Canonical Allele Identifier: CA1142115089

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762583G= , CM000663.2:g.236762583G=	GRCh38
NC_000001.10:g.236925883G= , CM000663.1:g.236925883G=	GRCh37
NC_000001.9:g.234992506G=	NCBI36
NG_009081.1:g.81114G=
NG_009081.2:g.103443G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2649G=	ENSP00000443495.1:p.Ala883=
ENST00000461367.2:n.945G=
ENST00000492634.7:n.2579G=
ENST00000682015.1:c.2556G=	ENSP00000506961.1:p.Ala852=
ENST00000682490.1:n.567G=
ENST00000682692.1:n.3744G=
ENST00000682966.1:n.8290G=
ENST00000683111.1:c.*1935G=	ENSP00000507913.1:n.*1935G=
ENST00000683322.1:n.4001G=
ENST00000683805.1:n.1440G=
ENST00000684050.1:n.5287G=
ENST00000684122.1:n.2083G=
ENST00000684286.1:n.4204G=
ENST00000684502.1:n.3946G=
ENST00000684763.1:n.1264G=
ENST00000366578.6:c.2649G= MANE Select	ENSP00000355537.4:p.Ala883=
ENST00000492634.6:n.2579G=
ENST00000542672.6:c.2649G=	ENSP00000443495.1:p.Ala883=
ENST00000651091.1:c.2339G=	ENSP00000498677.1:n.2339G=
ENST00000651275.1:c.2541G=	ENSP00000498926.1:p.Ala847=
ENST00000651781.1:c.1729G=
ENST00000651786.1:c.*2021G=	ENSP00000498364.1:n.*2021G=
ENST00000652096.1:c.*2054G=	ENSP00000498896.1:n.*2054G=
ENST00000366578.5:c.2649G=	ENSP00000355537.4:p.Ala883=
ENST00000542672.5:c.2649G=	ENSP00000443495.1:p.Ala883=
ENST00000546208.5:c.2025G=	ENSP00000438384.2:p.Ala675=
NM_001103.3:c.2649G=	NP_001094.1:p.Ala883=
NM_001278343.1:c.2649G=	NP_001265272.1:p.Ala883=
NM_001278344.1:c.2025G=	NP_001265273.1:p.Ala675=
NM_001278343.2:c.2649G=	NP_001265272.1:p.Ala883=
NM_001103.4:c.2649G= MANE Select	NP_001094.1:p.Ala883=
NM_001278344.2:c.2025G=	NP_001265273.1:p.Ala675=