Canonical Allele Identifier: CA2487050366

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755162T= , CM000663.2:g.236755162T=	GRCh38
NC_000001.10:g.236918462T= , CM000663.1:g.236918462T=	GRCh37
NC_000001.9:g.234985085T=	NCBI36
NG_009081.1:g.73693T=
NG_009081.2:g.96022T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2118T=	ENSP00000443495.1:p.Leu706=
ENST00000461367.2:n.414T=
ENST00000492634.7:n.2048T=
ENST00000682015.1:c.2025T=	ENSP00000506961.1:p.Leu675=
ENST00000682692.1:n.3213T=
ENST00000682966.1:n.7759T=
ENST00000683111.1:c.*1404T=	ENSP00000507913.1:n.*1404T=
ENST00000683322.1:n.3470T=
ENST00000683805.1:n.909T=
ENST00000684050.1:n.4756T=
ENST00000684122.1:n.265T=
ENST00000684286.1:n.3673T=
ENST00000684502.1:n.3415T=
ENST00000684763.1:n.733T=
ENST00000366578.6:c.2118T= MANE Select	ENSP00000355537.4:p.Leu706=
ENST00000492634.6:n.2048T=
ENST00000542672.6:c.2118T=	ENSP00000443495.1:p.Leu706=
ENST00000651091.1:c.1808T=	ENSP00000498677.1:n.1808T=
ENST00000651275.1:c.2010T=	ENSP00000498926.1:p.Leu670=
ENST00000651781.1:c.1198T=
ENST00000651786.1:c.*1490T=	ENSP00000498364.1:n.*1490T=
ENST00000652096.1:c.*1523T=	ENSP00000498896.1:n.*1523T=
ENST00000366578.5:c.2118T=	ENSP00000355537.4:p.Leu706=
ENST00000461367.1:n.327T=
ENST00000542672.5:c.2118T=	ENSP00000443495.1:p.Leu706=
ENST00000546208.5:c.1494T=	ENSP00000438384.2:p.Leu498=
NM_001103.3:c.2118T=	NP_001094.1:p.Leu706=
NM_001278343.1:c.2118T=	NP_001265272.1:p.Leu706=
NM_001278344.1:c.1494T=	NP_001265273.1:p.Leu498=
NM_001278343.2:c.2118T=	NP_001265272.1:p.Leu706=
NM_001103.4:c.2118T= MANE Select	NP_001094.1:p.Leu706=
NM_001278344.2:c.1494T=	NP_001265273.1:p.Leu498=