Canonical Allele Identifier: CA423810086

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 2947226
• ClinVar RCV Id: RCV003801416
• MyVariant Identifiers: chr1:g.236917381G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754081G>A , CM000663.2:g.236754081G>A	GRCh38
NC_000001.10:g.236917381G>A , CM000663.1:g.236917381G>A	GRCh37
NC_000001.9:g.234984004G>A	NCBI36
NG_009081.1:g.72612G>A
NG_009081.2:g.94941G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1974G>A	ENSP00000443495.1:p.Glu658=
ENST00000461367.2:n.270G>A
ENST00000492634.7:n.1904G>A
ENST00000682015.1:c.1881G>A	ENSP00000506961.1:p.Glu627=
ENST00000682692.1:n.3069G>A
ENST00000682966.1:n.7615G>A
ENST00000683111.1:c.*1260G>A	ENSP00000507913.1:n.*1260G>A
ENST00000683322.1:n.3326G>A
ENST00000684050.1:n.4612G>A
ENST00000684286.1:n.3529G>A
ENST00000684502.1:n.3271G>A
ENST00000684763.1:n.589G>A
ENST00000366578.6:c.1974G>A MANE Select	ENSP00000355537.4:p.Glu658=
ENST00000492634.6:n.1904G>A
ENST00000542672.6:c.1974G>A	ENSP00000443495.1:p.Glu658=
ENST00000651091.1:c.1664G>A	ENSP00000498677.1:n.1664G>A
ENST00000651275.1:c.1866G>A	ENSP00000498926.1:p.Glu622=
ENST00000651781.1:c.1054G>A
ENST00000651786.1:c.*1346G>A	ENSP00000498364.1:n.*1346G>A
ENST00000652096.1:c.*1379G>A	ENSP00000498896.1:n.*1379G>A
ENST00000366578.5:c.1974G>A	ENSP00000355537.4:p.Glu658=
ENST00000461367.1:n.183G>A
ENST00000542672.5:c.1974G>A	ENSP00000443495.1:p.Glu658=
ENST00000546208.5:c.1350G>A	ENSP00000438384.2:p.Glu450=
NM_001103.3:c.1974G>A	NP_001094.1:p.Glu658=
NM_001278343.1:c.1974G>A	NP_001265272.1:p.Glu658=
NM_001278344.1:c.1350G>A	NP_001265273.1:p.Glu450=
NM_001278343.2:c.1974G>A	NP_001265272.1:p.Glu658=
NM_001103.4:c.1974G>A MANE Select	NP_001094.1:p.Glu658=
NM_001278344.2:c.1350G>A	NP_001265273.1:p.Glu450=