Canonical Allele Identifier: CA1148718054

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755126G= , CM000663.2:g.236755126G=	GRCh38
NC_000001.10:g.236918426G= , CM000663.1:g.236918426G=	GRCh37
NC_000001.9:g.234985049G=	NCBI36
NG_009081.1:g.73657G=
NG_009081.2:g.95986G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2082G=	ENSP00000443495.1:p.Lys694=
ENST00000461367.2:n.378G=
ENST00000492634.7:n.2012G=
ENST00000682015.1:c.1989G=	ENSP00000506961.1:p.Lys663=
ENST00000682692.1:n.3177G=
ENST00000682966.1:n.7723G=
ENST00000683111.1:c.*1368G=	ENSP00000507913.1:n.*1368G=
ENST00000683322.1:n.3434G=
ENST00000683805.1:n.873G=
ENST00000684050.1:n.4720G=
ENST00000684122.1:n.229G=
ENST00000684286.1:n.3637G=
ENST00000684502.1:n.3379G=
ENST00000684763.1:n.697G=
ENST00000366578.6:c.2082G= MANE Select	ENSP00000355537.4:p.Lys694=
ENST00000492634.6:n.2012G=
ENST00000542672.6:c.2082G=	ENSP00000443495.1:p.Lys694=
ENST00000651091.1:c.1772G=	ENSP00000498677.1:n.1772G=
ENST00000651275.1:c.1974G=	ENSP00000498926.1:p.Lys658=
ENST00000651781.1:c.1162G=
ENST00000651786.1:c.*1454G=	ENSP00000498364.1:n.*1454G=
ENST00000652096.1:c.*1487G=	ENSP00000498896.1:n.*1487G=
ENST00000366578.5:c.2082G=	ENSP00000355537.4:p.Lys694=
ENST00000461367.1:n.291G=
ENST00000542672.5:c.2082G=	ENSP00000443495.1:p.Lys694=
ENST00000546208.5:c.1458G=	ENSP00000438384.2:p.Lys486=
NM_001103.3:c.2082G=	NP_001094.1:p.Lys694=
NM_001278343.1:c.2082G=	NP_001265272.1:p.Lys694=
NM_001278344.1:c.1458G=	NP_001265273.1:p.Lys486=
NM_001278343.2:c.2082G=	NP_001265272.1:p.Lys694=
NM_001103.4:c.2082G= MANE Select	NP_001094.1:p.Lys694=
NM_001278344.2:c.1458G=	NP_001265273.1:p.Lys486=