Canonical Allele Identifier: CA423810081

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236917369G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754069G>A , CM000663.2:g.236754069G>A	GRCh38
NC_000001.10:g.236917369G>A , CM000663.1:g.236917369G>A	GRCh37
NC_000001.9:g.234983992G>A	NCBI36
NG_009081.1:g.72600G>A
NG_009081.2:g.94929G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1962G>A	ENSP00000443495.1:p.Gln654=
ENST00000461367.2:n.258G>A
ENST00000492634.7:n.1892G>A
ENST00000682015.1:c.1869G>A	ENSP00000506961.1:p.Gln623=
ENST00000682692.1:n.3057G>A
ENST00000682966.1:n.7603G>A
ENST00000683111.1:c.*1248G>A	ENSP00000507913.1:n.*1248G>A
ENST00000683322.1:n.3314G>A
ENST00000684050.1:n.4600G>A
ENST00000684286.1:n.3517G>A
ENST00000684502.1:n.3259G>A
ENST00000684763.1:n.577G>A
ENST00000366578.6:c.1962G>A MANE Select	ENSP00000355537.4:p.Gln654=
ENST00000492634.6:n.1892G>A
ENST00000542672.6:c.1962G>A	ENSP00000443495.1:p.Gln654=
ENST00000651091.1:c.1652G>A	ENSP00000498677.1:n.1652G>A
ENST00000651275.1:c.1854G>A	ENSP00000498926.1:p.Gln618=
ENST00000651781.1:c.1042G>A
ENST00000651786.1:c.*1334G>A	ENSP00000498364.1:n.*1334G>A
ENST00000652096.1:c.*1367G>A	ENSP00000498896.1:n.*1367G>A
ENST00000366578.5:c.1962G>A	ENSP00000355537.4:p.Gln654=
ENST00000461367.1:n.171G>A
ENST00000542672.5:c.1962G>A	ENSP00000443495.1:p.Gln654=
ENST00000546208.5:c.1338G>A	ENSP00000438384.2:p.Gln446=
NM_001103.3:c.1962G>A	NP_001094.1:p.Gln654=
NM_001278343.1:c.1962G>A	NP_001265272.1:p.Gln654=
NM_001278344.1:c.1338G>A	NP_001265273.1:p.Gln446=
NM_001278343.2:c.1962G>A	NP_001265272.1:p.Gln654=
NM_001103.4:c.1962G>A MANE Select	NP_001094.1:p.Gln654=
NM_001278344.2:c.1338G>A	NP_001265273.1:p.Gln446=