Canonical Allele Identifier: CA1141902846

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755159C= , CM000663.2:g.236755159C=	GRCh38
NC_000001.10:g.236918459C= , CM000663.1:g.236918459C=	GRCh37
NC_000001.9:g.234985082C=	NCBI36
NG_009081.1:g.73690C=
NG_009081.2:g.96019C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2115C=	ENSP00000443495.1:p.Ala705=
ENST00000461367.2:n.411C=
ENST00000492634.7:n.2045C=
ENST00000682015.1:c.2022C=	ENSP00000506961.1:p.Ala674=
ENST00000682692.1:n.3210C=
ENST00000682966.1:n.7756C=
ENST00000683111.1:c.*1401C=	ENSP00000507913.1:n.*1401C=
ENST00000683322.1:n.3467C=
ENST00000683805.1:n.906C=
ENST00000684050.1:n.4753C=
ENST00000684122.1:n.262C=
ENST00000684286.1:n.3670C=
ENST00000684502.1:n.3412C=
ENST00000684763.1:n.730C=
ENST00000366578.6:c.2115C= MANE Select	ENSP00000355537.4:p.Ala705=
ENST00000492634.6:n.2045C=
ENST00000542672.6:c.2115C=	ENSP00000443495.1:p.Ala705=
ENST00000651091.1:c.1805C=	ENSP00000498677.1:n.1805C=
ENST00000651275.1:c.2007C=	ENSP00000498926.1:p.Ala669=
ENST00000651781.1:c.1195C=
ENST00000651786.1:c.*1487C=	ENSP00000498364.1:n.*1487C=
ENST00000652096.1:c.*1520C=	ENSP00000498896.1:n.*1520C=
ENST00000366578.5:c.2115C=	ENSP00000355537.4:p.Ala705=
ENST00000461367.1:n.324C=
ENST00000542672.5:c.2115C=	ENSP00000443495.1:p.Ala705=
ENST00000546208.5:c.1491C=	ENSP00000438384.2:p.Ala497=
NM_001103.3:c.2115C=	NP_001094.1:p.Ala705=
NM_001278343.1:c.2115C=	NP_001265272.1:p.Ala705=
NM_001278344.1:c.1491C=	NP_001265273.1:p.Ala497=
NM_001278343.2:c.2115C=	NP_001265272.1:p.Ala705=
NM_001103.4:c.2115C= MANE Select	NP_001094.1:p.Ala705=
NM_001278344.2:c.1491C=	NP_001265273.1:p.Ala497=