Canonical Allele Identifier: CA2487049922

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754052A= , CM000663.2:g.236754052A=	GRCh38
NC_000001.10:g.236917352A= , CM000663.1:g.236917352A=	GRCh37
NC_000001.9:g.234983975A=	NCBI36
NG_009081.1:g.72583A=
NG_009081.2:g.94912A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1945A=	ENSP00000443495.1:p.Ile649=
ENST00000461367.2:n.241A=
ENST00000492634.7:n.1875A=
ENST00000682015.1:c.1852A=	ENSP00000506961.1:p.Ile618=
ENST00000682692.1:n.3040A=
ENST00000682966.1:n.7586A=
ENST00000683111.1:c.*1231A=	ENSP00000507913.1:n.*1231A=
ENST00000683322.1:n.3297A=
ENST00000684050.1:n.4583A=
ENST00000684286.1:n.3500A=
ENST00000684502.1:n.3242A=
ENST00000684763.1:n.560A=
ENST00000366578.6:c.1945A= MANE Select	ENSP00000355537.4:p.Ile649=
ENST00000492634.6:n.1875A=
ENST00000542672.6:c.1945A=	ENSP00000443495.1:p.Ile649=
ENST00000651091.1:c.1635A=	ENSP00000498677.1:n.1635A=
ENST00000651275.1:c.1837A=	ENSP00000498926.1:p.Ile613=
ENST00000651781.1:c.1025A=
ENST00000651786.1:c.*1317A=	ENSP00000498364.1:n.*1317A=
ENST00000652096.1:c.*1350A=	ENSP00000498896.1:n.*1350A=
ENST00000366578.5:c.1945A=	ENSP00000355537.4:p.Ile649=
ENST00000461367.1:n.154A=
ENST00000542672.5:c.1945A=	ENSP00000443495.1:p.Ile649=
ENST00000546208.5:c.1321A=	ENSP00000438384.2:p.Ile441=
NM_001103.3:c.1945A=	NP_001094.1:p.Ile649=
NM_001278343.1:c.1945A=	NP_001265272.1:p.Ile649=
NM_001278344.1:c.1321A=	NP_001265273.1:p.Ile441=
NM_001278343.2:c.1945A=	NP_001265272.1:p.Ile649=
NM_001103.4:c.1945A= MANE Select	NP_001094.1:p.Ile649=
NM_001278344.2:c.1321A=	NP_001265273.1:p.Ile441=