM000663.1:g.236925914C=	GRCh37
NC_000001.9:g.234992537C=	NCBI36
NG_009081.1:g.81145C=
NG_009081.2:g.103474C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2680C=	ENSP00000443495.1:p.Leu894=
ENST00000461367.2:n.976C=
ENST00000492634.7:n.2610C=
ENST00000682015.1:c.2587C=	ENSP00000506961.1:p.Leu863=
ENST00000682490.1:n.598C=
ENST00000682692.1:n.3775C=
ENST00000682966.1:n.8321C=
ENST00000683111.1:c.*1966C=	ENSP00000507913.1:n.*1966C=
ENST00000683322.1:n.4032C=
ENST00000683805.1:n.1471C=
ENST00000684050.1:n.5318C=
ENST00000684122.1:n.2114C=
ENST00000684286.1:n.4235C=
ENST00000684502.1:n.3977C=
ENST00000684763.1:n.1295C=
ENST00000366578.6:c.2680C= MANE Select	ENSP00000355537.4:p.Leu894=
ENST00000492634.6:n.2610C=
ENST00000542672.6:c.2680C=	ENSP00000443495.1:p.Leu894=
ENST00000651275.1:c.2572C=	ENSP00000498926.1:p.Leu858=
ENST00000651781.1:c.1760C=
ENST00000651786.1:c.*2052C=	ENSP00000498364.1:n.*2052C=
ENST00000652096.1:c.*2085C=	ENSP00000498896.1:n.*2085C=
ENST00000366578.5:c.2680C=	ENSP00000355537.4:p.Leu894=
ENST00000542672.5:c.2680C=	ENSP00000443495.1:p.Leu894=
ENST00000546208.5:c.2056C=	ENSP00000438384.2:p.Leu686=
NM_001103.3:c.2680C=	NP_001094.1:p.Leu894=
NM_001278343.1:c.2680C=	NP_001265272.1:p.Leu894=
NM_001278344.1:c.2056C=	NP_001265273.1:p.Leu686=
NM_001278343.2:c.2680C=	NP_001265272.1:p.Leu894=
NM_001103.4:c.2680C= MANE Select	NP_001094.1:p.Leu894=
NM_001278344.2:c.2056C=	NP_001265273.1:p.Leu686=