Canonical Allele Identifier: CA423810425

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 2938797
• ClinVar RCV Id: RCV003799571
• MyVariant Identifiers: chr1:g.236920806G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236757506G>A , CM000663.2:g.236757506G>A	GRCh38
NC_000001.10:g.236920806G>A , CM000663.1:g.236920806G>A	GRCh37
NC_000001.9:g.234987429G>A	NCBI36
NG_009081.1:g.76037G>A
NG_009081.2:g.98366G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2175G>A	ENSP00000443495.1:p.Glu725=
ENST00000461367.2:n.471G>A
ENST00000492634.7:n.2105G>A
ENST00000682015.1:c.2082G>A	ENSP00000506961.1:p.Glu694=
ENST00000682490.1:n.93G>A
ENST00000682692.1:n.3270G>A
ENST00000682966.1:n.7816G>A
ENST00000683111.1:c.*1461G>A	ENSP00000507913.1:n.*1461G>A
ENST00000683322.1:n.3527G>A
ENST00000683805.1:n.966G>A
ENST00000684050.1:n.4813G>A
ENST00000684122.1:n.322G>A
ENST00000684286.1:n.3730G>A
ENST00000684502.1:n.3472G>A
ENST00000684763.1:n.790G>A
ENST00000366578.6:c.2175G>A MANE Select	ENSP00000355537.4:p.Glu725=
ENST00000492634.6:n.2105G>A
ENST00000542672.6:c.2175G>A	ENSP00000443495.1:p.Glu725=
ENST00000651091.1:c.1865G>A	ENSP00000498677.1:n.1865G>A
ENST00000651275.1:c.2067G>A	ENSP00000498926.1:p.Glu689=
ENST00000651781.1:c.1255G>A
ENST00000651786.1:c.*1547G>A	ENSP00000498364.1:n.*1547G>A
ENST00000652096.1:c.*1580G>A	ENSP00000498896.1:n.*1580G>A
ENST00000366578.5:c.2175G>A	ENSP00000355537.4:p.Glu725=
ENST00000461367.1:n.384G>A
ENST00000542672.5:c.2175G>A	ENSP00000443495.1:p.Glu725=
ENST00000546208.5:c.1551G>A	ENSP00000438384.2:p.Glu517=
NM_001103.3:c.2175G>A	NP_001094.1:p.Glu725=
NM_001278343.1:c.2175G>A	NP_001265272.1:p.Glu725=
NM_001278344.1:c.1551G>A	NP_001265273.1:p.Glu517=
NM_001278343.2:c.2175G>A	NP_001265272.1:p.Glu725=
NM_001103.4:c.2175G>A MANE Select	NP_001094.1:p.Glu725=
NM_001278344.2:c.1551G>A	NP_001265273.1:p.Glu517=