Canonical Allele Identifier: CA1148567016

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762578G= , CM000663.2:g.236762578G=	GRCh38
NC_000001.10:g.236925878G= , CM000663.1:g.236925878G=	GRCh37
NC_000001.9:g.234992501G=	NCBI36
NG_009081.1:g.81109G=
NG_009081.2:g.103438G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2644G=	ENSP00000443495.1:p.Ala882=
ENST00000461367.2:n.940G=
ENST00000492634.7:n.2574G=
ENST00000682015.1:c.2551G=	ENSP00000506961.1:p.Ala851=
ENST00000682490.1:n.562G=
ENST00000682692.1:n.3739G=
ENST00000682966.1:n.8285G=
ENST00000683111.1:c.*1930G=	ENSP00000507913.1:n.*1930G=
ENST00000683322.1:n.3996G=
ENST00000683805.1:n.1435G=
ENST00000684050.1:n.5282G=
ENST00000684122.1:n.2078G=
ENST00000684286.1:n.4199G=
ENST00000684502.1:n.3941G=
ENST00000684763.1:n.1259G=
ENST00000366578.6:c.2644G= MANE Select	ENSP00000355537.4:p.Ala882=
ENST00000492634.6:n.2574G=
ENST00000542672.6:c.2644G=	ENSP00000443495.1:p.Ala882=
ENST00000651091.1:c.2334G=	ENSP00000498677.1:n.2334G=
ENST00000651275.1:c.2536G=	ENSP00000498926.1:p.Ala846=
ENST00000651781.1:c.1724G=
ENST00000651786.1:c.*2016G=	ENSP00000498364.1:n.*2016G=
ENST00000652096.1:c.*2049G=	ENSP00000498896.1:n.*2049G=
ENST00000366578.5:c.2644G=	ENSP00000355537.4:p.Ala882=
ENST00000542672.5:c.2644G=	ENSP00000443495.1:p.Ala882=
ENST00000546208.5:c.2020G=	ENSP00000438384.2:p.Ala674=
NM_001103.3:c.2644G=	NP_001094.1:p.Ala882=
NM_001278343.1:c.2644G=	NP_001265272.1:p.Ala882=
NM_001278344.1:c.2020G=	NP_001265273.1:p.Ala674=
NM_001278343.2:c.2644G=	NP_001265272.1:p.Ala882=
NM_001103.4:c.2644G= MANE Select	NP_001094.1:p.Ala882=
NM_001278344.2:c.2020G=	NP_001265273.1:p.Ala674=